Incidental Mutation 'R6881:Cmip'
ID |
536669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmip
|
Ensembl Gene |
ENSMUSG00000034390 |
Gene Name |
c-Maf inducing protein |
Synonyms |
5830471E12Rik, 4933407C03Rik |
MMRRC Submission |
045030-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6881 (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 118163334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 355
(I355T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095172]
[ENSMUST00000166750]
|
AlphaFold |
Q9D486 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095172
AA Change: I267T
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092795 Gene: ENSMUSG00000034390 AA Change: I267T
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: I355T
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130264 Gene: ENSMUSG00000034390 AA Change: I355T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
98% (53/54) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,813,483 (GRCm39) |
E1321G |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,312,480 (GRCm39) |
I318V |
probably damaging |
Het |
Clrn2 |
G |
A |
5: 45,611,164 (GRCm39) |
W4* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lamp3 |
T |
C |
16: 19,518,368 (GRCm39) |
T290A |
probably benign |
Het |
Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
Radil |
A |
G |
5: 142,472,672 (GRCm39) |
S913P |
probably benign |
Het |
Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
Slc8a2 |
G |
A |
7: 15,891,282 (GRCm39) |
G774E |
probably damaging |
Het |
Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
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 |
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 |
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'- TCTCACCAATGGCCTTCTGG -3'
(R):5'- TCAATAAGGTTGGGCTCGCTG -3'
Sequencing Primer
(F):5'- TTGCTGTTCTGAGACAAGAGACCC -3'
(R):5'- CTGTCGTTGCCCGTGCTG -3'
|
Posted On |
2018-10-18 |