Incidental Mutation 'R8088:Ccdc162'
ID |
629800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
067521-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R8088 (G1)
|
Quality Score |
214.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41499410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1066
(H1066Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019955]
[ENSMUST00000099932]
[ENSMUST00000189488]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019955
|
SMART Domains |
Protein: ENSMUSP00000019955 Gene: ENSMUSG00000075225
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
37 |
N/A |
INTRINSIC |
low complexity region
|
116 |
138 |
N/A |
INTRINSIC |
coiled coil region
|
177 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099932
|
SMART Domains |
Protein: ENSMUSP00000097516 Gene: ENSMUSG00000075225
Domain | Start | End | E-Value | Type |
coiled coil region
|
327 |
366 |
N/A |
INTRINSIC |
low complexity region
|
490 |
512 |
N/A |
INTRINSIC |
coiled coil region
|
551 |
607 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189488
AA Change: H1066Q
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140774 Gene: ENSMUSG00000075225 AA Change: H1066Q
Domain | Start | End | E-Value | Type |
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 96.8%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2c1 |
A |
T |
9: 105,329,768 (GRCm39) |
|
probably null |
Het |
Ccdc134 |
T |
A |
15: 82,015,990 (GRCm39) |
|
probably benign |
Het |
Ccna1 |
A |
G |
3: 54,958,492 (GRCm39) |
S64P |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,215,802 (GRCm39) |
M453V |
probably benign |
Het |
Defb12 |
T |
C |
8: 19,162,837 (GRCm39) |
|
probably null |
Het |
Dhx9 |
C |
A |
1: 153,338,443 (GRCm39) |
V738L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,831,330 (GRCm39) |
N843S |
probably benign |
Het |
Dspp |
A |
G |
5: 104,325,122 (GRCm39) |
D495G |
unknown |
Het |
Dus2 |
A |
G |
8: 106,757,073 (GRCm39) |
M88V |
probably benign |
Het |
Dusp13b |
A |
G |
14: 21,791,305 (GRCm39) |
V49A |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,889,072 (GRCm39) |
I4163L |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
Entpd3 |
A |
C |
9: 120,383,239 (GRCm39) |
R91S |
probably benign |
Het |
Fam83c |
C |
A |
2: 155,673,559 (GRCm39) |
V210F |
probably damaging |
Het |
Flot1 |
G |
A |
17: 36,140,870 (GRCm39) |
A287T |
probably damaging |
Het |
Gm19410 |
A |
G |
8: 36,273,995 (GRCm39) |
K1412E |
probably benign |
Het |
Gsn |
G |
A |
2: 35,182,659 (GRCm39) |
V241M |
possibly damaging |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Heatr5a |
T |
C |
12: 51,994,779 (GRCm39) |
D451G |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,316,915 (GRCm39) |
W3831* |
probably null |
Het |
Il3 |
A |
G |
11: 54,156,375 (GRCm39) |
V119A |
probably benign |
Het |
Jam3 |
T |
C |
9: 27,010,156 (GRCm39) |
K276R |
probably benign |
Het |
Kcnt1 |
G |
A |
2: 25,784,326 (GRCm39) |
G277D |
possibly damaging |
Het |
Kif28 |
T |
A |
1: 179,527,919 (GRCm39) |
D744V |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Loxhd1 |
T |
C |
18: 77,429,709 (GRCm39) |
I535T |
possibly damaging |
Het |
Lzts1 |
A |
C |
8: 69,588,474 (GRCm39) |
L494R |
probably benign |
Het |
Mettl4 |
A |
G |
17: 95,042,795 (GRCm39) |
V347A |
probably damaging |
Het |
Mff |
A |
G |
1: 82,729,370 (GRCm39) |
E270G |
probably damaging |
Het |
Mroh2b |
A |
T |
15: 4,929,985 (GRCm39) |
I24F |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,430,596 (GRCm39) |
Y8102* |
probably null |
Het |
Myh14 |
A |
T |
7: 44,314,920 (GRCm39) |
M1K |
probably null |
Het |
Myo18b |
T |
A |
5: 113,027,376 (GRCm39) |
|
probably benign |
Het |
Neurl1a |
C |
A |
19: 47,245,873 (GRCm39) |
P502T |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,194,997 (GRCm39) |
W484* |
probably null |
Het |
Or2y3 |
T |
A |
17: 38,393,452 (GRCm39) |
H139L |
possibly damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,602 (GRCm39) |
I104N |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,807 (GRCm39) |
V540A |
possibly damaging |
Het |
Pcdhga9 |
A |
G |
18: 37,870,007 (GRCm39) |
|
probably benign |
Het |
Pm20d1 |
A |
C |
1: 131,729,501 (GRCm39) |
N176T |
probably benign |
Het |
Pnldc1 |
T |
C |
17: 13,116,189 (GRCm39) |
D271G |
probably damaging |
Het |
Pold3 |
A |
G |
7: 99,761,508 (GRCm39) |
V63A |
probably damaging |
Het |
Rbm18 |
A |
C |
2: 36,017,196 (GRCm39) |
S61A |
probably benign |
Het |
Rdh14 |
T |
C |
12: 10,444,551 (GRCm39) |
L134P |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rtel1 |
A |
G |
2: 180,964,138 (GRCm39) |
T46A |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,412,363 (GRCm39) |
I823V |
probably damaging |
Het |
S1pr1 |
A |
G |
3: 115,505,683 (GRCm39) |
S304P |
probably damaging |
Het |
Scfd2 |
A |
G |
5: 74,692,024 (GRCm39) |
V86A |
probably benign |
Het |
Scgb1a1 |
C |
T |
19: 9,062,599 (GRCm39) |
V66M |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,526,721 (GRCm39) |
M46K |
|
Het |
Sgsm1 |
A |
G |
5: 113,403,134 (GRCm39) |
M971T |
probably damaging |
Het |
Slc5a11 |
T |
C |
7: 122,864,951 (GRCm39) |
I419T |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,394,431 (GRCm39) |
T372S |
possibly damaging |
Het |
Slx9 |
T |
C |
10: 77,350,229 (GRCm39) |
N53S |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,068,679 (GRCm39) |
Y276N |
probably benign |
Het |
Sprr2k |
C |
T |
3: 92,340,796 (GRCm39) |
R49W |
unknown |
Het |
Sspo |
G |
A |
6: 48,434,547 (GRCm39) |
C1013Y |
probably damaging |
Het |
Ssr2 |
A |
G |
3: 88,487,190 (GRCm39) |
R2G |
possibly damaging |
Het |
St18 |
C |
A |
1: 6,898,229 (GRCm39) |
T677K |
probably benign |
Het |
Thap11 |
A |
T |
8: 106,582,527 (GRCm39) |
I179F |
probably damaging |
Het |
Trf |
C |
A |
9: 103,089,130 (GRCm39) |
G586C |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,192,770 (GRCm39) |
N299S |
probably benign |
Het |
Xrcc5 |
C |
A |
1: 72,351,595 (GRCm39) |
A55E |
probably damaging |
Het |
|
Other mutations in Ccdc162 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Ccdc162
|
APN |
10 |
41,457,335 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01366:Ccdc162
|
APN |
10 |
41,456,302 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01924:Ccdc162
|
APN |
10 |
41,445,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02504:Ccdc162
|
APN |
10 |
41,428,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02678:Ccdc162
|
APN |
10 |
41,437,151 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02955:Ccdc162
|
APN |
10 |
41,437,123 (GRCm39) |
missense |
probably damaging |
1.00 |
beeswax
|
UTSW |
10 |
41,437,222 (GRCm39) |
missense |
possibly damaging |
0.57 |
honeycomb
|
UTSW |
10 |
41,520,637 (GRCm39) |
missense |
probably benign |
0.35 |
FR4304:Ccdc162
|
UTSW |
10 |
41,432,117 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0432:Ccdc162
|
UTSW |
10 |
41,417,856 (GRCm39) |
missense |
probably benign |
0.01 |
R0585:Ccdc162
|
UTSW |
10 |
41,462,375 (GRCm39) |
missense |
probably benign |
0.03 |
R0645:Ccdc162
|
UTSW |
10 |
41,462,407 (GRCm39) |
splice site |
probably benign |
|
R0731:Ccdc162
|
UTSW |
10 |
41,455,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R1426:Ccdc162
|
UTSW |
10 |
41,429,178 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1447:Ccdc162
|
UTSW |
10 |
41,456,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1712:Ccdc162
|
UTSW |
10 |
41,415,427 (GRCm39) |
missense |
probably benign |
0.35 |
R2138:Ccdc162
|
UTSW |
10 |
41,457,293 (GRCm39) |
missense |
probably benign |
0.15 |
R2351:Ccdc162
|
UTSW |
10 |
41,431,968 (GRCm39) |
critical splice donor site |
probably null |
|
R2394:Ccdc162
|
UTSW |
10 |
41,445,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R2431:Ccdc162
|
UTSW |
10 |
41,445,841 (GRCm39) |
missense |
probably benign |
|
R2571:Ccdc162
|
UTSW |
10 |
41,428,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R2873:Ccdc162
|
UTSW |
10 |
41,531,095 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2926:Ccdc162
|
UTSW |
10 |
41,437,203 (GRCm39) |
start gained |
probably benign |
|
R2999:Ccdc162
|
UTSW |
10 |
41,456,286 (GRCm39) |
missense |
probably benign |
0.00 |
R3412:Ccdc162
|
UTSW |
10 |
41,415,545 (GRCm39) |
splice site |
probably benign |
|
R3712:Ccdc162
|
UTSW |
10 |
41,463,375 (GRCm39) |
missense |
probably benign |
|
R3736:Ccdc162
|
UTSW |
10 |
41,465,564 (GRCm39) |
splice site |
probably null |
|
R4112:Ccdc162
|
UTSW |
10 |
41,532,324 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4557:Ccdc162
|
UTSW |
10 |
41,463,384 (GRCm39) |
missense |
probably benign |
0.01 |
R4580:Ccdc162
|
UTSW |
10 |
41,437,136 (GRCm39) |
missense |
probably benign |
0.02 |
R4685:Ccdc162
|
UTSW |
10 |
41,557,682 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4837:Ccdc162
|
UTSW |
10 |
41,549,863 (GRCm39) |
missense |
probably benign |
0.00 |
R5155:Ccdc162
|
UTSW |
10 |
41,455,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Ccdc162
|
UTSW |
10 |
41,429,576 (GRCm39) |
splice site |
probably null |
|
R5645:Ccdc162
|
UTSW |
10 |
41,428,352 (GRCm39) |
missense |
probably benign |
0.06 |
R5656:Ccdc162
|
UTSW |
10 |
41,445,930 (GRCm39) |
missense |
probably benign |
0.26 |
R5682:Ccdc162
|
UTSW |
10 |
41,432,799 (GRCm39) |
nonsense |
probably null |
|
R5808:Ccdc162
|
UTSW |
10 |
41,531,500 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5909:Ccdc162
|
UTSW |
10 |
41,437,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Ccdc162
|
UTSW |
10 |
41,437,159 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6057:Ccdc162
|
UTSW |
10 |
41,510,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6211:Ccdc162
|
UTSW |
10 |
41,506,141 (GRCm39) |
nonsense |
probably null |
|
R6264:Ccdc162
|
UTSW |
10 |
41,570,464 (GRCm39) |
missense |
probably benign |
0.31 |
R6329:Ccdc162
|
UTSW |
10 |
41,539,147 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6349:Ccdc162
|
UTSW |
10 |
41,570,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R6398:Ccdc162
|
UTSW |
10 |
41,503,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6453:Ccdc162
|
UTSW |
10 |
41,426,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:Ccdc162
|
UTSW |
10 |
41,491,976 (GRCm39) |
missense |
probably benign |
0.00 |
R6627:Ccdc162
|
UTSW |
10 |
41,539,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R6722:Ccdc162
|
UTSW |
10 |
41,520,637 (GRCm39) |
missense |
probably benign |
0.35 |
R6750:Ccdc162
|
UTSW |
10 |
41,437,222 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6968:Ccdc162
|
UTSW |
10 |
41,549,840 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6970:Ccdc162
|
UTSW |
10 |
41,491,954 (GRCm39) |
missense |
probably benign |
0.03 |
R6989:Ccdc162
|
UTSW |
10 |
41,457,349 (GRCm39) |
missense |
probably damaging |
