Incidental Mutation 'R6264:Ccdc162'
| ID |
506892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc162
|
| Ensembl Gene |
ENSMUSG00000075225 |
| Gene Name |
coiled-coil domain containing 162 |
| Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41570464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 7
(F7S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019955]
[ENSMUST00000099932]
[ENSMUST00000189488]
[ENSMUST00000190522]
|
| 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 |
probably benign
Transcript: ENSMUST00000189488
AA Change: F7S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: F7S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190522
AA Change: F7S
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140852
Gene: ENSMUSG00000100855
AA Change: F7S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4549
|
2 |
145 |
7.9e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190522
AA Change: F7S
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,264,824 (GRCm39) |
Y175H |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,598,114 (GRCm39) |
V1165D |
possibly damaging |
Het |
| Ahsg |
A |
G |
16: 22,717,611 (GRCm39) |
D224G |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,749,861 (GRCm39) |
D842G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,245,413 (GRCm39) |
N186D |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 113,940,445 (GRCm39) |
Y1234H |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,596,084 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Coro2a |
C |
T |
4: 46,562,912 (GRCm39) |
V81I |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,613,984 (GRCm39) |
V42A |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,049 (GRCm39) |
N326D |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,903,215 (GRCm39) |
L248P |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,341,832 (GRCm39) |
I1375N |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,807,002 (GRCm39) |
N63S |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,502,172 (GRCm39) |
S250P |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,243,656 (GRCm39) |
S667P |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,896,285 (GRCm39) |
|
probably null |
Het |
| Hoxd4 |
A |
T |
2: 74,557,729 (GRCm39) |
Y36F |
possibly damaging |
Het |
| Ifi207 |
A |
G |
1: 173,555,111 (GRCm39) |
V864A |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,235,928 (GRCm39) |
T1418S |
possibly damaging |
Het |
| Klhl41 |
T |
C |
2: 69,510,176 (GRCm39) |
|
probably null |
Het |
| Lman2l |
T |
C |
1: 36,477,850 (GRCm39) |
N162S |
probably damaging |
Het |
| Lrr1 |
T |
G |
12: 69,215,655 (GRCm39) |
V9G |
probably damaging |
Het |
| Marchf5 |
T |
C |
19: 37,198,140 (GRCm39) |
I127T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,163,423 (GRCm39) |
L1350P |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,636,241 (GRCm39) |
I210N |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,182,836 (GRCm39) |
N825S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,524,694 (GRCm39) |
T2312A |
probably damaging |
Het |
| Ndrg4 |
G |
T |
8: 96,436,396 (GRCm39) |
R208L |
probably damaging |
Het |
| Nell2 |
G |
A |
15: 95,244,706 (GRCm39) |
P464S |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 90,299,011 (GRCm39) |
Y374N |
probably damaging |
Het |
| Oprd1 |
A |
C |
4: 131,841,365 (GRCm39) |
C198G |
possibly damaging |
Het |
| Pik3ca |
T |
C |
3: 32,494,863 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
G |
17: 56,411,787 (GRCm39) |
D748A |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,722 (GRCm39) |
T74P |
possibly damaging |
Het |
| Prkg2 |
T |
G |
5: 99,082,223 (GRCm39) |
K52Q |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,442,669 (GRCm39) |
E890D |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,122,659 (GRCm39) |
D100G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,026 (GRCm39) |
T109A |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,818,819 (GRCm38) |
M17L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,293 (GRCm39) |
H260R |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,856,636 (GRCm39) |
D109E |
probably damaging |
Het |
| Scd4 |
C |
A |
19: 44,327,398 (GRCm39) |
S158* |
probably null |
Het |
| Scn7a |
T |
A |
2: 66,505,870 (GRCm39) |
E1673V |
possibly damaging |
Het |
| Sit1 |
A |
T |
4: 43,482,651 (GRCm39) |
D169E |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,885,130 (GRCm39) |
Q470K |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,457,900 (GRCm39) |
C392S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,765,310 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
A |
T |
11: 113,515,932 (GRCm39) |
I284F |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,082,970 (GRCm39) |
V1013M |
probably damaging |
Het |
| Tmem120b |
T |
G |
5: 123,253,763 (GRCm39) |
L232R |
probably damaging |
Het |
| Tmem9b |
C |
A |
7: 109,344,612 (GRCm39) |
V75F |
probably damaging |
Het |
| Trappc3 |
A |
G |
4: 126,167,731 (GRCm39) |
S97G |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,795,829 (GRCm39) |
F73L |
probably damaging |
Het |
| Vmn1r127 |
C |
A |
7: 21,052,930 (GRCm39) |
C286F |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,652 (GRCm39) |
S133P |
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,378,099 (GRCm39) |
Q635* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,324,252 (GRCm39) |
E1185G |
possibly damaging |
Het |
| Zfp354c |
G |
A |
11: 50,706,274 (GRCm39) |
T267I |
probably benign |
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 |
|
|
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 |
|
|
R8088:Ccdc162
|
UTSW |
10 |
41,499,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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'- CTCAGGGCAGAACGATCATAGG -3'
(R):5'- GGGTTATAATAGTCTCAGAACTTACCC -3'
Sequencing Primer
(F):5'- GCAGAACGATCATAGGATGGG -3'
(R):5'- CAAGAGCCTTGTGCTCTT -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation