Incidental Mutation 'R0401:Cad'
| ID |
38195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
038606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R0401 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 31231330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000202795]
[ENSMUST00000202973]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013773
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
| 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 |
noncoding transcript
Transcript: ENSMUST00000200917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200953
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
| 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: ENSMUST00000201182
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
| 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 |
noncoding transcript
Transcript: ENSMUST00000201256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202795
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
| 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: ENSMUST00000202827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202973
|
| SMART Domains |
Protein: ENSMUSP00000144679
Gene: ENSMUSG00000013629
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gkra1
|
1 |
84 |
4e-28 |
SMART |
|
PDB:4C6N|A
|
1 |
119 |
4e-58 |
PDB |
|
low complexity region
|
156 |
170 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (90/92) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,776,067 (GRCm39) |
H1752L |
possibly damaging |
Het |
| Abcc5 |
T |
C |
16: 20,195,308 (GRCm39) |
K730E |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,480 (GRCm39) |
D4588G |
probably benign |
Het |
| AI467606 |
G |
A |
7: 126,691,608 (GRCm39) |
R61H |
probably damaging |
Het |
| Apoa4 |
T |
A |
9: 46,154,356 (GRCm39) |
V319E |
probably damaging |
Het |
| Ark2n |
C |
A |
18: 77,761,658 (GRCm39) |
S218I |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,011,525 (GRCm39) |
D1297E |
probably benign |
Het |
| BC005624 |
G |
A |
2: 30,870,021 (GRCm39) |
T62I |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,344 (GRCm39) |
K337E |
probably damaging |
Het |
| Ccdc73 |
T |
C |
2: 104,821,634 (GRCm39) |
S528P |
probably benign |
Het |
| Ccng2 |
T |
G |
5: 93,421,272 (GRCm39) |
C261G |
possibly damaging |
Het |
| Cdh11 |
A |
T |
8: 103,400,638 (GRCm39) |
I110N |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,612,521 (GRCm39) |
V767A |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,123,538 (GRCm39) |
T1460A |
probably benign |
Het |
| Clec4b2 |
C |
T |
6: 123,158,259 (GRCm39) |
Q42* |
probably null |
Het |
| Clip1 |
A |
G |
5: 123,791,852 (GRCm39) |
V106A |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,126,529 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,852,630 (GRCm39) |
E244G |
probably damaging |
Het |
| Dcaf8l |
C |
A |
X: 88,448,815 (GRCm39) |
R438L |
probably benign |
Het |
| Ddx55 |
A |
T |
5: 124,706,014 (GRCm39) |
I480F |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,604,974 (GRCm39) |
S17P |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,926,117 (GRCm39) |
Y1235* |
probably null |
Het |
| Dsg2 |
G |
T |
18: 20,725,565 (GRCm39) |
|
probably benign |
Het |
| E2f5 |
T |
C |
3: 14,644,085 (GRCm39) |
|
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,986 (GRCm39) |
T265A |
probably damaging |
Het |
| Etaa1 |
T |
G |
11: 17,897,514 (GRCm39) |
D201A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,525,304 (GRCm39) |
I260T |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,351,931 (GRCm39) |
A1098V |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,230,105 (GRCm39) |
V286I |
possibly damaging |
Het |
| Gpr141b |
A |
T |
13: 19,913,664 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T9 |
C |
T |
17: 36,439,597 (GRCm39) |
V128M |
probably damaging |
Het |
| Herc2 |
A |
C |
7: 55,807,480 (GRCm39) |
E2523A |
probably damaging |
Het |
| Irag1 |
G |
A |
7: 110,476,104 (GRCm39) |
P757S |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,056,161 (GRCm39) |
R527H |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,087,762 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,309,492 (GRCm39) |
N2802K |
probably damaging |
Het |
| Mab21l2 |
C |
G |
3: 86,454,296 (GRCm39) |
G235R |
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,165 (GRCm39) |
E417G |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,128,145 (GRCm39) |
|
probably benign |
Het |
| Mettl1 |
A |
G |
10: 126,880,946 (GRCm39) |
T203A |
probably benign |
Het |
| Mettl9 |
T |
C |
7: 120,675,536 (GRCm39) |
V312A |
probably damaging |
Het |
| Mex3d |
A |
G |
10: 80,222,728 (GRCm39) |
V176A |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,449,790 (GRCm39) |
S225P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,078,689 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
