Mutagenetix > Incidental Mutation

Incidental Mutation 'R5773:Rbm12b1'

445488

Institutional Source

Beutler Lab

Gene Symbol

Rbm12b1

Ensembl Gene

ENSMUSG00000046667

Gene Name

RNA binding motif protein 12 B1

Synonyms

Rbm12b, 3000004N20Rik

MMRRC Submission

043372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12140264-12146731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12145765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 579 (E579V)

Ref Sequence

ENSEMBL: ENSMUSP00000064195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050069] [ENSMUST00000069128]

AlphaFold

Q80YR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050069
AA Change: E579V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053555
Gene: ENSMUSG00000046667
AA Change: E579V

Domain	Start	End	E-Value	Type
RRM	4	72	2.1e-1	SMART
low complexity region	115	125	N/A	INTRINSIC
RRM	155	225	5.59e-4	SMART
RRM	284	355	4.87e-4	SMART
RRM	402	474	2.28e-9	SMART
RRM	761	834	1.51e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069128
AA Change: E579V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064195
Gene: ENSMUSG00000046667
AA Change: E579V

Domain	Start	End	E-Value	Type
RRM	4	72	2.1e-1	SMART
low complexity region	115	125	N/A	INTRINSIC
RRM	155	225	5.59e-4	SMART
RRM	284	355	4.87e-4	SMART
RRM	402	474	2.28e-9	SMART
RRM	761	834	1.51e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146416

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,614 (GRCm39)		probably null	Het
Akna	C	T	4: 63,313,307 (GRCm39)	S272N	probably benign	Het
Ap2m1	T	C	16: 20,362,140 (GRCm39)	V416A	probably damaging	Het
Atp7b	A	G	8: 22,517,879 (GRCm39)	F320L	probably benign	Het
Brd1	T	C	15: 88,573,752 (GRCm39)	K1116E	probably benign	Het
Ccdc186	T	C	19: 56,801,919 (GRCm39)	D66G	probably benign	Het
Cdh4	A	G	2: 179,527,789 (GRCm39)	Y503C	probably damaging	Het
Cfb	C	A	17: 35,076,248 (GRCm39)	E166*	probably null	Het
Cmtm1	A	T	8: 105,031,808 (GRCm39)	F90I	probably damaging	Het
Col1a1	A	T	11: 94,830,255 (GRCm39)	K160N	probably benign	Het
Cradd	T	C	10: 95,011,823 (GRCm39)	I106V	probably benign	Het
Defa17	A	G	8: 22,146,574 (GRCm39)	R67G	probably damaging	Het
Dgkh	T	C	14: 78,832,895 (GRCm39)	N765S	probably damaging	Het
Dock5	A	G	14: 68,033,507 (GRCm39)	V954A	possibly damaging	Het
Eif2d	A	G	1: 131,086,040 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,004,040 (GRCm39)	F683I	probably damaging	Het
Fhad1	T	G	4: 141,656,881 (GRCm39)	K91T	probably damaging	Het
Fut11	A	T	14: 20,748,383 (GRCm39)	D476V	probably damaging	Het
Gldn	T	C	9: 54,241,775 (GRCm39)		probably null	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gm8674	T	A	13: 50,055,912 (GRCm39)		noncoding transcript	Het
Gtpbp6	C	A	5: 110,254,757 (GRCm39)	E168D	possibly damaging	Het
Hinfp	T	A	9: 44,210,533 (GRCm39)	H163L	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Ing3	T	A	6: 21,971,834 (GRCm39)	C368S	probably damaging	Het
Itih1	A	G	14: 30,657,356 (GRCm39)	V489A	possibly damaging	Het
Itsn2	T	C	12: 4,757,089 (GRCm39)	L1393P	probably damaging	Het
Kcnj13	T	C	1: 87,314,389 (GRCm39)	T278A	probably damaging	Het
Kntc1	G	A	5: 123,932,220 (GRCm39)	R1338Q	probably damaging	Het
Lipi	T	A	16: 75,370,813 (GRCm39)	T135S	probably damaging	Het
Map7	A	G	10: 20,122,390 (GRCm39)	K152R	probably benign	Het
Mmp24	A	G	2: 155,641,829 (GRCm39)	Y219C	probably damaging	Het
Nup188	T	C	2: 30,212,208 (GRCm39)	V565A	possibly damaging	Het
Nup210	T	C	6: 91,062,865 (GRCm39)	K265E	probably damaging	Het
Or10ak9	A	G	4: 118,726,718 (GRCm39)	T247A	probably damaging	Het
Pcdha6	A	T	18: 37,102,643 (GRCm39)	H612L	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pld2	G	T	11: 70,446,758 (GRCm39)	S778I	probably damaging	Het
Ppef2	A	C	5: 92,398,420 (GRCm39)	Y33D	probably damaging	Het
Ppfibp2	A	T	7: 107,285,079 (GRCm39)	T129S	possibly damaging	Het
Prickle1	G	T	15: 93,406,478 (GRCm39)	H182N	probably damaging	Het
R3hdm2	T	A	10: 127,280,172 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCGGCGGCTGC	7: 97,229,140 (GRCm39)		probably benign	Het
Slc1a6	T	G	10: 78,629,111 (GRCm39)		probably null	Het
Slc27a6	G	T	18: 58,715,245 (GRCm39)	A283S	probably damaging	Het
Spats2l	T	A	1: 57,918,708 (GRCm39)	N27K	possibly damaging	Het
Srgap1	T	C	10: 121,732,614 (GRCm39)	M155V	probably benign	Het
Stxbp5l	C	A	16: 37,028,459 (GRCm39)	A535S	probably damaging	Het
Svep1	C	A	4: 58,099,985 (GRCm39)	C1353F	possibly damaging	Het
Taar4	T	A	10: 23,837,056 (GRCm39)	I222N	probably damaging	Het
Tlr6	A	G	5: 65,111,846 (GRCm39)	F354L	probably benign	Het
Trp53bp1	A	G	2: 121,074,395 (GRCm39)	S452P	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,699,467 (GRCm39)	M1264K	probably benign	Het
Zfp865	A	T	7: 5,037,693 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,334,511 (GRCm39)	L169Q	probably damaging	Het
Zmym4	A	T	4: 126,799,163 (GRCm39)	N383K	possibly damaging	Het

Other mutations in Rbm12b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Rbm12b1	APN	4	12,146,038 (GRCm39)	missense	probably damaging	0.99
IGL02103:Rbm12b1	APN	4	12,145,563 (GRCm39)	missense	probably damaging	0.99
IGL03165:Rbm12b1	APN	4	12,145,845 (GRCm39)	missense	possibly damaging	0.94
PIT4618001:Rbm12b1	UTSW	4	12,145,441 (GRCm39)	missense	probably damaging	1.00
R0449:Rbm12b1	UTSW	4	12,145,507 (GRCm39)	missense	probably benign	0.00
R0528:Rbm12b1	UTSW	4	12,145,657 (GRCm39)	missense	probably benign	0.00
R0571:Rbm12b1	UTSW	4	12,146,248 (GRCm39)	missense	probably benign	0.00
R1476:Rbm12b1	UTSW	4	12,145,817 (GRCm39)	missense	possibly damaging	0.74
R1709:Rbm12b1	UTSW	4	12,145,827 (GRCm39)	missense	probably benign	0.00
R1759:Rbm12b1	UTSW	4	12,145,424 (GRCm39)	missense	probably damaging	1.00
R1967:Rbm12b1	UTSW	4	12,146,304 (GRCm39)	missense	probably benign	0.00
R2055:Rbm12b1	UTSW	4	12,145,606 (GRCm39)	missense	probably benign	0.05
R2425:Rbm12b1	UTSW	4	12,146,443 (GRCm39)	missense	probably damaging	0.99
R4015:Rbm12b1	UTSW	4	12,145,491 (GRCm39)	missense	probably benign	0.04
R4332:Rbm12b1	UTSW	4	12,145,655 (GRCm39)	missense	probably benign	0.02
R6497:Rbm12b1	UTSW	4	12,146,431 (GRCm39)	missense	probably benign	0.00
R7740:Rbm12b1	UTSW	4	12,145,954 (GRCm39)	missense	probably benign	0.00
R7761:Rbm12b1	UTSW	4	12,146,460 (GRCm39)	missense	possibly damaging	0.92
R8083:Rbm12b1	UTSW	4	12,146,409 (GRCm39)	missense	probably damaging	1.00
R8129:Rbm12b1	UTSW	4	12,145,549 (GRCm39)	missense	probably damaging	1.00
R8389:Rbm12b1	UTSW	4	12,146,363 (GRCm39)	missense	probably damaging	1.00
R8932:Rbm12b1	UTSW	4	12,145,689 (GRCm39)	missense	probably benign	0.00
R9302:Rbm12b1	UTSW	4	12,146,181 (GRCm39)	missense	probably benign	0.13
Z1088:Rbm12b1	UTSW	4	12,146,079 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTTGGCCAGTCTGAAAGCC -3'
(R):5'- TTCATCAGCCACATGCCTG -3'

Sequencing Primer
(F):5'- GCCAGTCTGAAAGCCTTCGTTAC -3'
(R):5'- AACGCCTGAAATGTTCTTCGG -3'

Posted On

2016-11-21