Incidental Mutation 'R6212:Cmip'
| ID |
503512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmip
|
| Ensembl Gene |
ENSMUSG00000034390 |
| Gene Name |
c-Maf inducing protein |
| Synonyms |
5830471E12Rik, 4933407C03Rik |
| MMRRC Submission |
044345-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117983803-118186169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118103895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 128
(Y128H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095172]
[ENSMUST00000166750]
|
| AlphaFold |
Q9D486 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095172
AA Change: Y40H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092795
Gene: ENSMUSG00000034390
AA Change: Y40H
| 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: Y128H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130264
Gene: ENSMUSG00000034390
AA Change: Y128H
| 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
|
| Meta Mutation Damage Score |
0.1057 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,172,505 (GRCm39) |
I116N |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,630,207 (GRCm39) |
H821N |
unknown |
Het |
| Apex1 |
C |
T |
14: 51,164,350 (GRCm39) |
P264S |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,251,698 (GRCm39) |
Y10C |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,359,278 (GRCm39) |
T208A |
probably benign |
Het |
| Brd4 |
G |
T |
17: 32,421,423 (GRCm39) |
P771Q |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,307,667 (GRCm39) |
S69G |
probably benign |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,800,888 (GRCm39) |
H2519R |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,439,155 (GRCm39) |
N48I |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,353,255 (GRCm39) |
P2803S |
probably damaging |
Het |
| Dusp26 |
G |
A |
8: 31,584,252 (GRCm39) |
D120N |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,719 (GRCm39) |
H160R |
possibly damaging |
Het |
| Erg |
C |
T |
16: 95,180,022 (GRCm39) |
V215I |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,681,189 (GRCm39) |
D124G |
probably damaging |
Het |
| Gapdh |
T |
C |
6: 125,139,661 (GRCm39) |
H203R |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,319,373 (GRCm39) |
L59P |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,503 (GRCm39) |
M42V |
possibly damaging |
Het |
| Hk2 |
C |
A |
6: 82,705,823 (GRCm39) |
A827S |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,694 (GRCm39) |
E227G |
probably damaging |
Het |
| Itgax |
C |
A |
7: 127,729,504 (GRCm39) |
H31N |
possibly damaging |
Het |
| Itgax |
A |
G |
7: 127,747,025 (GRCm39) |
D942G |
probably benign |
Het |
| Kars1 |
A |
T |
8: 112,726,829 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
C |
18: 12,646,702 (GRCm39) |
F1739L |
probably damaging |
Het |
| Map2k1 |
A |
T |
9: 64,112,445 (GRCm39) |
L155Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,067,431 (GRCm39) |
D1013V |
probably damaging |
Het |
| Mocs1 |
G |
A |
17: 49,742,224 (GRCm39) |
G118S |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,229,650 (GRCm39) |
S37P |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,673,553 (GRCm39) |
|
probably null |
Het |
| Nodal |
C |
T |
10: 61,259,300 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 73,421,950 (GRCm39) |
V999M |
possibly damaging |
Het |
| Oaz3 |
T |
A |
3: 94,342,375 (GRCm39) |
T139S |
probably benign |
Het |
| Or6z6 |
T |
C |
7: 6,491,367 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
A |
G |
9: 19,694,585 (GRCm39) |
D52G |
probably damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,606 (GRCm39) |
T522S |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,554,052 (GRCm39) |
F457S |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,866,729 (GRCm39) |
Y530H |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,270,070 (GRCm39) |
C31S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,220 (GRCm39) |
N24Y |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,709,452 (GRCm39) |
V937A |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,734,830 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,148,861 (GRCm39) |
N2027K |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,884,664 (GRCm39) |
Y565H |
probably benign |
Het |
| Tmem262 |
A |
G |
19: 6,130,668 (GRCm39) |
E62G |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,742,965 (GRCm39) |
|
probably null |
Het |
| Txlnb |
T |
C |
10: 17,675,057 (GRCm39) |
I70T |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,412,923 (GRCm39) |
L25* |
probably null |
Het |
| Zfp326 |
T |
A |
5: 106,058,097 (GRCm39) |
V412E |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,661 (GRCm39) |
R779G |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTAGGTGTGGAATGAATTCC -3'
(R):5'- TCCCGAGAGTCTTTAATACCTTCG -3'
Sequencing Primer
(F):5'- ATGCTGGCAGCCAAGAGC -3'
(R):5'- CGTGACTTTTAAGTTGACCAAAGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation