Incidental Mutation 'R6891:Ccdc7a'
ID |
537220 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
044985-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R6891 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 129753119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 204
(R204L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095158]
[ENSMUST00000125112]
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095158
AA Change: R204L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092780 Gene: ENSMUSG00000025808 AA Change: R204L
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
3e-79 |
PFAM |
SCOP:d1sig__
|
191 |
370 |
1e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125112
AA Change: R204L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117961 Gene: ENSMUSG00000025808 AA Change: R204L
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
4.3e-83 |
PFAM |
SCOP:d1sig__
|
191 |
333 |
9e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214889
AA Change: R204L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
C |
T |
9: 107,806,346 (GRCm39) |
A223V |
probably benign |
Het |
Agbl5 |
G |
T |
5: 31,052,522 (GRCm39) |
R61L |
probably damaging |
Het |
Agmat |
A |
T |
4: 141,483,192 (GRCm39) |
T209S |
probably benign |
Het |
Ankrd34a |
G |
A |
3: 96,505,335 (GRCm39) |
V180I |
probably benign |
Het |
Anks1 |
C |
T |
17: 28,276,398 (GRCm39) |
T1047M |
probably damaging |
Het |
Arhgap21 |
T |
A |
2: 20,855,142 (GRCm39) |
I1407F |
probably damaging |
Het |
Armc1 |
C |
A |
3: 19,189,205 (GRCm39) |
C183F |
probably damaging |
Het |
Atg13 |
A |
G |
2: 91,516,136 (GRCm39) |
M196T |
probably benign |
Het |
AU040320 |
G |
T |
4: 126,740,231 (GRCm39) |
S864I |
possibly damaging |
Het |
Btn2a2 |
T |
C |
13: 23,667,014 (GRCm39) |
D197G |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,325,706 (GRCm39) |
I208T |
probably benign |
Het |
Cbs |
T |
A |
17: 31,841,431 (GRCm39) |
R263S |
probably damaging |
Het |
Cdhr1 |
A |
T |
14: 36,819,334 (GRCm39) |
|
probably null |
Het |
Cers4 |
G |
A |
8: 4,573,731 (GRCm39) |
R378Q |
probably damaging |
Het |
Chst1 |
T |
G |
2: 92,444,088 (GRCm39) |
L187V |
probably benign |
Het |
Clec4e |
A |
T |
6: 123,260,565 (GRCm39) |
N164K |
probably damaging |
Het |
Cln3 |
T |
A |
7: 126,181,975 (GRCm39) |
D29V |
possibly damaging |
Het |
Crybg2 |
A |
G |
4: 133,809,148 (GRCm39) |
S187G |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,286,096 (GRCm39) |
N285K |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,387,664 (GRCm39) |
I58T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,829,135 (GRCm39) |
Y1007C |
probably damaging |
Het |
Eral1 |
C |
T |
11: 77,966,559 (GRCm39) |
V234I |
possibly damaging |
Het |
Fads2b |
C |
A |
2: 85,319,149 (GRCm39) |
M384I |
possibly damaging |
Het |
Fads2b |
T |
G |
2: 85,319,157 (GRCm39) |
T382P |
probably damaging |
Het |
Fam161b |
A |
G |
12: 84,401,554 (GRCm39) |
F400S |
probably damaging |
Het |
Fmnl3 |
T |
C |
15: 99,223,754 (GRCm39) |
D314G |
probably damaging |
Het |
Foxred2 |
A |
T |
15: 77,839,909 (GRCm39) |
L127Q |
probably damaging |
Het |
Gjd2 |
G |
A |
2: 113,843,575 (GRCm39) |
A14V |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,766,173 (GRCm39) |
|
probably null |
Het |
Gpr151 |
T |
A |
18: 42,711,985 (GRCm39) |
D231V |
probably benign |
Het |
Gzf1 |
A |
T |
2: 148,526,689 (GRCm39) |
K387* |
probably null |
Het |
Hfm1 |
T |
A |
5: 107,065,240 (GRCm39) |
K146N |
possibly damaging |
Het |
Hgf |
G |
A |
5: 16,809,920 (GRCm39) |
|
probably null |
Het |
Isoc2b |
A |
G |
7: 4,854,487 (GRCm39) |
S15P |
probably damaging |
Het |
Itga5 |
A |
G |
15: 103,265,970 (GRCm39) |
S126P |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,719,104 (GRCm39) |
D1152G |
probably benign |
Het |
Kcna4 |
C |
T |
2: 107,126,652 (GRCm39) |
S462F |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,394,168 (GRCm39) |
C902S |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,204,068 (GRCm39) |
C523* |
probably null |
Het |
Lama2 |
G |
C |
10: 27,204,078 (GRCm39) |
S520* |
probably null |
Het |
Ltf |
T |
C |
9: 110,854,181 (GRCm39) |
V332A |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,453,153 (GRCm39) |
F349L |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,983,937 (GRCm39) |
N188D |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,631,252 (GRCm39) |
S730P |
possibly damaging |
Het |
Mrgprd |
T |
A |
7: 144,876,087 (GRCm39) |
D319E |
probably benign |
Het |
Mrps9 |
C |
A |
1: 42,944,573 (GRCm39) |
L364I |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,487,673 (GRCm39) |
R626C |
probably damaging |
Het |
Nme3 |
T |
C |
17: 25,115,829 (GRCm39) |
S61P |
probably benign |
Het |
Or2g1 |
A |
G |
17: 38,106,395 (GRCm39) |
Q20R |
probably benign |
Het |
Or52e18 |
A |
G |
7: 104,609,192 (GRCm39) |
I249T |
probably damaging |
Het |
Pald1 |
A |
G |
10: 61,184,311 (GRCm39) |
|
probably null |
Het |
Papola |
A |
T |
12: 105,775,950 (GRCm39) |
|
probably benign |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Plch1 |
T |
C |
3: 63,605,504 (GRCm39) |
T1458A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,543,873 (GRCm39) |
Q659R |
probably damaging |
Het |
Pramel38 |
C |
A |
5: 94,365,978 (GRCm39) |
P32Q |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 53,976,548 (GRCm39) |
V146A |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,713,442 (GRCm39) |
T362A |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,991,300 (GRCm39) |
Y418H |
probably damaging |
Het |
Sorcs1 |
A |
T |
19: 50,213,557 (GRCm39) |
C723* |
probably null |
Het |
Supt7l |
T |
A |
5: 31,680,365 (GRCm39) |
N16Y |
probably damaging |
Het |
Syngr2 |
T |
C |
11: 117,703,499 (GRCm39) |
V105A |
probably damaging |
Het |
Thrb |
T |
A |
14: 17,981,899 (GRCm38) |
V8E |
probably benign |
Het |
Tlx1 |
A |
T |
19: 45,139,757 (GRCm39) |
I135F |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,887,417 (GRCm39) |
I36T |
probably damaging |
Het |
Troap |
A |
G |
15: 98,980,569 (GRCm39) |
Y583C |
possibly damaging |
Het |
Usp17lb |
T |
C |
7: 104,490,307 (GRCm39) |
K207E |
probably benign |
Het |
Vmn2r10 |
C |
T |
5: 109,149,845 (GRCm39) |
V400M |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,240,590 (GRCm39) |
|
probably null |
Het |
Wdr64 |
G |
T |
1: 175,533,634 (GRCm39) |
W90L |
probably damaging |
Het |
Yme1l1 |
A |
G |
2: 23,085,401 (GRCm39) |
E662G |
probably damaging |
Het |
Zfp334 |
C |
T |
2: 165,224,644 (GRCm39) |
V68I |
probably benign |
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 |
|
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 |
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'- GCTCTATGCCCCAGAATAGG -3'
(R):5'- CAAGGAAGCTTCAGGGATTTTCAG -3'
Sequencing Primer
(F):5'- TGCCAGGACCAGGAATGG -3'
(R):5'- AGCTTCAGGGATTTTCAGAATTAAG -3'
|
Posted On |
2018-10-18 |