Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02043:Cmip'

184810

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) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

117983803-118186169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118172067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 467 (D467E)

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: D379E

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092795
Gene: ENSMUSG00000034390
AA Change: D379E

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 benign
Transcript: ENSMUST00000166750
AA Change: D467E

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130264
Gene: ENSMUSG00000034390
AA Change: D467E

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,496,102 (GRCm39)	T33A	probably benign	Het
Brd2	A	T	17: 34,331,590 (GRCm39)		probably benign	Het
Carmil1	T	C	13: 24,208,299 (GRCm39)		probably benign	Het
Cdh9	A	T	15: 16,856,318 (GRCm39)	D786V	probably damaging	Het
Cep128	A	C	12: 91,233,504 (GRCm39)		probably benign	Het
Cep85	T	C	4: 133,883,038 (GRCm39)	T284A	probably benign	Het
Chrna1	C	T	2: 73,398,450 (GRCm39)	E330K	probably benign	Het
Clec2l	T	C	6: 38,653,785 (GRCm39)	Y104H	probably damaging	Het
Clybl	G	T	14: 122,616,664 (GRCm39)	K226N	probably damaging	Het
Cpne3	A	T	4: 19,543,340 (GRCm39)		probably null	Het
Crisp4	A	G	1: 18,204,324 (GRCm39)	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,116,070 (GRCm39)	Y261H	probably damaging	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Czib	T	G	4: 107,752,065 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,560,626 (GRCm39)	T123A	probably benign	Het
Edem2	T	C	2: 155,547,661 (GRCm39)	T384A	probably damaging	Het
F8	C	T	X: 74,376,247 (GRCm39)	M377I	probably benign	Het
Fan1	T	A	7: 64,021,367 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Gm4841	A	C	18: 60,404,037 (GRCm39)	S19A	probably benign	Het
Gm4862	T	A	3: 138,834,396 (GRCm39)		noncoding transcript	Het
Hk3	T	A	13: 55,162,908 (GRCm39)	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,757,642 (GRCm39)	L56F	probably damaging	Het
Ldlr	A	G	9: 21,644,795 (GRCm39)	T108A	probably benign	Het
Lgr4	T	A	2: 109,841,635 (GRCm39)	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,587,537 (GRCm39)	N3906S	probably null	Het
Lrrtm4	A	G	6: 79,998,845 (GRCm39)	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,340,587 (GRCm39)	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,139,621 (GRCm39)		probably null	Het
Mvp	A	T	7: 126,592,790 (GRCm39)	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,404,776 (GRCm39)	S711P	probably benign	Het
Myom3	A	G	4: 135,497,986 (GRCm39)	K189E	probably damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Nlrp10	T	C	7: 108,524,709 (GRCm39)	E257G	probably damaging	Het
Nptn	T	G	9: 58,548,012 (GRCm39)	M139R	possibly damaging	Het
Nrk	T	G	X: 137,889,544 (GRCm39)	M1105R	possibly damaging	Het
Or10a3n	A	T	7: 108,493,046 (GRCm39)	C189*	probably null	Het
Or10d4	T	G	9: 39,580,374 (GRCm39)	V7G	probably damaging	Het
Or1q1	T	A	2: 36,887,477 (GRCm39)	Y218*	probably null	Het
Pcdhb16	A	G	18: 37,612,248 (GRCm39)	T403A	probably benign	Het
Pcyt1b	A	G	X: 92,745,722 (GRCm39)	E50G	possibly damaging	Het
Pigg	C	T	5: 108,492,190 (GRCm39)	T892I	probably damaging	Het
Ppig	T	G	2: 69,566,327 (GRCm39)		probably null	Het
Prr12	A	G	7: 44,699,429 (GRCm39)		probably benign	Het
Slc5a5	G	T	8: 71,345,073 (GRCm39)	A78E	possibly damaging	Het
Slc7a2	T	G	8: 41,364,095 (GRCm39)	M436R	probably benign	Het
Sp7	T	A	15: 102,267,690 (GRCm39)	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,068,556 (GRCm39)	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,681,371 (GRCm39)		probably benign	Het
Tmem63a	C	T	1: 180,800,353 (GRCm39)	T714I	probably benign	Het
Trank1	T	C	9: 111,193,028 (GRCm39)	L535P	probably damaging	Het
Tuba8	A	C	6: 121,197,470 (GRCm39)	N44T	probably benign	Het
Wnk1	A	G	6: 119,926,039 (GRCm39)		probably benign	Het
Zfp654	A	T	16: 64,605,391 (GRCm39)	I396K	probably benign	Het

Other mutations in Cmip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07