Incidental Mutation 'RF008:Ccdc7a'
| ID |
602993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7a
|
| Ensembl Gene |
ENSMUSG00000025808 |
| Gene Name |
coiled-coil domain containing 7A |
| Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
RF008 (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 G
at 129691434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 396
(Q396H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
| AlphaFold |
Q9D541 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214889
AA Change: Q396H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
CCACGACC |
CCACGACCACGACC |
16: 56,447,952 (GRCm39) |
|
probably benign |
Het |
| Acan |
T |
G |
7: 78,742,148 (GRCm39) |
V515G |
possibly damaging |
Het |
| Acap3 |
TGG |
TGGACTGCTGCATCCAGG |
4: 155,989,555 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
G |
GGCT |
19: 5,475,266 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,977 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arid1b |
GCG |
GCGACG |
17: 5,045,869 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGG |
CGGAGG |
17: 5,045,870 (GRCm39) |
|
probably benign |
Het |
| Begain |
G |
GCCGCCC |
12: 108,999,363 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,317,882 (GRCm39) |
M1500T |
probably damaging |
Het |
| Casp16 |
C |
A |
17: 23,774,201 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
T |
C |
6: 91,876,347 (GRCm39) |
S395P |
possibly damaging |
Het |
| Ccdc85c |
CC |
CCGGC |
12: 108,240,887 (GRCm39) |
|
probably benign |
Het |
| Cemip |
T |
C |
7: 83,610,843 (GRCm39) |
T704A |
probably damaging |
Het |
| Cfap68 |
C |
T |
9: 50,677,067 (GRCm39) |
R8H |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,793,547 (GRCm39) |
P1370S |
unknown |
Het |
| Cts8 |
T |
C |
13: 61,397,102 (GRCm39) |
I273V |
probably benign |
Het |
| Cyp2c50 |
T |
A |
19: 40,078,268 (GRCm39) |
I42N |
probably damaging |
Het |
| Dbt |
T |
G |
3: 116,341,717 (GRCm39) |
Y439* |
probably null |
Het |
| Dennd1b |
T |
A |
1: 138,981,135 (GRCm39) |
D116E |
probably damaging |
Het |
| Dkk2 |
T |
A |
3: 131,883,863 (GRCm39) |
H254Q |
probably damaging |
Het |
| Dpy30 |
C |
A |
17: 74,622,902 (GRCm39) |
V27F |
possibly damaging |
Het |
| Efhd2 |
GCCGCC |
GCCGCCCCCGCC |
4: 141,602,069 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
T |
4: 137,903,235 (GRCm39) |
E1020V |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,458,706 (GRCm39) |
S156T |
probably benign |
Het |
| Fancd2os |
T |
C |
6: 113,574,881 (GRCm39) |
T42A |
probably damaging |
Het |
| Fbrsl1 |
TGTGC |
TGTGCGGGTGTGGGTGC |
5: 110,525,984 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,808,184 (GRCm39) |
V1501A |
probably benign |
Het |
| Gabrb2 |
A |
G |
11: 42,517,705 (GRCm39) |
Y509C |
probably damaging |
Het |
| Gm8369 |
GTGT |
GTGTTTGT |
19: 11,489,118 (GRCm39) |
|
probably null |
Het |
| Gpr139 |
T |
C |
7: 118,744,090 (GRCm39) |
D165G |
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,120,480 (GRCm39) |
E603G |
probably damaging |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Ifitm10 |
T |
A |
7: 141,882,330 (GRCm39) |
M147L |
unknown |
Het |
| Itpkb |
C |
T |
1: 180,160,887 (GRCm39) |
R338W |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,336,195 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC |
ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,974 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACCACAGC |
AGCCACCACAGCCACCGCCACCACAGC |
1: 83,020,000 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCA |
CAGCCATAGCCA |
1: 83,019,849 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCAC |
AGCCACCGCCAC |
1: 83,019,856 (GRCm39) |
|
probably benign |
Het |
| Las1l |
AGTGG |
AGTGGTGG |
X: 94,984,422 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,922,833 (GRCm39) |
Y613H |
probably damaging |
Het |
| Mlf2 |
C |
A |
6: 124,911,259 (GRCm39) |
H91Q |
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,074,212 (GRCm39) |
I152N |
probably damaging |
Het |
| Or10d4c |
T |
C |
9: 39,558,559 (GRCm39) |
M179T |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,447,711 (GRCm39) |
I275N |
possibly damaging |
Het |
| Pdik1l |
CACCAC |
CACCACAACCAC |
4: 134,006,822 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,583,337 (GRCm39) |
S1054G |
probably damaging |
Het |
| Pkhd1l1 |
TTTT |
TTTTTTTTTTGTTT |
15: 44,421,901 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,300,263 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CACCACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCACCAC |
17: 37,275,946 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,426,452 (GRCm39) |
R444S |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,110,223 (GRCm39) |
F163L |
probably damaging |
Het |
| Rnaseh2a |
A |
T |
8: 85,686,687 (GRCm39) |
L154* |
probably null |
Het |
| Rpp38 |
A |
G |
2: 3,330,072 (GRCm39) |
S277P |
unknown |
Het |
| Setd1a |
GGTAGTGGT |
GGTAGTGGTTGTAGTGGT |
7: 127,384,486 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
CGACAGCAGCAGAG |
CG |
11: 66,416,749 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,395,175 (GRCm39) |
L34Q |
possibly damaging |
Het |
| Slc7a6 |
G |
A |
8: 106,922,030 (GRCm39) |
V386I |
probably benign |
Het |
| Spry1 |
C |
T |
3: 37,697,264 (GRCm39) |
T169I |
possibly damaging |
Het |
| Sry |
TGCTGCTGCTG |
TGCTGCTGCTGCTG |
Y: 2,662,826 (GRCm39) |
|
probably benign |
Het |
| Stk24 |
A |
T |
14: 121,532,172 (GRCm39) |
I275N |
probably benign |
Het |
| Strn |
TC |
TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC |
17: 78,984,716 (GRCm39) |
|
probably null |
Het |
| Tcp11l2 |
C |
A |
10: 84,449,388 (GRCm39) |
P451Q |
probably damaging |
Het |
| Tfeb |
AGC |
AGCTGC |
17: 48,097,027 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,138 (GRCm39) |
|
probably benign |
Het |
| V1ra8 |
A |
G |
6: 90,180,591 (GRCm39) |
T265A |
probably benign |
Het |
| Zfp106 |
CTCCTGGCAGT |
CT |
2: 120,355,026 (GRCm39) |
|
probably benign |
Het |
| Zfp612 |
C |
A |
8: 110,816,193 (GRCm39) |
H467N |
probably damaging |
Het |
| Zfp777 |
A |
T |
6: 48,018,982 (GRCm39) |
Y317* |
probably null |
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 |
|
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 |
|
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'- GGTCAGTTTCTCCCTCACCTGA -3'
(R):5'- ACTTGGGAAATGTCTGGGCTT -3'
Sequencing Primer
(F):5'- GATCCTTCCTTTGTCCACCCAAC -3'
(R):5'- CAGTGTGTGCAGATTCCT -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation