Incidental Mutation 'R8536:Ccdc7a'
| ID |
659245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7a
|
| Ensembl Gene |
ENSMUSG00000025808 |
| Gene Name |
coiled-coil domain containing 7A |
| Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
| MMRRC Submission |
067890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R8536 (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 129516601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 118
(T118S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000195093]
[ENSMUST00000214889]
[ENSMUST00000216104]
|
| AlphaFold |
Q9D541 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195093
AA Change: T45S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213135
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214889
AA Change: T1483S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216104
AA Change: T118S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217343
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
| Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
| Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
| Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
| Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
| Fbxw24 |
G |
A |
9: 109,452,599 (GRCm39) |
T132I |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
| Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
| Mmp2 |
A |
T |
8: 93,557,253 (GRCm39) |
Y53F |
probably damaging |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
| Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,942 (GRCm39) |
L422P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
| Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
| Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
| Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
| Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,876,823 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
| Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,523 (GRCm39) |
|
probably null |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
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 |
|
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'- TGTACTGAACGACAAAGCCCTC -3'
(R):5'- CAGAGAGTCCATTCCTTCAGG -3'
Sequencing Primer
(F):5'- GGACACCTGCTGTTCTTACATTGG -3'
(R):5'- CAGAGAGTCCATTCCTTCAGGTTAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation