Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02627:Mbip'

301145

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 #

IGL02627

Quality Score

Status

Chromosome

Chromosomal Location

56375091-56392681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56382590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 292 (Q292R)

Ref Sequence

ENSEMBL: ENSMUSP00000021416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021416] [ENSMUST00000218118]

AlphaFold

Q99LQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000021416
AA Change: Q292R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028
AA Change: Q292R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218321

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,685,777 (GRCm39)	K353M	probably damaging	Het
Arhgap32	T	C	9: 32,157,302 (GRCm39)	Y100H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap418	G	A	4: 10,898,039 (GRCm39)	C207Y	probably damaging	Het
Ckap5	A	T	2: 91,406,366 (GRCm39)	N752I	probably damaging	Het
Dgkz	T	A	2: 91,769,055 (GRCm39)		probably benign	Het
Egfr	T	A	11: 16,819,346 (GRCm39)	V292E	probably damaging	Het
Gnb3	T	C	6: 124,811,678 (GRCm39)	T329A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,810 (GRCm39)	T40S	probably damaging	Het
Kcnq2	T	C	2: 180,724,120 (GRCm39)		probably benign	Het
Mgat5b	T	C	11: 116,874,442 (GRCm39)	Y625H	probably damaging	Het
Ms4a4d	A	T	19: 11,525,987 (GRCm39)	E40D	probably damaging	Het
Naip1	T	C	13: 100,562,156 (GRCm39)	E1003G	possibly damaging	Het
Ncf2	G	A	1: 152,686,759 (GRCm39)		probably benign	Het
Nfkbiz	A	G	16: 55,636,714 (GRCm39)	V529A	probably damaging	Het
Osr2	A	G	15: 35,300,600 (GRCm39)	N52S	possibly damaging	Het
Prag1	A	G	8: 36,606,593 (GRCm39)	D778G	possibly damaging	Het
Rsl1d1	G	T	16: 11,012,415 (GRCm39)	A337E	possibly damaging	Het
Sall3	A	T	18: 81,015,576 (GRCm39)	L784Q	possibly damaging	Het
Spen	A	G	4: 141,200,326 (GRCm39)	I2744T	probably damaging	Het
Tfip11	A	C	5: 112,477,679 (GRCm39)	S145R	possibly damaging	Het
Tonsl	T	C	15: 76,518,295 (GRCm39)	D559G	probably damaging	Het
Trmt5	A	T	12: 73,328,229 (GRCm39)	S325T	probably damaging	Het
Ubr1	A	T	2: 120,771,472 (GRCm39)	V472D	probably damaging	Het
Vmn1r30	T	A	6: 58,412,746 (GRCm39)	T29S	probably benign	Het
Vps29	T	C	5: 122,500,908 (GRCm39)	S158P	probably benign	Het
Wdr82	T	C	9: 106,053,886 (GRCm39)	V79A	possibly damaging	Het
Wfdc16	T	A	2: 164,480,383 (GRCm39)	E37D	possibly damaging	Het

Other mutations in Mbip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Mbip	APN	12	56,377,027 (GRCm39)	missense	probably benign	0.35
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

2015-04-16