Incidental Mutation 'R6310:Cmip'
ID |
509543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmip
|
Ensembl Gene |
ENSMUSG00000034390 |
Gene Name |
c-Maf inducing protein |
Synonyms |
5830471E12Rik, 4933407C03Rik |
MMRRC Submission |
044414-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6310 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
117983803-118186169 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118156549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 308
(I308T)
|
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: I220T
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000092795 Gene: ENSMUSG00000034390 AA Change: I220T
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 |
possibly damaging
Transcript: ENSMUST00000166750
AA Change: I308T
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130264 Gene: ENSMUSG00000034390 AA Change: I308T
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: ENSMUST00000211913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212884
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
C |
G |
11: 100,373,046 (GRCm39) |
G856A |
possibly damaging |
Het |
Adgrb3 |
T |
A |
1: 25,150,799 (GRCm39) |
M1145L |
probably benign |
Het |
Akap13 |
A |
T |
7: 75,398,941 (GRCm39) |
H2673L |
probably damaging |
Het |
Bmpr1b |
A |
G |
3: 141,570,297 (GRCm39) |
S131P |
probably damaging |
Het |
Cep72 |
A |
C |
13: 74,201,144 (GRCm39) |
S175A |
possibly damaging |
Het |
Chd2 |
C |
T |
7: 73,102,912 (GRCm39) |
E1358K |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,182,140 (GRCm39) |
N118I |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,304,018 (GRCm39) |
G1265D |
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
Dhx58 |
T |
C |
11: 100,590,193 (GRCm39) |
S364G |
probably benign |
Het |
Dis3l |
A |
C |
9: 64,229,857 (GRCm39) |
V274G |
probably benign |
Het |
Fryl |
A |
T |
5: 73,349,104 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,268,444 (GRCm39) |
H1272R |
probably damaging |
Het |
Gjb3 |
A |
G |
4: 127,220,433 (GRCm39) |
V33A |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm9964 |
T |
C |
11: 79,187,476 (GRCm39) |
|
probably benign |
Het |
Grk5 |
T |
C |
19: 61,069,349 (GRCm39) |
I342T |
probably damaging |
Het |
Hnf1b |
T |
A |
11: 83,795,737 (GRCm39) |
C527S |
probably damaging |
Het |
Hoxd4 |
G |
T |
2: 74,558,734 (GRCm39) |
A186S |
possibly damaging |
Het |
Ighv1-78 |
G |
A |
12: 115,832,584 (GRCm39) |
H54Y |
probably benign |
Het |
Intu |
T |
A |
3: 40,655,721 (GRCm39) |
L936* |
probably null |
Het |
Kcp |
G |
A |
6: 29,493,257 (GRCm39) |
R89W |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,704,435 (GRCm39) |
T779A |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,553,246 (GRCm39) |
P4349L |
probably benign |
Het |
Nedd9 |
T |
C |
13: 41,471,928 (GRCm39) |
T178A |
probably benign |
Het |
Nuak2 |
G |
T |
1: 132,257,699 (GRCm39) |
A204S |
probably damaging |
Het |
Or51f1 |
T |
A |
7: 102,506,412 (GRCm39) |
I26F |
probably benign |
Het |
Or6c214 |
T |
C |
10: 129,590,528 (GRCm39) |
R264G |
probably benign |
Het |
Pcdhac2 |
C |
A |
18: 37,278,824 (GRCm39) |
Y601* |
probably null |
Het |
Pla2g4a |
T |
A |
1: 149,717,977 (GRCm39) |
D624V |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,938,796 (GRCm39) |
V1386A |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,953,697 (GRCm39) |
L623F |
possibly damaging |
Het |
Pms2 |
T |
A |
5: 143,860,401 (GRCm39) |
S71R |
probably benign |
Het |
Prkg1 |
T |
C |
19: 30,546,651 (GRCm39) |
D683G |
probably damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,801,204 (GRCm39) |
Y45N |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,933,459 (GRCm39) |
I233M |
probably benign |
Het |
Sema3a |
G |
A |
5: 13,606,986 (GRCm39) |
G274S |
probably damaging |
Het |
Sesn1 |
T |
C |
10: 41,772,074 (GRCm39) |
L201P |
probably damaging |
Het |
Setx |
G |
A |
2: 29,066,947 (GRCm39) |
V2363I |
possibly damaging |
Het |
Sh3glb1 |
A |
G |
3: 144,403,228 (GRCm39) |
S81P |
probably damaging |
Het |
Sik3 |
A |
G |
9: 46,089,784 (GRCm39) |
S218G |
probably damaging |
Het |
Slc12a2 |
C |
G |
18: 58,048,578 (GRCm39) |
F781L |
probably damaging |
Het |
Slc12a6 |
A |
T |
2: 112,166,184 (GRCm39) |
I188F |
probably damaging |
Het |
Slc34a2 |
A |
G |
5: 53,222,139 (GRCm39) |
|
probably null |
Het |
Slc35f4 |
A |
G |
14: 49,559,914 (GRCm39) |
C44R |
probably damaging |
Het |
Sytl1 |
G |
A |
4: 132,988,309 (GRCm39) |
P16S |
probably benign |
Het |
Taok3 |
C |
T |
5: 117,394,003 (GRCm39) |
T592M |
possibly damaging |
Het |
Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
Txk |
T |
C |
5: 72,893,760 (GRCm39) |
S7G |
probably benign |
Het |
Utp4 |
T |
C |
8: 107,645,253 (GRCm39) |
V550A |
probably benign |
Het |
Vmn1r229 |
G |
A |
17: 21,034,976 (GRCm39) |
D74N |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,844,212 (GRCm39) |
D25G |
possibly damaging |
Het |
Zfp646 |
T |
C |
7: 127,483,079 (GRCm39) |
V1752A |
probably benign |
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 |
IGL02205:Cmip
|
APN |
8 |
118,181,714 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGCATCATTTAAGGTGTGAG -3'
(R):5'- ACGCTAAGGGCTCCTTCATG -3'
Sequencing Primer
(F):5'- AGTTCGTGCGTGATGTCTCCC -3'
(R):5'- CCATCTCACAGGGATATCAGAGG -3'
|
Posted On |
2018-04-02 |