Incidental Mutation 'R7493:C2cd3'
| ID |
580925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C2cd3
|
| Ensembl Gene |
ENSMUSG00000047248 |
| Gene Name |
C2 calcium-dependent domain containing 3 |
| Synonyms |
|
| MMRRC Submission |
045567-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100021440-100119359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100076433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 797
(I797V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051777]
[ENSMUST00000098259]
[ENSMUST00000120196]
[ENSMUST00000133464]
|
| AlphaFold |
Q52KB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051777
AA Change: I1175V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248
AA Change: I1175V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
C2
|
524 |
662 |
2.36e1 |
SMART |
|
C2
|
790 |
899 |
3.73e0 |
SMART |
|
C2
|
989 |
1129 |
1.47e1 |
SMART |
|
C2
|
1182 |
1321 |
1.63e1 |
SMART |
|
C2
|
1617 |
1724 |
1.43e-2 |
SMART |
|
low complexity region
|
1892 |
1906 |
N/A |
INTRINSIC |
|
low complexity region
|
2037 |
2049 |
N/A |
INTRINSIC |
|
low complexity region
|
2110 |
2125 |
N/A |
INTRINSIC |
|
low complexity region
|
2180 |
2197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098259
AA Change: I1175V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248
AA Change: I1175V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
C2
|
524 |
662 |
2.36e1 |
SMART |
|
C2
|
790 |
899 |
3.73e0 |
SMART |
|
C2
|
989 |
1129 |
1.47e1 |
SMART |
|
C2
|
1182 |
1321 |
1.63e1 |
SMART |
|
C2
|
1617 |
1724 |
1.43e-2 |
SMART |
|
low complexity region
|
1892 |
1906 |
N/A |
INTRINSIC |
|
low complexity region
|
2037 |
2049 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000113360
Gene: ENSMUSG00000047248
AA Change: I797V
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
61 |
199 |
2.36e1 |
SMART |
|
C2
|
327 |
436 |
3.73e0 |
SMART |
|
C2
|
526 |
666 |
1.47e1 |
SMART |
|
C2
|
719 |
858 |
1.63e1 |
SMART |
|
C2
|
1154 |
1261 |
1.43e-2 |
SMART |
|
low complexity region
|
1429 |
1443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120196
|
| SMART Domains |
Protein: ENSMUSP00000113728
Gene: ENSMUSG00000047248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
308 |
N/A |
INTRINSIC |
|
C2
|
415 |
553 |
1.5e-1 |
SMART |
|
C2
|
681 |
790 |
2.4e-2 |
SMART |
|
C2
|
880 |
1020 |
9.5e-2 |
SMART |
|
C2
|
1073 |
1212 |
1.1e-1 |
SMART |
|
C2
|
1508 |
1615 |
9e-5 |
SMART |
|
low complexity region
|
1783 |
1797 |
N/A |
INTRINSIC |
|
low complexity region
|
1928 |
1940 |
N/A |
INTRINSIC |
|
low complexity region
|
2001 |
2016 |
N/A |
INTRINSIC |
|
low complexity region
|
2071 |
2087 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133464
|
| SMART Domains |
Protein: ENSMUSP00000118864
Gene: ENSMUSG00000047248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,257 (GRCm39) |
L236P |
possibly damaging |
Het |
| Abca7 |
T |
A |
10: 79,837,896 (GRCm39) |
D488E |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,423 (GRCm39) |
K296E |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,163,345 (GRCm39) |
D122G |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,290,774 (GRCm39) |
E225V |
|
Het |
| Bpifb2 |
A |
G |
2: 153,731,397 (GRCm39) |
M258V |
possibly damaging |
Het |
| Brd2 |
G |
A |
17: 34,341,231 (GRCm39) |
|
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,987,005 (GRCm39) |
V1700F |
probably damaging |
Het |
| Ccdc148 |
T |
G |
2: 58,899,160 (GRCm39) |
E71A |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,354,483 (GRCm39) |
L1074* |
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,198,772 (GRCm39) |
D215G |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,151 (GRCm39) |
|
probably null |
Het |
| Copz1 |
A |
G |
15: 103,204,971 (GRCm39) |
E110G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,512 (GRCm39) |
D682V |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,164,768 (GRCm39) |
C1180S |
probably damaging |
Het |
| Cyren |
A |
T |
6: 34,851,593 (GRCm39) |
L114Q |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,194,368 (GRCm39) |
L229Q |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,000 (GRCm39) |
P145L |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,203,813 (GRCm39) |
R135L |
|
Het |
| Fam83a |
G |
A |
15: 57,849,569 (GRCm39) |
A38T |
probably damaging |
Het |
| G6pc2 |
T |
C |
2: 69,053,344 (GRCm39) |
Y133H |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,518 (GRCm39) |
I193V |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,744,899 (GRCm39) |
T208A |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,795 (GRCm39) |
M1019K |
probably damaging |
Het |
| Gm45783 |
T |
C |
7: 7,373,599 (GRCm39) |
D61G |
probably damaging |
Het |
| Golga5 |
T |
C |
12: 102,450,835 (GRCm39) |
|
probably null |
Het |
| Ighe |
A |
G |
12: 113,235,023 (GRCm39) |
V379A |
|
Het |
| Itpr3 |
C |
A |
17: 27,313,774 (GRCm39) |
H573Q |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,202,809 (GRCm39) |
L463P |
probably damaging |
Het |
| Large1 |
T |
G |
8: 73,550,343 (GRCm39) |
M619L |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,308,748 (GRCm39) |
V149E |
probably benign |
Het |
| Lyz2 |
T |
C |
10: 117,118,144 (GRCm39) |
K2E |
probably damaging |
Het |
| Man2c1 |
T |
A |
9: 57,048,412 (GRCm39) |
S858T |
probably damaging |
Het |
| Nt5dc1 |
A |
T |
10: 34,180,932 (GRCm39) |
N439K |
probably benign |
Het |
| Or4a2 |
A |
G |
2: 89,248,145 (GRCm39) |
I204T |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,281 (GRCm39) |
L162F |
probably benign |
Het |
| Or4p7 |
T |
C |
2: 88,222,224 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or51f1 |
A |
T |
7: 102,506,278 (GRCm39) |
Y70* |
probably null |
Het |
| Or5d43 |
T |
C |
2: 88,105,445 (GRCm39) |
|
probably benign |
Het |
| Or7g27 |
A |
C |
9: 19,250,109 (GRCm39) |
M118L |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,722,843 (GRCm39) |
N296S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,383,298 (GRCm39) |
N789D |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,693,314 (GRCm39) |
D851G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,723 (GRCm39) |
H833R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,023 (GRCm39) |
E119G |
not run |
Het |
| Plekha5 |
A |
G |
6: 140,526,161 (GRCm39) |
D933G |
probably benign |
Het |
| Pnma1 |
G |
A |
12: 84,193,903 (GRCm39) |
R267C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,558,619 (GRCm39) |
H481L |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,695,418 (GRCm39) |
|
probably null |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,359,647 (GRCm39) |
L406I |
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,758,276 (GRCm39) |
S18P |
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,154,886 (GRCm39) |
V173M |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,254 (GRCm39) |
S583P |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,630 (GRCm39) |
S1217G |
probably benign |
Het |
| S1pr1 |
A |
T |
3: 115,505,922 (GRCm39) |
I224N |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,681 (GRCm39) |
D808N |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,467 (GRCm39) |
V119A |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,124,798 (GRCm39) |
Y2737* |
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,152,264 (GRCm39) |
Y34C |
unknown |
Het |
| Ssh2 |
A |
T |
11: 77,328,542 (GRCm39) |
E369D |
probably benign |
Het |
| Stx1b |
C |
T |
7: 127,406,531 (GRCm39) |
V273M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,654 (GRCm39) |
H2615R |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,675,758 (GRCm39) |
I225T |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,121,854 (GRCm39) |
I52T |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,416,605 (GRCm38) |
D1122N |
probably benign |
Het |
| Trav13-2 |
T |
A |
14: 53,872,363 (GRCm39) |
S7T |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,636,189 (GRCm39) |
L18Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,567,553 (GRCm39) |
I27780N |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,666,635 (GRCm39) |
S44P |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,632 (GRCm39) |
K123E |
probably damaging |
Het |
| Vmn2r62 |
A |
C |
7: 42,437,316 (GRCm39) |
F389L |
possibly damaging |
Het |
| Vps35l |
C |
T |
7: 118,393,800 (GRCm39) |
|
probably null |
Het |
| Zdhhc11 |
T |
A |
13: 74,121,726 (GRCm39) |
M79K |
possibly damaging |
Het |
| Zfp202 |
G |
T |
9: 40,118,640 (GRCm39) |
V18F |
possibly damaging |
Het |
| Zfp39 |
A |
G |
11: 58,781,869 (GRCm39) |
F298L |
possibly damaging |
Het |
| Znrf1 |
G |
A |
8: 112,264,071 (GRCm39) |
G100D |
probably damaging |
Het |
|
| Other mutations in C2cd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:C2cd3
|
APN |
7 |
100,040,335 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01420:C2cd3
|
APN |
7 |
100,104,065 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01775:C2cd3
|
APN |
7 |
100,092,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01832:C2cd3
|
APN |
7 |
100,076,421 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01883:C2cd3
|
APN |
7 |
100,023,693 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02664:C2cd3
|
APN |
7 |
100,068,922 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02697:C2cd3
|
APN |
7 |
100,076,376 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02852:C2cd3
|
APN |
7 |
100,079,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03158:C2cd3
|
APN |
7 |
100,023,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:C2cd3
|
UTSW |
7 |
100,067,729 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0012:C2cd3
|
UTSW |
7 |
100,067,729 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0013:C2cd3
|
UTSW |
7 |
100,065,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:C2cd3
|
UTSW |
7 |
100,065,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:C2cd3
|
UTSW |
7 |
100,093,652 (GRCm39) |
unclassified |
probably benign |
|
|
R0032:C2cd3
|
UTSW |
7 |
100,093,652 (GRCm39) |
unclassified |
probably benign |
|
|
R0124:C2cd3
|
UTSW |
7 |
100,118,725 (GRCm39) |
missense |
probably benign |
|
|
R0387:C2cd3
|
UTSW |
7 |
100,071,714 (GRCm39) |
splice site |
probably benign |
|
|
R0522:C2cd3
|
UTSW |
7 |
100,044,429 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1124:C2cd3
|
UTSW |
7 |
100,071,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1484:C2cd3
|
UTSW |
7 |
100,089,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:C2cd3
|
UTSW |
7 |
100,055,284 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1631:C2cd3
|
UTSW |
7 |
100,021,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1875:C2cd3
|
UTSW |
7 |
100,056,232 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2059:C2cd3
|
UTSW |
7 |
100,104,700 (GRCm39) |
unclassified |
probably benign |
|
|
R2060:C2cd3
|
UTSW |
7 |
100,104,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2348:C2cd3
|
UTSW |
7 |
100,062,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:C2cd3
|
UTSW |
7 |
100,044,459 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3405:C2cd3
|
UTSW |
7 |
100,039,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3687:C2cd3
|
UTSW |
7 |
100,085,040 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3775:C2cd3
|
UTSW |
7 |
100,081,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:C2cd3
|
UTSW |
7 |
100,103,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4359:C2cd3
|
UTSW |
7 |
100,090,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4403:C2cd3
|
UTSW |
7 |
100,081,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:C2cd3
|
UTSW |
7 |
100,023,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:C2cd3
|
UTSW |
7 |
100,021,657 (GRCm39) |
unclassified |
probably benign |
|
|
R4705:C2cd3
|
UTSW |
7 |
100,044,395 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4770:C2cd3
|
UTSW |
7 |
100,092,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:C2cd3
|
UTSW |
7 |
100,065,539 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4816:C2cd3
|
UTSW |
7 |
100,040,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4842:C2cd3
|
UTSW |
7 |
100,065,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4858:C2cd3
|
UTSW |
7 |
100,104,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:C2cd3
|
UTSW |
7 |
100,062,581 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4898:C2cd3
|
UTSW |
7 |
100,055,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:C2cd3
|
UTSW |
7 |
100,109,049 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5112:C2cd3
|
UTSW |
7 |
100,092,692 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5242:C2cd3
|
UTSW |
7 |
100,039,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5538:C2cd3
|
UTSW |
7 |
100,104,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5861:C2cd3
|
UTSW |
7 |
100,093,682 (GRCm39) |
unclassified |
probably benign |
|
|
R6110:C2cd3
|
UTSW |
7 |
100,090,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:C2cd3
|
UTSW |
7 |
100,065,635 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6429:C2cd3
|
UTSW |
7 |
100,081,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:C2cd3
|
UTSW |
7 |
100,104,505 (GRCm39) |
missense |
probably benign |
|
|
R6613:C2cd3
|
UTSW |
7 |
100,044,448 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6631:C2cd3
|
UTSW |
7 |
100,067,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:C2cd3
|
UTSW |
7 |
100,104,553 (GRCm39) |
missense |
probably benign |
|
|
R6837:C2cd3
|
UTSW |
7 |
100,097,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:C2cd3
|
UTSW |
7 |
100,056,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:C2cd3
|
UTSW |
7 |
100,039,448 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6929:C2cd3
|
UTSW |
7 |
100,100,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:C2cd3
|
UTSW |
7 |
100,081,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:C2cd3
|
UTSW |
7 |
100,065,388 (GRCm39) |
missense |
|
|
|
R7174:C2cd3
|
UTSW |
7 |
100,081,405 (GRCm39) |
missense |
|
|
|
R7241:C2cd3
|
UTSW |
7 |
100,056,257 (GRCm39) |
missense |
|
|
|
R7335:C2cd3
|
UTSW |
7 |
100,071,810 (GRCm39) |
missense |
|
|
|
R7357:C2cd3
|
UTSW |
7 |
100,079,310 (GRCm39) |
missense |
|
|
|
R7567:C2cd3
|
UTSW |
7 |
100,080,022 (GRCm39) |
missense |
|
|
|
R7573:C2cd3
|
UTSW |
7 |
100,068,914 (GRCm39) |
missense |
|
|
|
R7869:C2cd3
|
UTSW |
7 |
100,118,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7999:C2cd3
|
UTSW |
7 |
100,109,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8134:C2cd3
|
UTSW |
7 |
100,067,711 (GRCm39) |
missense |
|
|
|
R8369:C2cd3
|
UTSW |
7 |
100,044,465 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8372:C2cd3
|
UTSW |
7 |
100,104,487 (GRCm39) |
nonsense |
probably null |
|
|
R8753:C2cd3
|
UTSW |
7 |
100,049,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8893:C2cd3
|
UTSW |
7 |
100,104,004 (GRCm39) |
missense |
probably benign |
|
|
R8905:C2cd3
|
UTSW |
7 |
100,074,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8945:C2cd3
|
UTSW |
7 |
100,040,286 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8970:C2cd3
|
UTSW |
7 |
100,068,971 (GRCm39) |
missense |
|
|
|
R9000:C2cd3
|
UTSW |
7 |
100,065,281 (GRCm39) |
missense |
|
|
|
R9064:C2cd3
|
UTSW |
7 |
100,059,608 (GRCm39) |
missense |
|
|
|
R9072:C2cd3
|
UTSW |
7 |
100,040,291 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9126:C2cd3
|
UTSW |
7 |
100,081,430 (GRCm39) |
missense |
|
|
|
R9160:C2cd3
|
UTSW |
7 |
100,075,236 (GRCm39) |
missense |
|
|
|
R9234:C2cd3
|
UTSW |
7 |
100,049,012 (GRCm39) |
missense |
|
|
|
R9258:C2cd3
|
UTSW |
7 |
100,098,026 (GRCm39) |
missense |
|
|
|
R9295:C2cd3
|
UTSW |
7 |
100,081,734 (GRCm39) |
missense |
|
|
|
R9411:C2cd3
|
UTSW |
7 |
100,065,704 (GRCm39) |
missense |
|
|
|
R9420:C2cd3
|
UTSW |
7 |
100,065,262 (GRCm39) |
missense |
|
|
|
R9589:C2cd3
|
UTSW |
7 |
100,081,756 (GRCm39) |
missense |
|
|
|
R9628:C2cd3
|
UTSW |
7 |
100,097,961 (GRCm39) |
missense |
|
|
|
R9629:C2cd3
|
UTSW |
7 |
100,029,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:C2cd3
|
UTSW |
7 |
100,023,662 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9775:C2cd3
|
UTSW |
7 |
100,076,458 (GRCm39) |
missense |
|
|
|
X0002:C2cd3
|
UTSW |
7 |
100,089,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTCCCACAAATTGTCTCTG -3'
(R):5'- TCAGGAAGGTCTCAGTCAGTC -3'
Sequencing Primer
(F):5'- ACAAATTGTCTCTGACTTTCACAC -3'
(R):5'- GGTCTCAGTCAGTCACCCACATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation