Mutagenetix > Incidental Mutation

Incidental Mutation 'R6642:Mbip'

543605

Institutional Source

Beutler Lab

Gene Symbol

Mbip

Ensembl Gene

ENSMUSG00000021028

Gene Name

MAP3K12 binding inhibitory protein 1

Synonyms

4933408E06Rik

MMRRC Submission

044763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R6642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56375091-56392681 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 56389191 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 benign
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

unknown
Transcript: ENSMUST00000218118
AA Change: Y45N

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,282,790 (GRCm39)	V215D	probably damaging	Het
Ablim1	A	G	19: 57,119,284 (GRCm39)	S267P	probably benign	Het
Adcy2	C	T	13: 68,768,945 (GRCm39)	C1061Y	probably damaging	Het
Aip	C	A	19: 4,165,149 (GRCm39)	C240F	probably damaging	Het
Aldh1a2	A	T	9: 71,160,268 (GRCm39)	D98V	probably damaging	Het
Arhgef40	T	C	14: 52,228,419 (GRCm39)		probably benign	Het
Cplx2	G	T	13: 54,526,736 (GRCm39)	R48L	probably damaging	Het
Ctrl	C	T	8: 106,659,451 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,006 (GRCm39)	T2720A	probably benign	Het
Fzd1	A	G	5: 4,805,696 (GRCm39)	Y629H	probably damaging	Het
Gins1	T	C	2: 150,770,038 (GRCm39)		probably null	Het
Gpr149	C	T	3: 62,437,995 (GRCm39)	A721T	probably damaging	Het
Helb	A	T	10: 119,920,835 (GRCm39)	M1036K	probably benign	Het
Il16	A	G	7: 83,337,335 (GRCm39)	F127L	probably benign	Het
Kctd20	A	T	17: 29,180,640 (GRCm39)	H138L	probably damaging	Het
Kctd9	T	A	14: 67,962,122 (GRCm39)	L55*	probably null	Het
Marf1	C	T	16: 13,950,611 (GRCm39)	R925H	probably benign	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nod1	T	G	6: 54,925,014 (GRCm39)	D99A	probably damaging	Het
Olfm4	A	G	14: 80,259,107 (GRCm39)	K419E	probably damaging	Het
Or6c214	A	T	10: 129,591,232 (GRCm39)	L29Q	probably damaging	Het
Pik3r4	A	G	9: 105,521,845 (GRCm39)	D137G	probably benign	Het
Prdm4	T	C	10: 85,743,682 (GRCm39)	E191G	probably benign	Het
Rassf10	A	T	7: 112,554,784 (GRCm39)	T462S	probably benign	Het
Rundc3b	A	T	5: 8,629,071 (GRCm39)	I110N	probably damaging	Het
Sgsm3	C	T	15: 80,893,901 (GRCm39)	R479C	probably damaging	Het
Tmc7	A	T	7: 118,144,834 (GRCm39)	Y575*	probably null	Het
Trim33	T	C	3: 103,244,830 (GRCm39)	L310S	probably damaging	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Ttn	T	C	2: 76,565,740 (GRCm39)	E28204G	probably damaging	Het
Vmn1r233	A	T	17: 21,214,002 (GRCm39)	L316Q	probably damaging	Het
Vmn2r110	A	T	17: 20,803,779 (GRCm39)	N265K	possibly damaging	Het
Xylb	A	G	9: 119,196,559 (GRCm39)	H114R	probably damaging	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	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
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
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'- CGATCACTAGTGAAATTAACAGACC -3'
(R):5'- TCAAAGATGGCCCCAGGAAC -3'

Sequencing Primer
(F):5'- CTGTTAACAGAATGTTGAGGTAGAAC -3'
(R):5'- ATGGCAACTGGGTAAAGC -3'

Posted On

2019-03-29