Incidental Mutation 'IGL02205:Cmip'
ID |
284434 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cmip
|
Ensembl Gene |
ENSMUSG00000034390 |
Gene Name |
c-Maf inducing protein |
Synonyms |
5830471E12Rik, 4933407C03Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02205
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
117983803-118186169 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118181714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 674
(V674I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095172]
[ENSMUST00000166750]
|
AlphaFold |
Q9D486 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095172
AA Change: V586I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092795 Gene: ENSMUSG00000034390 AA Change: V586I
Domain | Start | End | E-Value | Type |
Blast:PH
|
13 |
70 |
5e-33 |
BLAST |
low complexity region
|
71 |
79 |
N/A |
INTRINSIC |
low complexity region
|
306 |
319 |
N/A |
INTRINSIC |
SCOP:d1a9na_
|
564 |
681 |
6e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166750
AA Change: V674I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130264 Gene: ENSMUSG00000034390 AA Change: V674I
Domain | Start | End | E-Value | Type |
PH
|
54 |
163 |
2.71e-1 |
SMART |
low complexity region
|
394 |
407 |
N/A |
INTRINSIC |
SCOP:d1a9na_
|
652 |
769 |
6e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183991
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212884
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
Other mutations in Cmip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02043:Cmip
|
APN |
8 |
118,172,067 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02126:Cmip
|
APN |
8 |
118,175,770 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02352:Cmip
|
APN |
8 |
118,137,994 (GRCm39) |
splice site |
probably benign |
|
IGL02359:Cmip
|
APN |
8 |
118,137,994 (GRCm39) |
splice site |
probably benign |
|
IGL02558:Cmip
|
APN |
8 |
118,175,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R0070:Cmip
|
UTSW |
8 |
118,153,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R0335:Cmip
|
UTSW |
8 |
118,172,105 (GRCm39) |
missense |
probably damaging |
0.99 |
R1225:Cmip
|
UTSW |
8 |
118,172,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R1561:Cmip
|
UTSW |
8 |
118,180,589 (GRCm39) |
missense |
probably benign |
0.41 |
R2508:Cmip
|
UTSW |
8 |
118,163,432 (GRCm39) |
missense |
probably benign |
|
R2885:Cmip
|
UTSW |
8 |
118,111,704 (GRCm39) |
missense |
probably benign |
0.01 |
R3415:Cmip
|
UTSW |
8 |
118,076,116 (GRCm39) |
critical splice donor site |
probably null |
|
R4024:Cmip
|
UTSW |
8 |
118,174,155 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4168:Cmip
|
UTSW |
8 |
118,183,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R4169:Cmip
|
UTSW |
8 |
118,183,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R4632:Cmip
|
UTSW |
8 |
118,174,150 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4706:Cmip
|
UTSW |
8 |
118,103,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R4924:Cmip
|
UTSW |
8 |
117,983,994 (GRCm39) |
missense |
probably benign |
0.00 |
R5380:Cmip
|
UTSW |
8 |
118,149,629 (GRCm39) |
missense |
probably damaging |
0.99 |
R5927:Cmip
|
UTSW |
8 |
117,984,048 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6212:Cmip
|
UTSW |
8 |
118,103,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R6310:Cmip
|
UTSW |
8 |
118,156,549 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6747:Cmip
|
UTSW |
8 |
118,163,618 (GRCm39) |
missense |
probably benign |
0.02 |
R6881:Cmip
|
UTSW |
8 |
118,163,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6968:Cmip
|
UTSW |
8 |
118,103,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7003:Cmip
|
UTSW |
8 |
118,111,727 (GRCm39) |
missense |
probably benign |
0.13 |
R7400:Cmip
|
UTSW |
8 |
117,984,144 (GRCm39) |
splice site |
probably null |
|
R7583:Cmip
|
UTSW |
8 |
118,181,691 (GRCm39) |
missense |
probably damaging |
0.96 |
R8367:Cmip
|
UTSW |
8 |
118,163,610 (GRCm39) |
missense |
probably benign |
0.05 |
R8720:Cmip
|
UTSW |
8 |
118,138,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Cmip
|
UTSW |
8 |
118,138,094 (GRCm39) |
missense |
probably benign |
0.23 |
R8873:Cmip
|
UTSW |
8 |
118,103,929 (GRCm39) |
missense |
probably damaging |
0.96 |
R8902:Cmip
|
UTSW |
8 |
118,103,925 (GRCm39) |
missense |
probably damaging |
0.98 |
R8959:Cmip
|
UTSW |
8 |
118,138,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |