Incidental Mutation 'R8022:Cad'
| ID |
617438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
|
| MMRRC Submission |
067461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31054780-31078479 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31068806 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1117
(V1117F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013773
AA Change: V1117F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: V1117F
| 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 |
probably damaging
Transcript: ENSMUST00000200953
AA Change: V1054F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: V1054F
| 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 damaging
Transcript: ENSMUST00000201182
AA Change: V1117F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: V1117F
| 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: ENSMUST00000201838
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
| 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 |
probably damaging
Transcript: ENSMUST00000202795
AA Change: V1117F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: V1117F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,223,854 (GRCm38) |
T1386S |
probably benign |
Het |
| AI661453 |
T |
G |
17: 47,466,236 (GRCm38) |
S296A |
unknown |
Het |
| Ambp |
G |
T |
4: 63,144,197 (GRCm38) |
N268K |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,887,593 (GRCm38) |
K2503E |
probably damaging |
Het |
| Ap1g1 |
C |
A |
8: 109,832,735 (GRCm38) |
R221S |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,470,149 (GRCm38) |
|
probably null |
Het |
| Aspa |
A |
C |
11: 73,322,206 (GRCm38) |
N103K |
probably benign |
Het |
| BC049730 |
T |
A |
7: 24,714,174 (GRCm38) |
I205N |
possibly damaging |
Het |
| Bend7 |
G |
A |
2: 4,752,779 (GRCm38) |
V211I |
probably benign |
Het |
| Bsn |
A |
G |
9: 108,114,404 (GRCm38) |
M1383T |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,590,301 (GRCm38) |
L856S |
probably damaging |
Het |
| Cdh7 |
T |
A |
1: 110,061,108 (GRCm38) |
S247T |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,069,315 (GRCm38) |
|
probably null |
Het |
| Chd7 |
T |
A |
4: 8,751,605 (GRCm38) |
V34E |
unknown |
Het |
| Clca3a2 |
A |
T |
3: 144,805,766 (GRCm38) |
F623I |
probably damaging |
Het |
| Cope |
T |
G |
8: 70,312,803 (GRCm38) |
M217R |
probably benign |
Het |
| Crim1 |
T |
A |
17: 78,315,555 (GRCm38) |
I394N |
possibly damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,918,566 (GRCm38) |
I644N |
probably damaging |
Het |
| Cry1 |
G |
A |
10: 85,146,402 (GRCm38) |
A360V |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 173,118,766 (GRCm38) |
V8D |
probably benign |
Het |
| Cyp2d34 |
G |
A |
15: 82,616,114 (GRCm38) |
Q475* |
probably null |
Het |
| Cyp39a1 |
T |
C |
17: 43,746,577 (GRCm38) |
Y436H |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,977,668 (GRCm38) |
Q484L |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,265,014 (GRCm38) |
F3607S |
probably damaging |
Het |
| Dnali1 |
T |
A |
4: 125,065,530 (GRCm38) |
K23N |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,153,330 (GRCm38) |
I313V |
probably benign |
Het |
| Ehhadh |
C |
A |
16: 21,777,820 (GRCm38) |
A53S |
probably benign |
Het |
| Epcam |
T |
C |
17: 87,646,308 (GRCm38) |
S277P |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,062,062 (GRCm38) |
I155V |
possibly damaging |
Het |
| Fgd6 |
A |
T |
10: 94,044,344 (GRCm38) |
K353N |
possibly damaging |
Het |
| Glce |
A |
T |
9: 62,060,591 (GRCm38) |
M426K |
probably benign |
Het |
| Glmp |
A |
T |
3: 88,326,520 (GRCm38) |
N228I |
probably damaging |
Het |
| Gm4787 |
C |
A |
12: 81,377,720 (GRCm38) |
V555F |
possibly damaging |
Het |
| Gm5114 |
T |
A |
7: 39,409,376 (GRCm38) |
H273L |
probably benign |
Het |
| Gzmg |
T |
A |
14: 56,157,446 (GRCm38) |
T122S |
probably benign |
Het |
| Hace1 |
T |
C |
10: 45,700,970 (GRCm38) |
V820A |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,718,795 (GRCm38) |
D535V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,458,873 (GRCm38) |
M20V |
probably benign |
Het |
| Kcnn3 |
T |
G |
3: 89,609,703 (GRCm38) |
I473S |
possibly damaging |
Het |
| Klhl35 |
T |
A |
7: 99,473,239 (GRCm38) |
F94Y |
unknown |
Het |
| Kmt2c |
C |
T |
5: 25,281,680 (GRCm38) |
V4712I |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,782,557 (GRCm38) |
E740G |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,248,299 (GRCm38) |
D187G |
probably benign |
Het |
| Lsm3 |
C |
T |
6: 91,519,561 (GRCm38) |
H49Y |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,697,365 (GRCm38) |
S962G |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,095,613 (GRCm38) |
R782Q |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 112,303,767 (GRCm38) |
K148N |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,260,272 (GRCm38) |
Q1256* |
probably null |
Het |
| Ncam1 |
G |
T |
9: 49,564,892 (GRCm38) |
A299D |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,681,794 (GRCm38) |
D512G |
probably damaging |
Het |
| Nkiras2 |
A |
G |
11: 100,624,287 (GRCm38) |
N28D |
probably benign |
Het |
| Nprl2 |
A |
C |
9: 107,543,061 (GRCm38) |
K53T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,510 (GRCm38) |
I88N |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,756,966 (GRCm38) |
I986T |
possibly damaging |
Het |
| Olfr809 |
A |
T |
10: 129,776,785 (GRCm38) |
L305F |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,099,293 (GRCm38) |
Y187F |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 47,728,776 (GRCm38) |
T32A |
probably benign |
Het |
| Ranbp2 |
A |
C |
10: 58,485,861 (GRCm38) |
D2660A |
possibly damaging |
Het |
| Retreg1 |
A |
G |
15: 25,843,479 (GRCm38) |
R46G |
|
Het |
| Rrbp1 |
C |
A |
2: 143,956,792 (GRCm38) |
K1100N |
probably benign |
Het |
| Rsph10b |
A |
T |
5: 143,967,232 (GRCm38) |
T676S |
probably benign |
Het |
| Setdb1 |
T |
A |
3: 95,347,085 (GRCm38) |
D195V |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,338,599 (GRCm38) |
F672I |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,625,086 (GRCm38) |
E450G |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 108,012,276 (GRCm38) |
V513M |
probably benign |
Het |
| Slc25a12 |
A |
T |
2: 71,275,189 (GRCm38) |
V667E |
unknown |
Het |
| Slc39a3 |
T |
C |
10: 81,031,277 (GRCm38) |
T212A |
probably benign |
Het |
| Slc45a1 |
C |
T |
4: 150,638,309 (GRCm38) |
G373S |
possibly damaging |
Het |
| Snx11 |
G |
A |
11: 96,772,854 (GRCm38) |
T53M |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,925,340 (GRCm38) |
F482L |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,178,765 (GRCm38) |
R468C |
probably damaging |
Het |
| Stk32a |
C |
T |
18: 43,315,101 (GRCm38) |
Q382* |
probably null |
Het |
| Sun3 |
C |
A |
11: 9,023,376 (GRCm38) |
S167I |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 178,355,062 (GRCm38) |
L1116P |
probably damaging |
Het |
| Thbs4 |
T |
G |
13: 92,752,447 (GRCm38) |
T913P |
probably damaging |
Het |
| Trav8d-1 |
C |
T |
14: 52,778,827 (GRCm38) |
Q57* |
probably null |
Het |
| Trio |
C |
G |
15: 27,749,866 (GRCm38) |
V2250L |
probably benign |
Het |
| Unc119b |
A |
T |
5: 115,127,043 (GRCm38) |
I204N |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,378,471 (GRCm38) |
E576G |
probably damaging |
Het |
| Uvssa |
T |
A |
5: 33,409,504 (GRCm38) |
L515Q |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,732,338 (GRCm38) |
Y43C |
probably damaging |
Het |
| Xpo6 |
G |
A |
7: 126,169,254 (GRCm38) |
L94F |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 56,006,020 (GRCm38) |
K804R |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 74,084,068 (GRCm38) |
R479G |
probably benign |
Het |
| Zfp661 |
T |
C |
2: 127,577,924 (GRCm38) |
T99A |
probably benign |
Het |
| Zfp839 |
A |
T |
12: 110,855,098 (GRCm38) |
Q115H |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,189,568 (GRCm38) |
|
probably null |
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 |
|
R1786: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 |
|
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'- GAGAGCTCAGTGACCTTGAG -3'
(R):5'- GACAGGGTCATTTTCTCCTTGC -3'
Sequencing Primer
(F):5'- CTGGGGTCTGGCAGGAAG -3'
(R):5'- TGCCCTTTGGTGAAACAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation