Incidental Mutation 'R7390:Ccdc162'
ID |
573373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc162
|
Ensembl Gene |
ENSMUSG00000075225 |
Gene Name |
coiled-coil domain containing 162 |
Synonyms |
Gm29096, Gm6976, 5033413D22Rik |
MMRRC Submission |
045472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R7390 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41414838-41592586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41510044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 854
(C854R)
|
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 |
probably benign
Transcript: ENSMUST00000189488
AA Change: C854R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140774 Gene: ENSMUSG00000075225 AA Change: C854R
Domain | Start | End | E-Value | Type |
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
T |
13: 60,992,152 (GRCm39) |
D291E |
probably benign |
Het |
Abca9 |
C |
T |
11: 110,036,487 (GRCm39) |
V541I |
probably benign |
Het |
Adamts15 |
A |
T |
9: 30,822,404 (GRCm39) |
|
probably null |
Het |
Adgrg7 |
A |
G |
16: 56,553,207 (GRCm39) |
I630T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,980,569 (GRCm39) |
I618V |
probably benign |
Het |
Amotl2 |
T |
A |
9: 102,608,889 (GRCm39) |
V801E |
probably damaging |
Het |
Ankrd17 |
T |
C |
5: 90,430,779 (GRCm39) |
T1002A |
probably benign |
Het |
Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
Bpifb2 |
A |
G |
2: 153,731,726 (GRCm39) |
N293S |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,736,304 (GRCm39) |
E1225G |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,741,833 (GRCm39) |
E2146G |
possibly damaging |
Het |
Ces1a |
A |
C |
8: 93,771,469 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
G |
1: 172,368,925 (GRCm39) |
D444E |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,843,802 (GRCm39) |
V296A |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,552,931 (GRCm39) |
R1011H |
probably benign |
Het |
Cops4 |
C |
T |
5: 100,691,741 (GRCm39) |
R347C |
probably damaging |
Het |
D16Ertd472e |
G |
T |
16: 78,344,576 (GRCm39) |
D177E |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,291,600 (GRCm39) |
V195A |
possibly damaging |
Het |
Dipk2a |
A |
G |
9: 94,419,436 (GRCm39) |
S165P |
probably damaging |
Het |
Dpagt1 |
G |
A |
9: 44,243,319 (GRCm39) |
V285I |
probably benign |
Het |
Dspp |
G |
T |
5: 104,323,552 (GRCm39) |
A232S |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,615,411 (GRCm39) |
I726T |
possibly damaging |
Het |
Ephx2 |
G |
A |
14: 66,347,904 (GRCm39) |
|
|
Het |
Fat1 |
T |
C |
8: 45,405,511 (GRCm39) |
V754A |
possibly damaging |
Het |
Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,077,314 (GRCm39) |
S953T |
possibly damaging |
Het |
Gm1123 |
T |
C |
9: 98,893,033 (GRCm39) |
N315S |
probably benign |
Het |
Golga2 |
A |
G |
2: 32,178,202 (GRCm39) |
E37G |
|
Het |
Gpr139 |
T |
A |
7: 118,743,835 (GRCm39) |
Q250L |
probably benign |
Het |
Grik3 |
C |
T |
4: 125,543,532 (GRCm39) |
R283C |
probably damaging |
Het |
Haao |
A |
C |
17: 84,154,081 (GRCm39) |
V22G |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,266,490 (GRCm39) |
F1884I |
probably damaging |
Het |
Hyal3 |
G |
A |
9: 107,462,166 (GRCm39) |
G67S |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,424 (GRCm39) |
I266K |
probably benign |
Het |
Klhl26 |
A |
C |
8: 70,905,499 (GRCm39) |
L137R |
probably damaging |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Lars1 |
A |
G |
18: 42,343,083 (GRCm39) |
|
probably null |
Het |
Lats1 |
C |
T |
10: 7,577,859 (GRCm39) |
Q328* |
probably null |
Het |
Lingo3 |
G |
A |
10: 80,670,463 (GRCm39) |
T489I |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,066,261 (GRCm39) |
V65A |
possibly damaging |
Het |
Lysmd1 |
T |
C |
3: 95,045,795 (GRCm39) |
S211P |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,540,626 (GRCm39) |
S21N |
unknown |
Het |
Nav1 |
T |
C |
1: 135,512,656 (GRCm39) |
T135A |
probably benign |
Het |
Nt5c1a |
G |
C |
4: 123,102,272 (GRCm39) |
R66T |
probably benign |
Het |
Pclo |
T |
C |
5: 14,732,024 (GRCm39) |
Y3509H |
unknown |
Het |
Pkp4 |
G |
A |
2: 59,140,484 (GRCm39) |
G397R |
possibly damaging |
Het |
Ppp1r21 |
G |
A |
17: 88,856,958 (GRCm39) |
A138T |
probably benign |
Het |
Pum3 |
A |
T |
19: 27,401,642 (GRCm39) |
V136D |
probably benign |
Het |
Rab11fip3 |
A |
T |
17: 26,287,126 (GRCm39) |
D342E |
possibly damaging |
Het |
Rcvrn |
T |
A |
11: 67,590,883 (GRCm39) |
W156R |
probably damaging |
Het |
Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
Serpina1d |
T |
C |
12: 103,734,037 (GRCm39) |
D89G |
possibly damaging |
Het |
Sgsm3 |
T |
A |
15: 80,893,021 (GRCm39) |
V366E |
possibly damaging |
Het |
Shank3 |
T |
G |
15: 89,433,515 (GRCm39) |
L1420R |
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,608,100 (GRCm39) |
L215* |
probably null |
Het |
Slc16a13 |
C |
T |
11: 70,109,797 (GRCm39) |
V235I |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,907,187 (GRCm39) |
D29G |
probably benign |
Het |
Speer1a |
T |
C |
5: 11,394,879 (GRCm39) |
V122A |
probably benign |
Het |
Spns2 |
T |
A |
11: 72,347,704 (GRCm39) |
T329S |
possibly damaging |
Het |
Sufu |
G |
A |
19: 46,439,108 (GRCm39) |
|
probably null |
Het |
Tll2 |
A |
G |
19: 41,108,608 (GRCm39) |
|
probably null |
Het |
Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
Trim42 |
A |
C |
9: 97,241,182 (GRCm39) |
N683K |
probably damaging |
Het |
Trmt5 |
A |
G |
12: 73,328,394 (GRCm39) |
S270P |
probably damaging |
Het |
Vmn1r59 |
C |
A |
7: 5,456,986 (GRCm39) |
R258L |
possibly damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,482,851 (GRCm39) |
L41S |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,525,329 (GRCm39) |
E329V |
probably damaging |
Het |
Ywhae |
G |
T |
11: 75,655,487 (GRCm39) |
E253* |
probably null |
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 |
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'- TTCTCTGGCCAAACAAGGGG -3'
(R):5'- ACGTGTAGGAGCAGTGATATTG -3'
Sequencing Primer
(F):5'- AGAGTGCCAAACGGGTGAAC -3'
(R):5'- GTCAGGTATCTTCAAAATCCGTATC -3'
|
Posted On |
2019-09-13 |