Incidental Mutation 'R9409:Ccdc138'
| ID |
711710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc138
|
| Ensembl Gene |
ENSMUSG00000038010 |
| Gene Name |
coiled-coil domain containing 138 |
| Synonyms |
6230424H07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R9409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58333770-58412066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58374135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 385
(H385R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036576]
|
| AlphaFold |
Q0VF22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036576
AA Change: H385R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: H385R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
259 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
365 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,211,888 (GRCm39) |
I538F |
possibly damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Cep43 |
T |
C |
17: 8,411,088 (GRCm39) |
V367A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,478,704 (GRCm39) |
D222G |
probably benign |
Het |
| Cpb2 |
A |
T |
14: 75,505,522 (GRCm39) |
I173F |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,472,665 (GRCm39) |
S28P |
probably damaging |
Het |
| Eomes |
A |
T |
9: 118,314,069 (GRCm39) |
T705S |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,977,246 (GRCm39) |
W98R |
possibly damaging |
Het |
| Gm12258 |
T |
C |
11: 58,745,119 (GRCm39) |
F17L |
|
Het |
| Grin2c |
C |
T |
11: 115,144,106 (GRCm39) |
R697H |
probably benign |
Het |
| Ighmbp2 |
C |
A |
19: 3,318,832 (GRCm39) |
A415S |
possibly damaging |
Het |
| Il6st |
C |
G |
13: 112,640,872 (GRCm39) |
Q883E |
probably benign |
Het |
| Med17 |
T |
C |
9: 15,176,695 (GRCm39) |
M511V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b39 |
G |
A |
9: 37,996,584 (GRCm39) |
G151R |
probably damaging |
Het |
| Pacrg |
A |
T |
17: 10,996,065 (GRCm39) |
I67N |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,749,585 (GRCm39) |
S964P |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,160,190 (GRCm39) |
T436A |
probably damaging |
Het |
| Pgap4 |
T |
A |
4: 49,586,043 (GRCm39) |
E375V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,473,192 (GRCm39) |
L650Q |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,106,217 (GRCm39) |
T323S |
probably benign |
Het |
| Rhot2 |
T |
C |
17: 26,060,085 (GRCm39) |
T299A |
probably benign |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,695,973 (GRCm39) |
V2965F |
probably damaging |
Het |
| Serpina1b |
A |
T |
12: 103,694,607 (GRCm39) |
M379K |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,192,797 (GRCm39) |
Q118R |
probably benign |
Het |
| Slc16a14 |
G |
A |
1: 84,907,116 (GRCm39) |
Q53* |
probably null |
Het |
| Tas2r130 |
T |
A |
6: 131,607,660 (GRCm39) |
D45V |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,945 (GRCm39) |
N361D |
probably damaging |
Het |
| Tmtc2 |
G |
T |
10: 105,159,419 (GRCm39) |
L560M |
probably damaging |
Het |
| Trav13-5 |
G |
T |
14: 54,033,277 (GRCm39) |
R62L |
possibly damaging |
Het |
|
| Other mutations in Ccdc138 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Ccdc138
|
APN |
10 |
58,411,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00957:Ccdc138
|
APN |
10 |
58,364,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL01012:Ccdc138
|
APN |
10 |
58,376,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01725:Ccdc138
|
APN |
10 |
58,364,745 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01996:Ccdc138
|
APN |
10 |
58,397,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02083:Ccdc138
|
APN |
10 |
58,380,736 (GRCm39) |
splice site |
probably benign |
|
|
IGL02652:Ccdc138
|
APN |
10 |
58,348,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02820:Ccdc138
|
APN |
10 |
58,364,721 (GRCm39) |
splice site |
probably benign |
|
|
IGL02934:Ccdc138
|
APN |
10 |
58,409,402 (GRCm39) |
splice site |
probably benign |
|
|
IGL03231:Ccdc138
|
APN |
10 |
58,409,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Ccdc138
|
UTSW |
10 |
58,364,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Ccdc138
|
UTSW |
10 |
58,411,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0480:Ccdc138
|
UTSW |
10 |
58,397,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0560:Ccdc138
|
UTSW |
10 |
58,411,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Ccdc138
|
UTSW |
10 |
58,411,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Ccdc138
|
UTSW |
10 |
58,380,939 (GRCm39) |
splice site |
probably benign |
|
|
R2032:Ccdc138
|
UTSW |
10 |
58,348,984 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2097:Ccdc138
|
UTSW |
10 |
58,397,759 (GRCm39) |
nonsense |
probably null |
|
|
R2350:Ccdc138
|
UTSW |
10 |
58,397,715 (GRCm39) |
splice site |
probably benign |
|
|
R2571:Ccdc138
|
UTSW |
10 |
58,349,044 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3787:Ccdc138
|
UTSW |
10 |
58,374,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3805:Ccdc138
|
UTSW |
10 |
58,397,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4582:Ccdc138
|
UTSW |
10 |
58,343,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4630:Ccdc138
|
UTSW |
10 |
58,409,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Ccdc138
|
UTSW |
10 |
58,409,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Ccdc138
|
UTSW |
10 |
58,409,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Ccdc138
|
UTSW |
10 |
58,397,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4908:Ccdc138
|
UTSW |
10 |
58,380,817 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5032:Ccdc138
|
UTSW |
10 |
58,409,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Ccdc138
|
UTSW |
10 |
58,343,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5287:Ccdc138
|
UTSW |
10 |
58,411,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5683:Ccdc138
|
UTSW |
10 |
58,376,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Ccdc138
|
UTSW |
10 |
58,411,579 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6530:Ccdc138
|
UTSW |
10 |
58,380,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Ccdc138
|
UTSW |
10 |
58,374,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7217:Ccdc138
|
UTSW |
10 |
58,345,422 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9031:Ccdc138
|
UTSW |
10 |
58,380,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Ccdc138
|
UTSW |
10 |
58,397,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9104:Ccdc138
|
UTSW |
10 |
58,348,982 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9134:Ccdc138
|
UTSW |
10 |
58,374,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9300:Ccdc138
|
UTSW |
10 |
58,343,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTCTAAGCATGCATTTAATGTCTT -3'
(R):5'- CAAGCTTTTCCTTACTAAATCATCATG -3'
Sequencing Primer
(F):5'- GGGTTTTCACCTGATGTAAAC -3'
(R):5'- TGCTTTTACAAAGGACCCAGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation