Mutagenetix > Incidental Mutation

Incidental Mutation 'R6808:Mbip'

533663

Institutional Source

Beutler Lab

Gene Symbol

Mbip

Ensembl Gene

ENSMUSG00000021028

Gene Name

MAP3K12 binding inhibitory protein 1

Synonyms

4933408E06Rik

MMRRC Submission

044921-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R6808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56375091-56392681 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 56384383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021416 (fasta)

Gene Model

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

AlphaFold

Q99LQ1

Predicted Effect

probably null
Transcript: ENSMUST00000021416

SMART Domains

Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,098 (GRCm39)	I53F	probably damaging	Het
Apol7b	T	A	15: 77,308,873 (GRCm39)	D75V	probably damaging	Het
Brd8	C	T	18: 34,741,528 (GRCm39)	A387T	probably damaging	Het
Cacybp	T	C	1: 160,036,169 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,618,875 (GRCm39)	K444E	probably damaging	Het
Cers2	G	A	3: 95,228,320 (GRCm39)	R120H	probably benign	Het
Chd4	T	A	6: 125,099,086 (GRCm39)	C1587S	possibly damaging	Het
Col11a1	A	T	3: 113,888,593 (GRCm39)	K286N	possibly damaging	Het
Creld2	A	G	15: 88,709,413 (GRCm39)	N308S	probably damaging	Het
Cyp2d12	T	C	15: 82,440,934 (GRCm39)	S151P	probably damaging	Het
Dlec1	A	G	9: 118,955,242 (GRCm39)	H642R	probably benign	Het
Eif6	T	C	2: 155,665,206 (GRCm39)	Y151C	probably damaging	Het
Erbb4	A	T	1: 68,079,462 (GRCm39)	M1206K	probably benign	Het
Fam178b	G	A	1: 36,639,216 (GRCm39)	T361M	probably damaging	Het
Fbxo10	A	G	4: 45,059,035 (GRCm39)	F234S	probably benign	Het
Gcc2	A	T	10: 58,094,064 (GRCm39)	E13D	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gtf3c5	T	C	2: 28,460,499 (GRCm39)	K367E	probably damaging	Het
Ifi204	T	C	1: 173,589,269 (GRCm39)	E54G	probably benign	Het
Kalrn	A	T	16: 33,848,346 (GRCm39)	I492N	probably damaging	Het
Kifbp	T	C	10: 62,410,923 (GRCm39)	N140S	possibly damaging	Het
Map2k5	A	G	9: 63,229,528 (GRCm39)	Y168H	probably benign	Het
Mcmdc2	C	T	1: 10,004,242 (GRCm39)	T574I	probably damaging	Het
Or10a3b	T	C	7: 108,444,747 (GRCm39)	T157A	probably benign	Het
Or52j3	T	G	7: 102,836,511 (GRCm39)	D234E	probably benign	Het
Or5w22	A	T	2: 87,363,285 (GRCm39)	M303L	probably benign	Het
Or8d2	T	A	9: 38,760,085 (GRCm39)	I225N	probably damaging	Het
Or8g33	T	C	9: 39,337,836 (GRCm39)	Y177C	probably damaging	Het
Or9s27	A	T	1: 92,516,768 (GRCm39)	R239W	probably damaging	Het
Pdzd8	A	G	19: 59,287,957 (GRCm39)	*1148Q	probably null	Het
Phactr1	T	A	13: 43,286,445 (GRCm39)	I582N	probably damaging	Het
Phf20l1	T	G	15: 66,502,762 (GRCm39)	L714R	probably damaging	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rcor3	T	C	1: 191,822,179 (GRCm39)	E6G	possibly damaging	Het
Skic3	T	C	13: 76,333,298 (GRCm39)	S1516P	probably damaging	Het
Sptlc2	G	A	12: 87,397,069 (GRCm39)	T239I	possibly damaging	Het
Tmc1	A	T	19: 20,772,880 (GRCm39)	V707D	probably damaging	Het
Tmem63b	T	A	17: 45,971,734 (GRCm39)	E827V	probably benign	Het
Triml1	A	G	8: 43,594,258 (GRCm39)	S58P	probably damaging	Het
Zdbf2	A	G	1: 63,347,687 (GRCm39)	H2022R	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
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
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'- TCAGGTCTAGTCTGTGGTCC -3'
(R):5'- TGTGCAAGAACTGATGCTGTC -3'

Sequencing Primer
(F):5'- GTCTGTGGTCCATATGTATTCACAAC -3'
(R):5'- GCAAGAACTGATGCTGTCTTTACTC -3'

Posted On

2018-09-12