0.99 |
R7008:Ccdc162
|
UTSW |
10 |
41,428,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R7135:Ccdc162
|
UTSW |
10 |
41,549,855 (GRCm39) |
missense |
probably benign |
0.00 |
R7139:Ccdc162
|
UTSW |
10 |
41,542,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7224:Ccdc162
|
UTSW |
10 |
41,437,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7230:Ccdc162
|
UTSW |
10 |
41,554,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Ccdc162
|
UTSW |
10 |
41,431,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R7261:Ccdc162
|
UTSW |
10 |
41,437,136 (GRCm39) |
missense |
probably benign |
0.02 |
R7390:Ccdc162
|
UTSW |
10 |
41,510,044 (GRCm39) |
missense |
probably benign |
|
R7712:Ccdc162
|
UTSW |
10 |
41,503,223 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7726:Ccdc162
|
UTSW |
10 |
41,429,071 (GRCm39) |
missense |
probably benign |
0.00 |
R7754:Ccdc162
|
UTSW |
10 |
41,463,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Ccdc162
|
UTSW |
10 |
41,566,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8053:Ccdc162
|
UTSW |
10 |
41,520,577 (GRCm39) |
missense |
probably benign |
|
R8094:Ccdc162
|
UTSW |
10 |
41,488,864 (GRCm39) |
missense |
probably benign |
0.02 |
R8097:Ccdc162
|
UTSW |
10 |
41,510,115 (GRCm39) |
missense |
probably benign |
0.03 |
R8321:Ccdc162
|
UTSW |
10 |
41,510,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R8377:Ccdc162
|
UTSW |
10 |
41,457,306 (GRCm39) |
missense |
probably benign |
0.08 |
R8399:Ccdc162
|
UTSW |
10 |
41,415,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R8669:Ccdc162
|
UTSW |
10 |
41,428,352 (GRCm39) |
missense |
probably benign |
0.06 |
R8772:Ccdc162
|
UTSW |
10 |
41,506,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R8810:Ccdc162
|
UTSW |
10 |
41,542,737 (GRCm39) |
missense |
probably benign |
0.41 |
R8903:Ccdc162
|
UTSW |
10 |
41,531,440 (GRCm39) |
critical splice donor site |
probably null |
|
R8928:Ccdc162
|
UTSW |
10 |
41,462,245 (GRCm39) |
splice site |
probably benign |
|
R8950:Ccdc162
|
UTSW |
10 |
41,474,507 (GRCm39) |
missense |
probably benign |
0.00 |
R8960:Ccdc162
|
UTSW |
10 |
41,429,178 (GRCm39) |
missense |
probably damaging |
0.96 |
R8985:Ccdc162
|
UTSW |
10 |
41,432,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R9071:Ccdc162
|
UTSW |
10 |
41,457,174 (GRCm39) |
nonsense |
probably null |
|
R9254:Ccdc162
|
UTSW |
10 |
41,488,944 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9297:Ccdc162
|
UTSW |
10 |
41,506,110 (GRCm39) |
missense |
probably benign |
|
R9318:Ccdc162
|
UTSW |
10 |
41,506,110 (GRCm39) |
missense |
probably benign |
|
R9518:Ccdc162
|
UTSW |
10 |
41,465,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R9525:Ccdc162
|
UTSW |
10 |
41,559,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R9539:Ccdc162
|
UTSW |
10 |
41,463,407 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9638:Ccdc162
|
UTSW |
10 |
41,437,159 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Ccdc162
|
UTSW |
10 |
41,530,993 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1176:Ccdc162
|
UTSW |
10 |
41,481,104 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1176:Ccdc162
|
UTSW |
10 |
41,429,127 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Ccdc162
|
UTSW |
10 |
41,566,088 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Ccdc162
|
UTSW |
10 |
41,559,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCATGTTTTCCCTACACAGAC -3'
(R):5'- AAGTCCTGGGTGTCTCGATG -3'
Sequencing Primer
(F):5'- TGTTTTCCCTACACAGACAAGAAAC -3'
(R):5'- GATGGTTTCACTAATCGATGAGCTCC -3'
|
Posted On |
2020-06-30 |