Incidental Mutation 'R8379:Ccdc7a'
ID |
646867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
067810-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R8379 (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 129691417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 402
(H402L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000214889
AA Change: H402L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,920,126 (GRCm39) |
D314G |
probably benign |
Het |
Ankrd12 |
T |
G |
17: 66,290,939 (GRCm39) |
E1498A |
probably benign |
Het |
Appl1 |
A |
T |
14: 26,647,372 (GRCm39) |
|
probably null |
Het |
Auh |
A |
G |
13: 53,063,349 (GRCm39) |
*116R |
probably null |
Het |
Ccr4 |
T |
C |
9: 114,321,235 (GRCm39) |
T277A |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,889,072 (GRCm39) |
V1302I |
probably benign |
Het |
Csnk1a1 |
T |
C |
18: 61,688,925 (GRCm39) |
I35T |
probably benign |
Het |
Csnk1e |
T |
C |
15: 79,304,882 (GRCm39) |
R374G |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,437,020 (GRCm39) |
R105G |
probably benign |
Het |
Denr |
C |
A |
5: 124,065,124 (GRCm39) |
T159K |
possibly damaging |
Het |
Dmp1 |
C |
A |
5: 104,359,571 (GRCm39) |
Y82* |
probably null |
Het |
Dok3 |
A |
G |
13: 55,671,833 (GRCm39) |
V246A |
probably benign |
Het |
Endov |
A |
C |
11: 119,382,723 (GRCm39) |
K57Q |
possibly damaging |
Het |
Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
Fbln1 |
G |
A |
15: 85,116,773 (GRCm39) |
C275Y |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,034,342 (GRCm39) |
N430D |
possibly damaging |
Het |
Foxi1 |
A |
G |
11: 34,157,530 (GRCm39) |
I165T |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,642,275 (GRCm39) |
I649F |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,899,967 (GRCm39) |
S305P |
probably damaging |
Het |
Grm1 |
G |
A |
10: 10,564,879 (GRCm39) |
T1143M |
possibly damaging |
Het |
Ifi202b |
C |
A |
1: 173,802,298 (GRCm39) |
|
probably null |
Het |
Klhl32 |
A |
T |
4: 24,629,194 (GRCm39) |
D491E |
probably damaging |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Krt13 |
A |
G |
11: 100,009,706 (GRCm39) |
L358P |
probably damaging |
Het |
Limk2 |
G |
A |
11: 3,321,162 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,756,453 (GRCm39) |
D4720G |
probably null |
Het |
Mkln1 |
T |
A |
6: 31,435,900 (GRCm39) |
Y286* |
probably null |
Het |
Muc6 |
C |
A |
7: 141,230,579 (GRCm39) |
E1143* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,901,551 (GRCm39) |
I242M |
probably benign |
Het |
Noc4l |
T |
G |
5: 110,798,828 (GRCm39) |
K241Q |
probably damaging |
Het |
Nup88 |
C |
A |
11: 70,860,607 (GRCm39) |
L57F |
possibly damaging |
Het |
Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
Or51aa2 |
A |
G |
7: 103,188,183 (GRCm39) |
I86T |
possibly damaging |
Het |
Orm1 |
A |
T |
4: 63,264,355 (GRCm39) |
D137V |
probably damaging |
Het |
Osbpl2 |
T |
A |
2: 179,778,895 (GRCm39) |
D9E |
probably damaging |
Het |
P4ha3 |
G |
T |
7: 99,942,986 (GRCm39) |
D124Y |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,943,354 (GRCm39) |
V208A |
probably benign |
Het |
Ppfibp1 |
A |
G |
6: 146,931,843 (GRCm39) |
D963G |
probably damaging |
Het |
Prdx6 |
G |
T |
1: 161,078,660 (GRCm39) |
D9E |
probably benign |
Het |
Prrc2b |
C |
A |
2: 32,104,666 (GRCm39) |
N1381K |
probably damaging |
Het |
Ptpn14 |
T |
A |
1: 189,565,598 (GRCm39) |
V222E |
possibly damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rexo5 |
A |
T |
7: 119,433,508 (GRCm39) |
M422L |
probably benign |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Robo2 |
A |
T |
16: 73,730,588 (GRCm39) |
I1008N |
probably damaging |
Het |
Sidt1 |
T |
A |
16: 44,106,755 (GRCm39) |
Y225F |
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,225,048 (GRCm39) |
E45D |
probably benign |
Het |
Spata31d1a |
T |
G |
13: 59,850,668 (GRCm39) |
M487L |
probably benign |
Het |
St6galnac1 |
C |
A |
11: 116,666,325 (GRCm39) |
|
probably benign |
Het |
Tcp11l2 |
A |
G |
10: 84,449,469 (GRCm39) |
Y478C |
probably damaging |
Het |
Tdrd12 |
G |
T |
7: 35,223,482 (GRCm39) |
C67* |
probably null |
Het |
Tead2 |
G |
A |
7: 44,867,505 (GRCm39) |
G78D |
probably damaging |
Het |
Tfpi2 |
A |
T |
6: 3,963,849 (GRCm39) |
N194K |
probably damaging |
Het |
Timd2 |
A |
G |
11: 46,568,027 (GRCm39) |
|
probably null |
Het |
Tmem270 |
T |
C |
5: 134,930,557 (GRCm39) |
T235A |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,774,157 (GRCm39) |
D224G |
|
Het |
Tsga10 |
G |
T |
1: 37,840,959 (GRCm39) |
Q416K |
probably benign |
Het |
Ulk1 |
C |
A |
5: 110,935,531 (GRCm39) |
L911F |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,584,491 (GRCm39) |
S567P |
probably benign |
Het |
Vmn2r-ps158 |
C |
T |
7: 42,697,270 (GRCm39) |
P776S |
probably damaging |
Het |
Zdhhc3 |
A |
C |
9: 122,918,143 (GRCm39) |
C129G |
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 |
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'- CGAATTCACAGTGCTACAGGAAC -3'
(R):5'- GCAGATGGTTTAACCTAACTTCATC -3'
Sequencing Primer
(F):5'- GACAATGAATCTGTACATCAATAGGG -3'
(R):5'- ACTTCATCAGGCCAGTTAGAG -3'
|
Posted On |
2020-09-02 |