Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01319:Mbip'

73981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbip

Ensembl Gene

ENSMUSG00000021028

Gene Name

MAP3K12 binding inhibitory protein 1

Synonyms

4933408E06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

56375091-56392681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56377027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 303 (V303A)

Ref Sequence

ENSEMBL: ENSMUSP00000021416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021416]

AlphaFold

Q99LQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000021416
AA Change: V303A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028
AA Change: V303A

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
coiled coil region	311	335	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,888,077 (GRCm39)	V307E	probably benign	Het
Bub1b	T	C	2: 118,445,475 (GRCm39)	I265T	possibly damaging	Het
Cemip2	C	T	19: 21,822,121 (GRCm39)	P1172L	possibly damaging	Het
Cntnap3	G	A	13: 64,935,651 (GRCm39)	T404I	probably damaging	Het
Disc1	T	C	8: 125,814,630 (GRCm39)	S165P	probably damaging	Het
Dock1	T	C	7: 134,391,007 (GRCm39)	F756L	probably benign	Het
Dock2	A	G	11: 34,589,617 (GRCm39)	V480A	possibly damaging	Het
Drc3	A	G	11: 60,255,788 (GRCm39)	D125G	probably null	Het
Emid1	C	T	11: 5,093,859 (GRCm39)	C96Y	probably damaging	Het
F13b	A	G	1: 139,434,531 (GRCm39)	N99S	probably damaging	Het
Fam20a	A	G	11: 109,569,284 (GRCm39)		probably benign	Het
Fancd2	C	A	6: 113,561,860 (GRCm39)	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,107,859 (GRCm39)	K172E	probably damaging	Het
Gm13941	T	C	2: 110,925,150 (GRCm39)		probably null	Het
Gtpbp4	A	T	13: 9,035,296 (GRCm39)	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,129,388 (GRCm39)	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,093,548 (GRCm39)	P23L	possibly damaging	Het
Kng2	T	A	16: 22,847,584 (GRCm39)	I26F	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Lrpprc	T	C	17: 85,012,840 (GRCm39)		probably benign	Het
Man2a2	C	T	7: 80,010,880 (GRCm39)	V704M	possibly damaging	Het
Mipep	A	T	14: 61,080,720 (GRCm39)	M571L	probably benign	Het
Ncan	A	T	8: 70,550,212 (GRCm39)	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,441,566 (GRCm39)	V292A	probably benign	Het
Pkd1	T	C	17: 24,806,893 (GRCm39)		probably benign	Het
Ppp2r2c	T	A	5: 37,104,465 (GRCm39)	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,596,245 (GRCm39)	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326 (GRCm39)	D443E	probably damaging	Het
Rptor	A	G	11: 119,781,996 (GRCm39)	M1108V	probably benign	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Sesn2	C	T	4: 132,227,278 (GRCm39)		probably benign	Het
Shank1	C	A	7: 44,002,547 (GRCm39)	A1422E	possibly damaging	Het
Skic3	A	G	13: 76,277,498 (GRCm39)	H491R	probably benign	Het
Slc13a4	C	T	6: 35,284,288 (GRCm39)		probably null	Het
Snrnp200	T	C	2: 127,072,047 (GRCm39)		probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tbxas1	A	G	6: 38,994,907 (GRCm39)	I178V	probably benign	Het
Triml1	A	G	8: 43,594,434 (GRCm39)		probably benign	Het
Tsen2	A	T	6: 115,553,945 (GRCm39)	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,492 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,711,648 (GRCm39)		probably benign	Het
Vsig10l	C	T	7: 43,114,678 (GRCm39)	S293L	probably damaging	Het
Zcchc13	C	A	X: 102,674,606 (GRCm39)	Q110K	possibly damaging	Het

Other mutations in Mbip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02627:Mbip	APN	12	56,382,590 (GRCm39)	missense	probably benign	0.06
IGL03244:Mbip	APN	12	56,384,547 (GRCm39)	critical splice donor site	probably null
IGL03387:Mbip	APN	12	56,382,597 (GRCm39)	missense	probably damaging	1.00
R0891:Mbip	UTSW	12	56,387,242 (GRCm39)	missense	possibly damaging	0.93
R3119:Mbip	UTSW	12	56,392,488 (GRCm39)	missense	probably benign	0.00
R5254:Mbip	UTSW	12	56,384,228 (GRCm39)	missense	probably damaging	0.99
R5584:Mbip	UTSW	12	56,382,647 (GRCm39)	missense	probably damaging	1.00
R5853:Mbip	UTSW	12	56,382,662 (GRCm39)	missense	probably damaging	1.00
R6642:Mbip	UTSW	12	56,389,191 (GRCm39)	intron	probably benign
R6808:Mbip	UTSW	12	56,384,383 (GRCm39)	splice site	probably null
R7231:Mbip	UTSW	12	56,384,547 (GRCm39)	critical splice donor site	probably null
R7716:Mbip	UTSW	12	56,392,473 (GRCm39)	missense	probably benign	0.00
R8472:Mbip	UTSW	12	56,377,054 (GRCm39)	critical splice acceptor site	probably null
Z1176:Mbip	UTSW	12	56,387,170 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-10-07