C |
T |
6: 120,175,012 (GRCm39) |
A51V |
possibly damaging |
Het |
| Nle1 |
A |
G |
11: 82,796,205 (GRCm39) |
|
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,137,062 (GRCm39) |
Y532H |
probably benign |
Het |
| Nr2c1 |
T |
A |
10: 94,007,020 (GRCm39) |
V286E |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
| Or4c31 |
T |
G |
2: 88,292,269 (GRCm39) |
L195R |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,150 (GRCm39) |
H263L |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,079 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,785 (GRCm39) |
Y121H |
probably benign |
Het |
| Or6f1 |
T |
C |
7: 85,970,500 (GRCm39) |
Y220C |
probably benign |
Het |
| Or9k7 |
A |
G |
10: 130,046,489 (GRCm39) |
L170P |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,400,343 (GRCm39) |
V15D |
probably damaging |
Het |
| Pate8 |
G |
T |
9: 36,493,924 (GRCm39) |
A3E |
unknown |
Het |
| Pclo |
T |
G |
5: 14,731,748 (GRCm39) |
S3417A |
unknown |
Het |
| Pex1 |
T |
A |
5: 3,683,759 (GRCm39) |
M1085K |
probably damaging |
Het |
| Plscr2 |
T |
C |
9: 92,164,188 (GRCm39) |
S6P |
probably benign |
Het |
| Pogz |
C |
T |
3: 94,784,336 (GRCm39) |
P722S |
possibly damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,395 (GRCm39) |
D222V |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,049,325 (GRCm39) |
Y179C |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,294,042 (GRCm39) |
I179V |
possibly damaging |
Het |
| Ranbp9 |
A |
C |
13: 43,576,134 (GRCm39) |
V355G |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,373,028 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,720,570 (GRCm39) |
S2693T |
probably benign |
Het |
| Sbno1 |
G |
A |
5: 124,548,348 (GRCm39) |
T111I |
probably damaging |
Het |
| Sdk1 |
A |
C |
5: 142,031,916 (GRCm39) |
N997T |
possibly damaging |
Het |
| Setx |
G |
T |
2: 29,056,301 (GRCm39) |
E39* |
probably null |
Het |
| Skint7 |
T |
A |
4: 111,837,559 (GRCm39) |
N112K |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
A |
T |
2: 62,021,192 (GRCm39) |
D80V |
probably benign |
Het |
| Susd2 |
C |
A |
10: 75,474,437 (GRCm39) |
|
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tcf3 |
G |
T |
10: 80,256,992 (GRCm39) |
S77R |
probably damaging |
Het |
| Tdpoz3 |
T |
C |
3: 93,733,672 (GRCm39) |
Y116H |
probably benign |
Het |
| Tex26 |
C |
A |
5: 149,384,323 (GRCm39) |
D164E |
probably benign |
Het |
| Thoc5 |
G |
A |
11: 4,852,213 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
A |
G |
3: 65,438,857 (GRCm39) |
R58G |
probably benign |
Het |
| Trim66 |
A |
T |
7: 109,074,471 (GRCm39) |
C597S |
probably damaging |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,349 (GRCm39) |
Q225L |
probably benign |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,696 (GRCm39) |
I198L |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,281 (GRCm39) |
V210D |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,284,407 (GRCm39) |
F483L |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,570,519 (GRCm39) |
K346E |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,466,221 (GRCm39) |
S2126R |
possibly damaging |
Het |
| Zfp608 |
C |
T |
18: 55,032,066 (GRCm39) |
G625R |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,149,385 (GRCm39) |
D234G |
probably damaging |
Het |
| Zscan10 |
T |
A |
17: 23,824,889 (GRCm39) |
V115E |
probably damaging |
Het |
|
| Other mutations in Cad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Cad
|
APN |
5 |
31,218,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00908:Cad
|
APN |
5 |
31,216,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01068:Cad
|
APN |
5 |
31,219,114 (GRCm39) |
splice site |
probably benign |
|
|
IGL01638:Cad
|
APN |
5 |
31,224,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Cad
|
APN |
5 |
31,218,170 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02499:Cad
|
APN |
5 |
31,226,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Cad
|
APN |
5 |
31,212,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Cad
|
APN |
5 |
31,212,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4696001:Cad
|
UTSW |
5 |
31,229,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0212:Cad
|
UTSW |
5 |
31,235,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Cad
|
UTSW |
5 |
31,229,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0335:Cad
|
UTSW |
5 |
31,231,329 (GRCm39) |
unclassified |
probably benign |
|
|
R0445:Cad
|
UTSW |
5 |
31,230,053 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0494:Cad
|
UTSW |
5 |
31,234,856 (GRCm39) |
unclassified |
probably benign |
|
|
R0532:Cad
|
UTSW |
5 |
31,219,531 (GRCm39) |
splice site |
probably benign |
|
|
R0539:Cad
|
UTSW |
5 |
31,232,801 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Cad
|
UTSW |
5 |
31,216,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0590:Cad
|
UTSW |
5 |
31,219,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Cad
|
UTSW |
5 |
31,235,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0831:Cad
|
UTSW |
5 |
31,224,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Cad
|
UTSW |
5 |
31,216,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Cad
|
UTSW |
5 |
31,226,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Cad
|
UTSW |
5 |
31,233,563 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1763:Cad
|
UTSW |
5 |
31,218,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Cad
|
UTSW |
5 |
31,219,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Cad
|
UTSW |
5 |
31,219,018 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3113:Cad
|
UTSW |
5 |
31,231,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3762:Cad
|
UTSW |
5 |
31,232,890 (GRCm39) |
splice site |
probably null |
|
|
R3847:Cad
|
UTSW |
5 |
31,218,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Cad
|
UTSW |
5 |
31,231,366 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3943:Cad
|
UTSW |
5 |
31,229,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4213:Cad
|
UTSW |
5 |
31,229,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4458:Cad
|
UTSW |
5 |
31,218,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Cad
|
UTSW |
5 |
31,215,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4629:Cad
|
UTSW |
5 |
31,227,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Cad
|
UTSW |
5 |
31,224,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4811:Cad
|
UTSW |
5 |
31,232,034 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5044:Cad
|
UTSW |
5 |
31,212,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5630:Cad
|
UTSW |
5 |
31,217,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Cad
|
UTSW |
5 |
31,234,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Cad
|
UTSW |
5 |
31,226,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Cad
|
UTSW |
5 |
31,212,327 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6073:Cad
|
UTSW |
5 |
31,219,906 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6240:Cad
|
UTSW |
5 |
31,230,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Cad
|
UTSW |
5 |
31,224,144 (GRCm39) |
missense |
probably null |
|
|
R7145:Cad
|
UTSW |
5 |
31,224,956 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7303:Cad
|
UTSW |
5 |
31,217,557 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7352:Cad
|
UTSW |
5 |
31,215,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Cad
|
UTSW |
5 |
31,233,173 (GRCm39) |
missense |
probably benign |
|
|
R7387:Cad
|
UTSW |
5 |
31,219,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Cad
|
UTSW |
5 |
31,231,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7596:Cad
|
UTSW |
5 |
31,226,392 (GRCm39) |
missense |
probably benign |
|
|
R7627:Cad
|
UTSW |
5 |
31,217,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Cad
|
UTSW |
5 |
31,218,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Cad
|
UTSW |
5 |
31,226,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Cad
|
UTSW |
5 |
31,218,271 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8511:Cad
|
UTSW |
5 |
31,233,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8523:Cad
|
UTSW |
5 |
31,215,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8690:Cad
|
UTSW |
5 |
31,232,500 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8697:Cad
|
UTSW |
5 |
31,231,945 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8698:Cad
|
UTSW |
5 |
31,234,819 (GRCm39) |
missense |
probably benign |
|
|
R8699:Cad
|
UTSW |
5 |
31,233,605 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8803:Cad
|
UTSW |
5 |
31,226,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Cad
|
UTSW |
5 |
31,225,009 (GRCm39) |
missense |
probably null |
|
|
R9272:Cad
|
UTSW |
5 |
31,218,576 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9287:Cad
|
UTSW |
5 |
31,230,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9314:Cad
|
UTSW |
5 |
31,234,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Cad
|
UTSW |
5 |
31,228,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9665:Cad
|
UTSW |
5 |
31,229,703 (GRCm39) |
missense |
probably benign |
0.28 |
|
RF001:Cad
|
UTSW |
5 |
31,217,556 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF012:Cad
|
UTSW |
5 |
31,217,556 (GRCm39) |
critical splice donor site |
probably benign |
|
|
X0021:Cad
|
UTSW |
5 |
31,225,475 (GRCm39) |
missense |
probably null |
1.00 |
|
X0022:Cad
|
UTSW |
5 |
31,229,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cad
|
UTSW |
5 |
31,232,472 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1177:Cad
|
UTSW |
5 |
31,225,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGCCCCAACTCAAGCTGTAGG -3'
(R):5'- CTGTCAAGGGTCAAGGGTCAAGTC -3'
Sequencing Primer
(F):5'- TCCTTAAGCACAGGGATTGAC -3'
(R):5'- CTACATAGGTGTCCTCCTGGAGAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation