Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Rbm12b1'

279815

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm12b1

Ensembl Gene

ENSMUSG00000046667

Gene Name

RNA binding motif protein 12 B1

Synonyms

Rbm12b, 3000004N20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

12140264-12146731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12145563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 512 (F512I)

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: F512I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053555
Gene: ENSMUSG00000046667
AA Change: F512I

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: F512I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064195
Gene: ENSMUSG00000046667
AA Change: F512I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,659,138 (GRCm39)	T206M	probably benign	Het
Adcy3	T	A	12: 4,184,390 (GRCm39)	V22D	possibly damaging	Het
Alb	G	A	5: 90,611,990 (GRCm39)	E140K	probably benign	Het
Aph1a	G	A	3: 95,803,125 (GRCm39)	V193I	probably damaging	Het
Asb2	G	A	12: 103,299,755 (GRCm39)	R178*	probably null	Het
Celf3	A	T	3: 94,394,108 (GRCm39)	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,228,635 (GRCm39)	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,079,625 (GRCm39)	S353T	probably damaging	Het
Dlg5	A	C	14: 24,194,414 (GRCm39)	L1709R	probably damaging	Het
Dst	T	C	1: 34,229,199 (GRCm39)	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,450,130 (GRCm39)	N149I	probably benign	Het
Fancm	A	G	12: 65,142,558 (GRCm39)	D472G	probably benign	Het
Fasn	T	C	11: 120,702,762 (GRCm39)	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,180,122 (GRCm39)	R1406S	probably damaging	Het
Fat4	C	A	3: 38,943,348 (GRCm39)	T747K	probably damaging	Het
Fer	A	G	17: 64,445,923 (GRCm39)	M795V	probably benign	Het
Gm5916	A	G	9: 36,039,970 (GRCm39)	L6P	probably damaging	Het
Gpr139	A	G	7: 118,744,355 (GRCm39)	F77L	possibly damaging	Het
Kcnu1	T	C	8: 26,395,976 (GRCm39)	S654P	possibly damaging	Het
Kdm5c	T	A	X: 151,031,762 (GRCm39)	F408L	probably damaging	Het
Kel	A	G	6: 41,679,323 (GRCm39)	S147P	probably benign	Het
Klra5	A	T	6: 129,888,307 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Med18	A	T	4: 132,186,977 (GRCm39)	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,502,007 (GRCm39)	M247K	possibly damaging	Het
Mx2	A	C	16: 97,345,795 (GRCm39)	D71A	probably damaging	Het
Nxt1	G	T	2: 148,517,564 (GRCm39)	E102*	probably null	Het
Or14j1	A	G	17: 38,146,169 (GRCm39)	Q93R	possibly damaging	Het
Or3a1	A	G	11: 74,225,862 (GRCm39)	F65S	probably damaging	Het
Or7g16	T	C	9: 18,727,005 (GRCm39)	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,613,161 (GRCm39)	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,667,768 (GRCm39)	V640E	probably damaging	Het
Piwil4	T	C	9: 14,637,282 (GRCm39)		probably null	Het
Pla2g4a	A	T	1: 149,776,950 (GRCm39)	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,059,501 (GRCm39)	R1276L	probably damaging	Het
Psd4	G	A	2: 24,290,540 (GRCm39)	W539*	probably null	Het
Rae1	G	A	2: 172,845,306 (GRCm39)	E33K	probably damaging	Het
Rfx6	A	G	10: 51,602,952 (GRCm39)	D823G	possibly damaging	Het
Samt3	A	T	X: 85,090,759 (GRCm39)	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,605,438 (GRCm39)	N134S	probably null	Het
Selenoo	T	C	15: 88,984,173 (GRCm39)	V663A	probably damaging	Het
Sp4	G	T	12: 118,263,284 (GRCm39)	T254N	probably damaging	Het
Spdya	A	G	17: 71,885,242 (GRCm39)	K232R	probably benign	Het
Stom	A	T	2: 35,210,401 (GRCm39)	V201E	probably benign	Het
Sycp3	A	G	10: 88,302,334 (GRCm39)	K108R	possibly damaging	Het
Usp2	A	G	9: 44,000,425 (GRCm39)		probably benign	Het
Vmn1r226	T	C	17: 20,907,926 (GRCm39)	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,372,349 (GRCm39)	G47D	probably damaging	Het
Vwf	T	G	6: 125,623,318 (GRCm39)	L1805W	probably damaging	Het
Washc3	A	T	10: 88,037,687 (GRCm39)	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,335,546 (GRCm39)	D1761V	probably 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
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
R5773:Rbm12b1	UTSW	4	12,145,765 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16