Incidental Mutation 'IGL02126:Cmip'
| ID |
280875 |
| 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 # |
IGL02126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117983803-118186169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118175770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 423
(V423A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095172]
[ENSMUST00000166750]
|
| AlphaFold |
Q9D486 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095172
AA Change: V423A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092795
Gene: ENSMUSG00000034390
AA Change: V423A
| 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: V511A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130264
Gene: ENSMUSG00000034390
AA Change: V511A
| 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: ENSMUST00000183991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211913
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Angptl3 |
T |
C |
4: 98,919,738 (GRCm39) |
|
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,706,334 (GRCm39) |
W10R |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,544,154 (GRCm39) |
T317A |
probably damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,465,484 (GRCm39) |
W12R |
probably damaging |
Het |
| Celf1 |
T |
A |
2: 90,831,408 (GRCm39) |
L79H |
probably damaging |
Het |
| Ddr1 |
T |
A |
17: 35,999,481 (GRCm39) |
I431F |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,080,149 (GRCm39) |
L2343P |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,817 (GRCm39) |
D1446G |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,599 (GRCm39) |
H231R |
possibly damaging |
Het |
| Fam221b |
T |
A |
4: 43,666,450 (GRCm39) |
I54F |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,839,281 (GRCm39) |
V365M |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,394,839 (GRCm39) |
F69L |
possibly damaging |
Het |
| Gba2 |
T |
G |
4: 43,567,918 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
C |
A |
19: 46,240,556 (GRCm39) |
P46Q |
probably damaging |
Het |
| Gimap6 |
T |
G |
6: 48,679,635 (GRCm39) |
S134R |
probably damaging |
Het |
| Gm5424 |
A |
C |
10: 61,907,377 (GRCm39) |
|
noncoding transcript |
Het |
| Hexb |
T |
C |
13: 97,314,532 (GRCm39) |
K404E |
possibly damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,331 (GRCm39) |
V147M |
probably damaging |
Het |
| Hsd17b4 |
T |
C |
18: 50,315,063 (GRCm39) |
V610A |
probably benign |
Het |
| Loxl3 |
T |
A |
6: 83,025,628 (GRCm39) |
W329R |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,273,575 (GRCm39) |
F247S |
probably damaging |
Het |
| Naa38 |
C |
T |
11: 69,287,045 (GRCm39) |
R42W |
probably damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,357,753 (GRCm39) |
Q485* |
probably null |
Het |
| Nid1 |
A |
G |
13: 13,663,743 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
T |
C |
13: 40,362,251 (GRCm39) |
T224A |
probably benign |
Het |
| Or5m11b |
T |
G |
2: 85,806,517 (GRCm39) |
I310S |
probably benign |
Het |
| Palld |
A |
G |
8: 62,330,476 (GRCm39) |
Y134H |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pfn3 |
T |
C |
13: 55,562,699 (GRCm39) |
D94G |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,419 (GRCm39) |
R3630C |
probably damaging |
Het |
| Por |
T |
A |
5: 135,744,829 (GRCm39) |
F31I |
probably benign |
Het |
| Ppp1r12c |
T |
C |
7: 4,492,858 (GRCm39) |
E127G |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,229 (GRCm39) |
S1162T |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,057,488 (GRCm39) |
A297S |
probably benign |
Het |
| Rpusd2 |
G |
A |
2: 118,869,119 (GRCm39) |
R514Q |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,462,029 (GRCm39) |
M235V |
probably damaging |
Het |
| Sash1 |
T |
C |
10: 8,615,229 (GRCm39) |
M644V |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
| Slco1a7 |
T |
A |
6: 141,684,739 (GRCm39) |
T239S |
probably benign |
Het |
| Ssu72 |
T |
C |
4: 155,816,483 (GRCm39) |
I155T |
probably benign |
Het |
| Tas2r102 |
A |
G |
6: 132,739,607 (GRCm39) |
R172G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trav12-2 |
C |
A |
14: 53,853,859 (GRCm39) |
N2K |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,755,845 (GRCm39) |
Q205* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,180,052 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
G |
1: 187,995,588 (GRCm39) |
S120G |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,741,504 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
G |
T |
2: 29,994,928 (GRCm39) |
T489K |
probably benign |
Het |
| Zfp955b |
G |
T |
17: 33,521,238 (GRCm39) |
G236* |
probably null |
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 |
|
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 |
|
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 |
Incidental Mutation