Mutagenetix > Incidental Mutation

Incidental Mutation 'R0891:Mbip'

83509

Institutional Source

Beutler Lab

Gene Symbol

Mbip

Ensembl Gene

ENSMUSG00000021028

Gene Name

MAP3K12 binding inhibitory protein 1

Synonyms

4933408E06Rik

MMRRC Submission

039054-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R0891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56375091-56392681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56387242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 132 (D132E)

Ref Sequence

ENSEMBL: ENSMUSP00000021416 (fasta)

Gene Model

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

AlphaFold

Q99LQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021416
AA Change: D132E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028
AA Change: D132E

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

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 96.7%
20x: 92.2%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,156 (GRCm39)	N567K	possibly damaging	Het
Afap1	G	A	5: 36,119,196 (GRCm39)		probably null	Het
Angel2	G	T	1: 190,677,270 (GRCm39)	K517N	possibly damaging	Het
Ankrd36	A	G	11: 5,637,316 (GRCm39)	E1295G	possibly damaging	Het
Ankrd45	A	G	1: 160,982,906 (GRCm39)	N139S	possibly damaging	Het
Ano3	T	C	2: 110,528,321 (GRCm39)	T498A	probably benign	Het
Arhgap12	T	C	18: 6,026,699 (GRCm39)	T720A	probably damaging	Het
Brd10	G	A	19: 29,695,053 (GRCm39)	T1547I	probably damaging	Het
Brsk1	A	G	7: 4,707,226 (GRCm39)	S260G	possibly damaging	Het
Calml3	A	G	13: 3,853,926 (GRCm39)	F93S	probably damaging	Het
Ccnf	G	T	17: 24,445,751 (GRCm39)	H498Q	possibly damaging	Het
Col27a1	A	C	4: 63,223,420 (GRCm39)		probably null	Het
Cpne5	A	G	17: 29,421,893 (GRCm39)		probably benign	Het
Dcst1	G	A	3: 89,260,584 (GRCm39)	T560I	probably benign	Het
Fndc7	A	G	3: 108,777,904 (GRCm39)	Y351H	possibly damaging	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Kcnh8	A	T	17: 53,212,242 (GRCm39)	D680V	probably damaging	Het
Kmt2d	A	G	15: 98,750,572 (GRCm39)		probably benign	Het
Lrrfip1	T	A	1: 90,996,337 (GRCm39)	I50N	probably damaging	Het
Nipal3	A	T	4: 135,195,898 (GRCm39)	I235N	possibly damaging	Het
Nup93	T	A	8: 95,007,891 (GRCm39)		probably benign	Het
Or6b13	A	G	7: 139,782,372 (GRCm39)	Y104H	probably damaging	Het
Or6z6	T	A	7: 6,491,471 (GRCm39)	Y134F	probably damaging	Het
Pgbd1	T	C	13: 21,606,970 (GRCm39)	Y408C	probably damaging	Het
Pigo	G	A	4: 43,020,519 (GRCm39)	Q808*	probably null	Het
Pik3r1	A	T	13: 101,837,974 (GRCm39)	N299K	probably benign	Het
Pip5k1a	A	G	3: 94,972,831 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,585,442 (GRCm39)	H156L	possibly damaging	Het
Septin5	G	C	16: 18,443,595 (GRCm39)	T118R	probably damaging	Het
Smarcal1	T	C	1: 72,638,015 (GRCm39)	V483A	probably damaging	Het
Togaram1	A	G	12: 65,029,421 (GRCm39)	D948G	probably benign	Het
Vmn2r75	A	T	7: 85,813,476 (GRCm39)	V442E	possibly damaging	Het
Zfp57	A	G	17: 37,317,068 (GRCm39)	K46E	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAGGAGAAAACTGCTCCCTTGTG -3'
(R):5'- ACAGATGTAACTGTGTTCTTTCCAGCC -3'

Sequencing Primer
(F):5'- GTTTGGCAACAGAGCCCATTAC -3'
(R):5'- CCAGCCTTTTTTAGCAAAACTTCAG -3'

Posted On

2013-11-08