Incidental Mutation 'R9208:Ccdc7a'
| ID |
698643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7a
|
| Ensembl Gene |
ENSMUSG00000025808 |
| Gene Name |
coiled-coil domain containing 7A |
| Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
| MMRRC Submission |
068982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R9208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129472482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1617
(I1617F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000195093]
[ENSMUST00000214889]
[ENSMUST00000216104]
|
| AlphaFold |
Q9D541 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195093
AA Change: I179F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214889
AA Change: I1617F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216104
AA Change: I252F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217343
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
T |
A |
12: 84,153,358 (GRCm39) |
L200Q |
possibly damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,727 (GRCm39) |
S569P |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,487,447 (GRCm39) |
I121V |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,423,227 (GRCm39) |
D267G |
probably benign |
Het |
| Cic |
T |
C |
7: 24,987,502 (GRCm39) |
F1397L |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,756,465 (GRCm39) |
M203K |
probably benign |
Het |
| Clock |
A |
G |
5: 76,384,871 (GRCm39) |
S449P |
probably benign |
Het |
| Cse1l |
C |
A |
2: 166,783,185 (GRCm39) |
N743K |
probably damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,583 (GRCm39) |
I77T |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,932 (GRCm39) |
I443V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,176,684 (GRCm39) |
V1246A |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 149,002,698 (GRCm39) |
E37G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,875,444 (GRCm39) |
D173E |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,217,503 (GRCm39) |
W949R |
possibly damaging |
Het |
| Fam13c |
A |
G |
10: 70,388,869 (GRCm39) |
E465G |
probably damaging |
Het |
| Fam83d |
T |
A |
2: 158,610,466 (GRCm39) |
C145S |
probably damaging |
Het |
| Fbln7 |
T |
A |
2: 128,737,343 (GRCm39) |
V386E |
probably damaging |
Het |
| Fpr3 |
A |
T |
17: 18,191,131 (GRCm39) |
Q134L |
probably damaging |
Het |
| Gm3636 |
T |
A |
14: 17,955,001 (GRCm39) |
R5S |
possibly damaging |
Het |
| Gna15 |
A |
G |
10: 81,345,224 (GRCm39) |
S214P |
probably benign |
Het |
| Hdac9 |
A |
G |
12: 34,220,101 (GRCm39) |
M897T |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,436,600 (GRCm39) |
N424D |
probably benign |
Het |
| Krtap27-1 |
A |
G |
16: 88,468,316 (GRCm39) |
V76A |
possibly damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,900,995 (GRCm39) |
H433Q |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,197,298 (GRCm39) |
D1180G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,577,925 (GRCm39) |
C20R |
unknown |
Het |
| Mphosph9 |
T |
C |
5: 124,450,854 (GRCm39) |
N306D |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,327 (GRCm39) |
R328G |
probably benign |
Het |
| Mslnl |
C |
T |
17: 25,961,694 (GRCm39) |
P117S |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,419,833 (GRCm39) |
K117M |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,532,664 (GRCm39) |
N430S |
probably benign |
Het |
| Myl1 |
T |
C |
1: 66,973,683 (GRCm39) |
I8V |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,644,041 (GRCm39) |
D260E |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,114 (GRCm39) |
R291S |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 56,999,093 (GRCm39) |
V448A |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,616 (GRCm39) |
E647G |
possibly damaging |
Het |
| Or4c12 |
C |
A |
2: 89,773,725 (GRCm39) |
V245L |
possibly damaging |
Het |
| Or52a5b |
A |
G |
7: 103,417,478 (GRCm39) |
I42T |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,120 (GRCm39) |
M33T |
possibly damaging |
Het |
| Or8s10 |
C |
A |
15: 98,335,614 (GRCm39) |
A88E |
probably benign |
Het |
| Patj |
A |
T |
4: 98,427,310 (GRCm39) |
I172F |
unknown |
Het |
| Per1 |
T |
C |
11: 68,995,636 (GRCm39) |
S739P |
possibly damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,306,859 (GRCm39) |
V510G |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,379 (GRCm39) |
V79D |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,859,801 (GRCm39) |
T123A |
probably benign |
Het |
| Ptpn23 |
C |
A |
9: 110,237,101 (GRCm39) |
|
probably null |
Het |
| Rcbtb2 |
C |
T |
14: 73,414,500 (GRCm39) |
S437L |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,228,027 (GRCm39) |
L358F |
probably damaging |
Het |
| Rxfp4 |
T |
A |
3: 88,559,390 (GRCm39) |
R354* |
probably null |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,281,359 (GRCm39) |
D317V |
probably damaging |
Het |
| Slco5a1 |
A |
G |
1: 13,059,802 (GRCm39) |
|
probably null |
Het |
| Snx14 |
T |
A |
9: 88,265,832 (GRCm39) |
T768S |
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,353,462 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
T |
6: 83,528,954 (GRCm39) |
A364T |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,865,618 (GRCm39) |
I6N |
possibly damaging |
Het |
| Tmem106b |
A |
T |
6: 13,082,430 (GRCm39) |
T202S |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,450 (GRCm39) |
V205A |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,614,922 (GRCm39) |
R136* |
probably null |
Het |
| Trim46 |
T |
C |
3: 89,142,466 (GRCm39) |
T674A |
possibly damaging |
Het |
| Trmt13 |
T |
A |
3: 116,376,356 (GRCm39) |
Y345F |
possibly damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,173,568 (GRCm39) |
H20R |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,571,419 (GRCm39) |
|
probably null |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,401 (GRCm39) |
F273Y |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,298 (GRCm39) |
I330N |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,394,551 (GRCm39) |
F679L |
probably damaging |
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 |
|
R7946:Ccdc7a
|
UTSW |
8 |
129,643,627 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- GAGAACACACGCTGGATTCATAAC -3'
(R):5'- TTGACCAGCACAACTAGCAGG -3'
Sequencing Primer
(F):5'- CACGCTGGATTCATAACATGAG -3'
(R):5'- GCAGCTCAGGCAGAATCCATTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation