Incidental Mutation 'R1786:Cad'
| ID |
202801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
|
| MMRRC Submission |
039817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R1786 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31054780-31078479 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31058072 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 76
(F76I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013766]
[ENSMUST00000013773]
[ENSMUST00000200942]
[ENSMUST00000200953]
[ENSMUST00000201136]
[ENSMUST00000201182]
[ENSMUST00000201773]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013766
|
| SMART Domains |
Protein: ENSMUSP00000013766
Gene: ENSMUSG00000013622
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
149 |
187 |
2.03e1 |
SMART |
|
transmembrane domain
|
192 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013773
AA Change: F76I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: F76I
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
4.7e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
1.2e-15 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
1.8e-85 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
1.5e-9 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.2e-10 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.8e-23 |
PFAM |
|
Pfam:CPSase_L_D2
|
1047 |
1250 |
3.1e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
|
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1462 |
1730 |
7.4e-12 |
PFAM |
|
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1924 |
2065 |
1.9e-44 |
PFAM |
|
Pfam:OTCace
|
2071 |
2221 |
7.6e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031049
AA Change: F76I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031049
Gene: ENSMUSG00000013629
AA Change: F76I
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
3.8e-48 |
PFAM |
|
Pfam:CPSase_L_chain
|
392 |
509 |
2.1e-20 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
616 |
1.9e-34 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
626 |
1.7e-6 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
524 |
624 |
2.7e-7 |
PFAM |
|
Pfam:CPSase_L_D2
|
614 |
655 |
5.2e-15 |
PFAM |
|
CPSase_L_D3
|
735 |
858 |
9.7e-59 |
SMART |
|
Pfam:CPSase_L_chain
|
868 |
979 |
2.9e-20 |
PFAM |
|
Pfam:ATP-grasp_4
|
981 |
1160 |
6.4e-24 |
PFAM |
|
Pfam:CPSase_L_D2
|
984 |
1187 |
3.5e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
991 |
1179 |
1.2e-6 |
PFAM |
|
Pfam:ATP-grasp
|
992 |
1159 |
1.6e-11 |
PFAM |
|
MGS
|
1264 |
1365 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_5
|
1374 |
1437 |
9.4e-7 |
PFAM |
|
Pfam:Amidohydro_1
|
1399 |
1597 |
1.9e-12 |
PFAM |
|
Pfam:Amidohydro_4
|
1401 |
1692 |
5.5e-15 |
PFAM |
|
low complexity region
|
1757 |
1776 |
N/A |
INTRINSIC |
|
low complexity region
|
1801 |
1817 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1861 |
2003 |
1.7e-48 |
PFAM |
|
Pfam:OTCace
|
2008 |
2158 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200942
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200953
AA Change: F76I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: F76I
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_D2
|
514 |
616 |
1.5e-34 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
625 |
2.4e-7 |
PFAM |
|
Pfam:CPSase_L_D2
|
614 |
655 |
4.9e-15 |
PFAM |
|
CPSase_L_D3
|
735 |
858 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
981 |
1160 |
1.7e-23 |
PFAM |
|
Pfam:CPSase_L_D2
|
984 |
1187 |
3e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
991 |
1179 |
2.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
992 |
1159 |
2.1e-12 |
PFAM |
|
MGS
|
1264 |
1365 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1399 |
1667 |
7.1e-12 |
PFAM |
|
low complexity region
|
1757 |
1776 |
N/A |
INTRINSIC |
|
low complexity region
|
1801 |
1817 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1861 |
2002 |
1.8e-44 |
PFAM |
|
Pfam:OTCace
|
2008 |
2158 |
7.3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201136
|
| SMART Domains |
Protein: ENSMUSP00000144085
Gene: ENSMUSG00000013622
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
96 |
134 |
2.03e1 |
SMART |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201182
AA Change: F76I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: F76I
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
1.1e-15 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
1.7e-85 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
1.4e-9 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.1e-10 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.7e-23 |
PFAM |
|
Pfam:CPSase_L_D2
|
1047 |
1250 |
3e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
|
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1462 |
1730 |
7.1e-12 |
PFAM |
|
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1949 |
1994 |
1.4e-11 |
PFAM |
|
Pfam:OTCace
|
2000 |
2150 |
7.3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201773
|
| SMART Domains |
Protein: ENSMUSP00000144333
Gene: ENSMUSG00000013622
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201838
AA Change: F76I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: F76I
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
6.3e-48 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
1.9e-16 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
3.7e-86 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
2.5e-10 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
526 |
687 |
4.2e-11 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
SCOP:d1a9xa3
|
935 |
964 |
1e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202795
AA Change: F76I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: F76I
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
1.9e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
5.9e-16 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
1.2e-85 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
7.3e-10 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
687 |
1.3e-10 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
1044 |
1223 |
8.9e-24 |
PFAM |
|
Pfam:CPSase_L_D2
|
1047 |
1250 |
2.1e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
1.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
1055 |
1222 |
1.1e-12 |
PFAM |
|
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1462 |
1730 |
2.5e-11 |
PFAM |
|
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1970 |
2004 |
4.6e-11 |
PFAM |
|
Pfam:OTCace
|
2010 |
2160 |
9.9e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201844
|
| Meta Mutation Damage Score |
0.4227 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
97% (98/101) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010111I01Rik |
T |
A |
13: 63,210,149 (GRCm38) |
C656S |
probably benign |
Het |
| 9030624J02Rik |
T |
C |
7: 118,794,575 (GRCm38) |
Y516H |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,576,260 (GRCm38) |
N178I |
probably damaging |
Het |
| Abcc4 |
G |
A |
14: 118,553,349 (GRCm38) |
R749C |
probably damaging |
Het |
| Acot11 |
T |
C |
4: 106,762,035 (GRCm38) |
E201G |
probably damaging |
Het |
| Akap13 |
G |
T |
7: 75,611,434 (GRCm38) |
A1269S |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,644,128 (GRCm38) |
V451A |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,169,843 (GRCm38) |
H845R |
probably damaging |
Het |
| Asb6 |
G |
A |
2: 30,827,076 (GRCm38) |
R46W |
probably damaging |
Het |
| Bpifb6 |
T |
C |
2: 153,906,861 (GRCm38) |
F259S |
probably damaging |
Het |
| Camk2b |
T |
C |
11: 5,977,880 (GRCm38) |
E390G |
probably benign |
Het |
| Cars |
C |
A |
7: 143,592,474 (GRCm38) |
R71M |
probably damaging |
Het |
| Ccdc170 |
T |
G |
10: 4,519,043 (GRCm38) |
I197S |
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,081,134 (GRCm38) |
K362N |
probably damaging |
Het |
| Cntrl |
CAGAG |
CAG |
2: 35,122,806 (GRCm38) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,792,798 (GRCm38) |
D1045G |
probably benign |
Het |
| Crocc |
T |
C |
4: 141,021,802 (GRCm38) |
D1564G |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,129,077 (GRCm38) |
M802L |
probably damaging |
Het |
| Dctn4 |
T |
C |
18: 60,546,335 (GRCm38) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,313,786 (GRCm38) |
Q1916R |
probably damaging |
Het |
| Dpysl2 |
A |
G |
14: 66,862,665 (GRCm38) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,081,084 (GRCm38) |
Y2871H |
probably damaging |
Het |
| Fam221b |
T |
A |
4: 43,665,537 (GRCm38) |
H307L |
probably damaging |
Het |
| Foxn4 |
C |
T |
5: 114,263,132 (GRCm38) |
D37N |
probably damaging |
Het |
| Gemin4 |
G |
C |
11: 76,211,050 (GRCm38) |
P962A |
probably damaging |
Het |
| Gm9797 |
T |
C |
10: 11,609,325 (GRCm38) |
|
noncoding transcript |
Het |
| Golim4 |
A |
T |
3: 75,908,149 (GRCm38) |
V116D |
probably damaging |
Het |
| Gper1 |
C |
T |
5: 139,426,722 (GRCm38) |
P274L |
probably damaging |
Het |
| Gpr132 |
A |
G |
12: 112,852,403 (GRCm38) |
S268P |
probably damaging |
Het |
| Gtpbp2 |
T |
C |
17: 46,161,202 (GRCm38) |
M21T |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,183,786 (GRCm38) |
A2447V |
possibly damaging |
Het |
| Ift20 |
G |
A |
11: 78,540,034 (GRCm38) |
E68K |
probably damaging |
Het |
| Insrr |
G |
A |
3: 87,810,572 (GRCm38) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 52,893,933 (GRCm38) |
V465A |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,758,805 (GRCm38) |
|
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,819,675 (GRCm38) |
|
probably benign |
Het |
| Lhx6 |
G |
T |
2: 36,087,458 (GRCm38) |
C327* |
probably null |
Het |
| Lifr |
A |
G |
15: 7,181,856 (GRCm38) |
D625G |
possibly damaging |
Het |
| Llgl1 |
T |
C |
11: 60,707,240 (GRCm38) |
V370A |
probably benign |
Het |
| Lman1 |
A |
T |
18: 65,991,582 (GRCm38) |
M362K |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,174,988 (GRCm38) |
T842I |
possibly damaging |
Het |
| Lpin3 |
T |
A |
2: 160,896,809 (GRCm38) |
L227* |
probably null |
Het |
| Ltv1 |
C |
G |
10: 13,182,536 (GRCm38) |
|
probably benign |
Het |
| Magel2 |
A |
T |
7: 62,377,738 (GRCm38) |
H130L |
unknown |
Het |
| Mettl17 |
A |
T |
14: 51,888,735 (GRCm38) |
|
probably benign |
Het |
| Mnx1 |
T |
A |
5: 29,474,189 (GRCm38) |
S299C |
unknown |
Het |
| Mov10 |
A |
T |
3: 104,818,116 (GRCm38) |
I59N |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 31,994,897 (GRCm38) |
I581V |
probably benign |
Het |
| Ncdn |
T |
A |
4: 126,745,273 (GRCm38) |
|
probably null |
Het |
| Ndufa4 |
A |
T |
6: 11,900,575 (GRCm38) |
V37E |
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,524,664 (GRCm38) |
L546R |
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,751,142 (GRCm38) |
L347P |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 128,498,516 (GRCm38) |
E782D |
probably damaging |
Het |
| Ntrk3 |
G |
A |
7: 78,477,935 (GRCm38) |
|
probably benign |
Het |
| Olfr341 |
A |
G |
2: 36,480,047 (GRCm38) |
S28P |
possibly damaging |
Het |
| Olfr372 |
A |
G |
8: 72,058,436 (GRCm38) |
Y252C |
probably damaging |
Het |
| Olfr968 |
A |
T |
9: 39,772,495 (GRCm38) |
C102S |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,586,214 (GRCm38) |
I546K |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,117,308 (GRCm38) |
V212A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,909,684 (GRCm38) |
V294A |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,892,253 (GRCm38) |
V106A |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,279,365 (GRCm38) |
|
probably null |
Het |
| Ptgdr |
A |
T |
14: 44,858,579 (GRCm38) |
Y225* |
probably null |
Het |
| Ptpn22 |
A |
G |
3: 103,874,052 (GRCm38) |
I90V |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,816,772 (GRCm38) |
T372I |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,491,161 (GRCm38) |
|
probably null |
Het |
| Qrich2 |
C |
T |
11: 116,441,449 (GRCm38) |
G2307D |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 111,297,402 (GRCm38) |
V96E |
probably benign |
Het |
| Senp1 |
T |
A |
15: 98,075,967 (GRCm38) |
T132S |
probably benign |
Het |
| Slc9a4 |
T |
G |
1: 40,607,741 (GRCm38) |
|
probably null |
Het |
| Slfn9 |
T |
A |
11: 82,981,307 (GRCm38) |
I868F |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,475,871 (GRCm38) |
D137G |
probably damaging |
Het |
| Synj1 |
G |
T |
16: 90,964,517 (GRCm38) |
A687D |
probably damaging |
Het |
| Syt4 |
A |
G |
18: 31,443,443 (GRCm38) |
|
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,164,493 (GRCm38) |
N271K |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,624,833 (GRCm38) |
T1775A |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,208,645 (GRCm38) |
T595S |
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,278,054 (GRCm38) |
M457L |
possibly damaging |
Het |
| Tmem200a |
T |
A |
10: 25,993,927 (GRCm38) |
H148L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,834,940 (GRCm38) |
|
probably null |
Het |
| Txk |
T |
A |
5: 72,696,579 (GRCm38) |
T472S |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,423,945 (GRCm38) |
M1897K |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,061,376 (GRCm38) |
L391P |
probably damaging |
Het |
| Uncx |
T |
C |
5: 139,547,547 (GRCm38) |
S456P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,879,791 (GRCm38) |
Y3004C |
probably damaging |
Het |
| Wisp1 |
G |
A |
15: 66,906,489 (GRCm38) |
C53Y |
probably damaging |
Het |
| Zbtb46 |
C |
T |
2: 181,391,431 (GRCm38) |
C479Y |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 11,150,605 (GRCm38) |
Y503* |
probably null |
Het |
| Zdhhc13 |
T |
A |
7: 48,824,644 (GRCm38) |
L548Q |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,621,304 (GRCm38) |
M1225V |
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,308,005 (GRCm38) |
F133L |
probably damaging |
Het |
| Zfp503 |
A |
T |
14: 21,985,520 (GRCm38) |
C443S |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,268,434 (GRCm38) |
I1423F |
possibly damaging |
Het |
|
| Other mutations in Cad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Cad
|
APN |
5 |
31,061,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00908:Cad
|
APN |
5 |
31,059,054 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01068:Cad
|
APN |
5 |
31,061,770 (GRCm38) |
splice site |
probably benign |
|
|
IGL01638:Cad
|
APN |
5 |
31,067,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02483:Cad
|
APN |
5 |
31,060,826 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02499:Cad
|
APN |
5 |
31,069,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02691:Cad
|
APN |
5 |
31,055,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03002:Cad
|
APN |
5 |
31,054,986 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4696001:Cad
|
UTSW |
5 |
31,072,094 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0212:Cad
|
UTSW |
5 |
31,078,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0317:Cad
|
UTSW |
5 |
31,072,321 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0335:Cad
|
UTSW |
5 |
31,073,985 (GRCm38) |
unclassified |
probably benign |
|
|
R0401:Cad
|
UTSW |
5 |
31,073,986 (GRCm38) |
unclassified |
probably benign |
|
|
R0445:Cad
|
UTSW |
5 |
31,072,709 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0494:Cad
|
UTSW |
5 |
31,077,512 (GRCm38) |
unclassified |
probably benign |
|
|
R0532:Cad
|
UTSW |
5 |
31,062,187 (GRCm38) |
splice site |
probably benign |
|
|
R0539:Cad
|
UTSW |
5 |
31,075,457 (GRCm38) |
splice site |
probably benign |
|
|
R0578:Cad
|
UTSW |
5 |
31,058,776 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0590:Cad
|
UTSW |
5 |
31,062,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0638:Cad
|
UTSW |
5 |
31,077,688 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0831:Cad
|
UTSW |
5 |
31,067,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1329:Cad
|
UTSW |
5 |
31,059,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1513:Cad
|
UTSW |
5 |
31,068,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1531:Cad
|
UTSW |
5 |
31,076,219 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1763:Cad
|
UTSW |
5 |
31,060,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1785:Cad
|
UTSW |
5 |
31,058,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2131:Cad
|
UTSW |
5 |
31,058,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2165:Cad
|
UTSW |
5 |
31,062,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3103:Cad
|
UTSW |
5 |
31,061,674 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3113:Cad
|
UTSW |
5 |
31,074,137 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R3762:Cad
|
UTSW |
5 |
31,075,546 (GRCm38) |
splice site |
probably null |
|
|
R3847:Cad
|
UTSW |
5 |
31,061,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3898:Cad
|
UTSW |
5 |
31,074,022 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3943:Cad
|
UTSW |
5 |
31,072,385 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4213:Cad
|
UTSW |
5 |
31,072,344 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4458:Cad
|
UTSW |
5 |
31,061,226 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4562:Cad
|
UTSW |
5 |
31,058,133 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4629:Cad
|
UTSW |
5 |
31,070,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4717:Cad
|
UTSW |
5 |
31,066,686 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4811:Cad
|
UTSW |
5 |
31,074,690 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5044:Cad
|
UTSW |
5 |
31,055,021 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5630:Cad
|
UTSW |
5 |
31,060,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5660:Cad
|
UTSW |
5 |
31,076,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6008:Cad
|
UTSW |
5 |
31,069,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6029:Cad
|
UTSW |
5 |
31,054,983 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6073:Cad
|
UTSW |
5 |
31,062,562 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6240:Cad
|
UTSW |
5 |
31,072,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6260:Cad
|
UTSW |
5 |
31,066,800 (GRCm38) |
missense |
probably null |
|
|
R7145:Cad
|
UTSW |
5 |
31,067,612 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7303:Cad
|
UTSW |
5 |
31,060,213 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7352:Cad
|
UTSW |
5 |
31,058,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7382:Cad
|
UTSW |
5 |
31,075,829 (GRCm38) |
missense |
probably benign |
|
|
R7387:Cad
|
UTSW |
5 |
31,061,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7455:Cad
|
UTSW |
5 |
31,074,162 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7596:Cad
|
UTSW |
5 |
31,069,048 (GRCm38) |
missense |
probably benign |
|
|
R7627:Cad
|
UTSW |
5 |
31,060,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7898:Cad
|
UTSW |
5 |
31,061,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Cad
|
UTSW |
5 |
31,068,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8115:Cad
|
UTSW |
5 |
31,060,927 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8511:Cad
|
UTSW |
5 |
31,075,821 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8523:Cad
|
UTSW |
5 |
31,058,106 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8690:Cad
|
UTSW |
5 |
31,075,156 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8697:Cad
|
UTSW |
5 |
31,074,601 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8698:Cad
|
UTSW |
5 |
31,077,475 (GRCm38) |
missense |
probably benign |
|
|
R8699:Cad
|
UTSW |
5 |
31,076,261 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8803:Cad
|
UTSW |
5 |
31,069,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9262:Cad
|
UTSW |
5 |
31,067,665 (GRCm38) |
missense |
probably null |
|
|
R9272:Cad
|
UTSW |
5 |
31,061,232 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9287:Cad
|
UTSW |
5 |
31,072,656 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9314:Cad
|
UTSW |
5 |
31,077,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9609:Cad
|
UTSW |
5 |
31,070,674 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9665:Cad
|
UTSW |
5 |
31,072,359 (GRCm38) |
missense |
probably benign |
0.28 |
|
RF001:Cad
|
UTSW |
5 |
31,060,212 (GRCm38) |
critical splice donor site |
probably benign |
|
|
RF012:Cad
|
UTSW |
5 |
31,060,212 (GRCm38) |
critical splice donor site |
probably benign |
|
|
X0021:Cad
|
UTSW |
5 |
31,068,131 (GRCm38) |
missense |
probably null |
1.00 |
|
X0022:Cad
|
UTSW |
5 |
31,072,317 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Cad
|
UTSW |
5 |
31,075,128 (GRCm38) |
missense |
probably benign |
0.25 |
|
Z1177:Cad
|
UTSW |
5 |
31,068,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTCTCTGGACACGATAGGC -3'
(R):5'- GAAACCTCCCTGATTCTCTCGG -3'
Sequencing Primer
(F):5'- ACACGATAGGCCCATGTTCAGTG -3'
(R):5'- GTCTAGGTACTGTGTACTTTACCCAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation