Incidental Mutation 'R7946:Ccdc7a'
ID |
649361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
045991-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R7946 (G1)
|
Quality Score |
220.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129643627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 734
(K734M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214889
AA Change: K734M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,126,398 (GRCm39) |
T1186A |
probably benign |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Afap1 |
A |
G |
5: 36,092,995 (GRCm39) |
N33S |
probably benign |
Het |
Afap1 |
G |
A |
5: 36,141,396 (GRCm39) |
|
probably null |
Het |
Ampd3 |
A |
G |
7: 110,377,147 (GRCm39) |
D46G |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,781,707 (GRCm39) |
K246R |
probably benign |
Het |
Aqp9 |
C |
T |
9: 71,030,290 (GRCm39) |
V192M |
probably damaging |
Het |
Aspscr1 |
T |
G |
11: 120,599,443 (GRCm39) |
S132A |
|
Het |
Atp2b4 |
C |
A |
1: 133,658,320 (GRCm39) |
R530L |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,163,325 (GRCm39) |
V541A |
probably benign |
Het |
Caprin1 |
A |
T |
2: 103,603,093 (GRCm39) |
V490E |
probably damaging |
Het |
Ccdc9b |
G |
T |
2: 118,590,146 (GRCm39) |
P233T |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,812,882 (GRCm39) |
K138R |
probably benign |
Het |
Cela2a |
A |
G |
4: 141,549,617 (GRCm39) |
S53P |
possibly damaging |
Het |
Clca3a2 |
A |
G |
3: 144,513,075 (GRCm39) |
|
probably null |
Het |
Cntrob |
T |
C |
11: 69,206,047 (GRCm39) |
E373G |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,414,058 (GRCm39) |
Y2633H |
|
Het |
Ctbp1 |
A |
T |
5: 33,407,688 (GRCm39) |
M296K |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,303,501 (GRCm39) |
Q1468K |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,272,739 (GRCm39) |
F2289S |
probably damaging |
Het |
Fndc7 |
T |
A |
3: 108,779,452 (GRCm39) |
D364V |
possibly damaging |
Het |
Ggt7 |
G |
T |
2: 155,347,892 (GRCm39) |
H180Q |
probably damaging |
Het |
Gm14399 |
A |
T |
2: 174,973,273 (GRCm39) |
C161S |
probably damaging |
Het |
Gm17324 |
T |
C |
9: 78,355,794 (GRCm39) |
T62A |
unknown |
Het |
Gpr107 |
A |
G |
2: 31,078,716 (GRCm39) |
I384V |
probably damaging |
Het |
Igsf10 |
C |
A |
3: 59,227,125 (GRCm39) |
V2183L |
possibly damaging |
Het |
Il23r |
T |
A |
6: 67,411,648 (GRCm39) |
H363L |
possibly damaging |
Het |
Inka2 |
T |
A |
3: 105,623,761 (GRCm39) |
L45H |
probably damaging |
Het |
Iqsec1 |
A |
T |
6: 90,667,252 (GRCm39) |
I291N |
probably damaging |
Het |
Kcnc3 |
A |
T |
7: 44,245,569 (GRCm39) |
T620S |
probably benign |
Het |
Kif2b |
T |
C |
11: 91,466,571 (GRCm39) |
N571D |
probably benign |
Het |
Klrb1c |
T |
A |
6: 128,766,072 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
A |
G |
3: 51,584,991 (GRCm39) |
N55S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,746 (GRCm39) |
D4509G |
probably damaging |
Het |
Obox1 |
G |
T |
7: 15,289,456 (GRCm39) |
V82F |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,585,163 (GRCm39) |
M190L |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,703,053 (GRCm39) |
D179G |
probably benign |
Het |
Or7e174 |
T |
C |
9: 20,012,780 (GRCm39) |
S242P |
probably damaging |
Het |
Pakap |
A |
T |
4: 57,710,045 (GRCm39) |
N330I |
probably damaging |
Het |
Phf21a |
A |
T |
2: 92,189,512 (GRCm39) |
E590D |
probably damaging |
Het |
Rai14 |
T |
C |
15: 10,574,287 (GRCm39) |
|
probably null |
Het |
Rfx7 |
T |
C |
9: 72,524,096 (GRCm39) |
Y429H |
probably damaging |
Het |
Spata31d1d |
G |
T |
13: 59,878,606 (GRCm39) |
A77E |
probably benign |
Het |
Stra8 |
A |
G |
6: 34,907,816 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 5,200,919 (GRCm39) |
S3550P |
possibly damaging |
Het |
Tars2 |
A |
T |
3: 95,657,693 (GRCm39) |
H249Q |
probably damaging |
Het |
Tomm5 |
T |
C |
4: 45,107,969 (GRCm39) |
E22G |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,853,704 (GRCm39) |
|
probably null |
Het |
Trim43b |
A |
G |
9: 88,973,538 (GRCm39) |
I65T |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,781,739 (GRCm39) |
M640T |
possibly damaging |
Het |
Vegfa |
A |
T |
17: 46,336,377 (GRCm39) |
Y248N |
probably damaging |
Het |
Vmn1r172 |
T |
G |
7: 23,358,857 (GRCm39) |
|
probably null |
Het |
Vmn1r29 |
G |
T |
6: 58,284,834 (GRCm39) |
V185F |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Wdfy4 |
T |
C |
14: 32,792,705 (GRCm39) |
K2114E |
|
Het |
|
Other mutations in Ccdc7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Ccdc7a
|
APN |
8 |
129,753,235 (GRCm39) |
splice site |
probably benign |
|
IGL01019:Ccdc7a
|
APN |
8 |
129,788,099 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01553:Ccdc7a
|
APN |
8 |
129,753,072 (GRCm39) |
splice site |
probably benign |
|
IGL01577:Ccdc7a
|
APN |
8 |
129,715,244 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03114:Ccdc7a
|
APN |
8 |
129,753,170 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03323:Ccdc7a
|
APN |
8 |
129,785,244 (GRCm39) |
missense |
probably benign |
0.02 |
R1517:Ccdc7a
|
UTSW |
8 |
129,788,162 (GRCm39) |
missense |
probably damaging |
0.99 |
R1804:Ccdc7a
|
UTSW |
8 |
129,715,247 (GRCm39) |
nonsense |
probably null |
|
R1957:Ccdc7a
|
UTSW |
8 |
129,706,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R4926:Ccdc7a
|
UTSW |
8 |
129,706,535 (GRCm39) |
intron |
probably benign |
|
R4981:Ccdc7a
|
UTSW |
8 |
129,711,464 (GRCm39) |
missense |
probably benign |
0.35 |
R5193:Ccdc7a
|
UTSW |
8 |
129,715,278 (GRCm39) |
missense |
probably benign |
0.02 |
R5273:Ccdc7a
|
UTSW |
8 |
129,788,090 (GRCm39) |
frame shift |
probably null |
|
R5486:Ccdc7a
|
UTSW |
8 |
129,711,884 (GRCm39) |
missense |
probably damaging |
0.98 |
R5505:Ccdc7a
|
UTSW |
8 |
129,706,655 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5562:Ccdc7a
|
UTSW |
8 |
129,785,266 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5704:Ccdc7a
|
UTSW |
8 |
129,706,577 (GRCm39) |
splice site |
probably benign |
|
R6256:Ccdc7a
|
UTSW |
8 |
129,662,074 (GRCm39) |
splice site |
probably null |
|
R6273:Ccdc7a
|
UTSW |
8 |
129,513,819 (GRCm39) |
missense |
probably damaging |
0.97 |
R6366:Ccdc7a
|
UTSW |
8 |
129,582,473 (GRCm39) |
missense |
unknown |
|
R6455:Ccdc7a
|
UTSW |
8 |
129,559,091 (GRCm39) |
missense |
probably damaging |
0.97 |
R6778:Ccdc7a
|
UTSW |
8 |
129,547,601 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6882:Ccdc7a
|
UTSW |
8 |
129,523,809 (GRCm39) |
intron |
probably benign |
|
R6891:Ccdc7a
|
UTSW |
8 |
129,753,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6906:Ccdc7a
|
UTSW |
8 |
129,662,162 (GRCm39) |
missense |
unknown |
|
R7028:Ccdc7a
|
UTSW |
8 |
129,608,075 (GRCm39) |
missense |
unknown |
|
R7046:Ccdc7a
|
UTSW |
8 |
129,774,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R7073:Ccdc7a
|
UTSW |
8 |
129,618,866 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7268:Ccdc7a
|
UTSW |
8 |
129,607,633 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7454:Ccdc7a
|
UTSW |
8 |
129,670,997 (GRCm39) |
missense |
unknown |
|
R7643:Ccdc7a
|
UTSW |
8 |
129,616,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Ccdc7a
|
UTSW |
8 |
129,719,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Ccdc7a
|
UTSW |
8 |
129,618,918 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7902:Ccdc7a
|
UTSW |
8 |
129,562,654 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7983:Ccdc7a
|
UTSW |
8 |
129,607,559 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8032:Ccdc7a
|
UTSW |
8 |
129,551,864 (GRCm39) |
missense |
unknown |
|
R8108:Ccdc7a
|
UTSW |
8 |
129,706,634 (GRCm39) |
missense |
unknown |
|
R8345:Ccdc7a
|
UTSW |
8 |
129,525,245 (GRCm39) |
missense |
probably benign |
0.01 |
R8372:Ccdc7a
|
UTSW |
8 |
129,547,585 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8379:Ccdc7a
|
UTSW |
8 |
129,691,417 (GRCm39) |
missense |
probably benign |
0.03 |
R8472:Ccdc7a
|
UTSW |
8 |
129,754,138 (GRCm39) |
missense |
probably damaging |
0.99 |
R8478:Ccdc7a
|
UTSW |
8 |
129,487,850 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8536:Ccdc7a
|
UTSW |
8 |
129,516,601 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8671:Ccdc7a
|
UTSW |
8 |
129,646,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R8696:Ccdc7a
|
UTSW |
8 |
129,715,244 (GRCm39) |
missense |
probably damaging |
0.96 |
R8813:Ccdc7a
|
UTSW |
8 |
129,549,942 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8859:Ccdc7a
|
UTSW |
8 |
129,788,113 (GRCm39) |
missense |
probably benign |
0.44 |
R9208:Ccdc7a
|
UTSW |
8 |
129,472,482 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9222:Ccdc7a
|
UTSW |
8 |
129,525,610 (GRCm39) |
missense |
unknown |
|
R9262:Ccdc7a
|
UTSW |
8 |
129,486,277 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9299:Ccdc7a
|
UTSW |
8 |
129,616,319 (GRCm39) |
missense |
probably benign |
0.27 |
R9337:Ccdc7a
|
UTSW |
8 |
129,616,319 (GRCm39) |
missense |
probably benign |
0.27 |
R9357:Ccdc7a
|
UTSW |
8 |
129,671,136 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9516:Ccdc7a
|
UTSW |
8 |
129,555,774 (GRCm39) |
missense |
unknown |
|
R9579:Ccdc7a
|
UTSW |
8 |
129,774,134 (GRCm39) |
nonsense |
probably null |
|
R9672:Ccdc7a
|
UTSW |
8 |
129,671,016 (GRCm39) |
missense |
unknown |
|
R9777:Ccdc7a
|
UTSW |
8 |
129,618,860 (GRCm39) |
missense |
possibly damaging |
0.90 |
RF008:Ccdc7a
|
UTSW |
8 |
129,691,434 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Ccdc7a
|
UTSW |
8 |
129,753,144 (GRCm39) |
missense |
probably benign |
0.41 |
Z1177:Ccdc7a
|
UTSW |
8 |
129,534,405 (GRCm39) |
missense |
possibly damaging |
0.66 |
Z1190:Ccdc7a
|
UTSW |
8 |
129,546,376 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGATGCAAGAGAATTGGTC -3'
(R):5'- CAACTGGAAAACCCAATATTGACTG -3'
Sequencing Primer
(F):5'- GAGAATTGGTCTCCACTTTTCCC -3'
(R):5'- TACTTTTCTGTTTGATGCAC -3'
|
Posted On |
2020-09-15 |