Mutagenetix > Incidental Mutation

Incidental Mutation 'R4332:Rbm12b1'

323618

Institutional Source

Beutler Lab

Gene Symbol

Rbm12b1

Ensembl Gene

ENSMUSG00000046667

Gene Name

RNA binding motif protein 12 B1

Synonyms

Rbm12b, 3000004N20Rik

MMRRC Submission

041099-MU

Accession Numbers

Essential gene?

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

Stock #

R4332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12140264-12146731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12145655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 542 (K542N)

Ref Sequence

ENSEMBL: ENSMUSP00000064195 (fasta)

Gene Model

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

AlphaFold

Q80YR9

Predicted Effect

probably benign
Transcript: ENSMUST00000050069
AA Change: K542N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053555
Gene: ENSMUSG00000046667
AA Change: K542N

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 benign
Transcript: ENSMUST00000069128
AA Change: K542N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064195
Gene: ENSMUSG00000046667
AA Change: K542N

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 106,436,356 (GRCm39)	I175T	possibly damaging	Het
A2m	A	G	6: 121,634,406 (GRCm39)	D646G	probably benign	Het
Acat2	T	C	17: 13,181,782 (GRCm39)		probably benign	Het
Armc10	T	A	5: 21,866,579 (GRCm39)	V281E	probably damaging	Het
Best3	T	A	10: 116,838,429 (GRCm39)	F162L	probably benign	Het
Ces1g	T	C	8: 94,046,446 (GRCm39)	M360V	probably benign	Het
Chd7	G	T	4: 8,854,143 (GRCm39)	R1905L	probably damaging	Het
Dhx36	C	T	3: 62,392,412 (GRCm39)	R538Q	probably damaging	Het
Efna2	G	A	10: 80,024,315 (GRCm39)	R161Q	probably damaging	Het
Farsb	T	C	1: 78,445,903 (GRCm39)	T159A	possibly damaging	Het
Fry	C	T	5: 150,305,128 (GRCm39)	A611V	probably damaging	Het
Fsip2	A	G	2: 82,808,201 (GRCm39)	T1507A	probably benign	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm7367	T	C	7: 59,805,364 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,095 (GRCm39)		noncoding transcript	Het
Gmfg	A	T	7: 28,136,997 (GRCm39)	M1L	probably benign	Het
Gpr149	C	A	3: 62,511,794 (GRCm39)	L68F	possibly damaging	Het
Hmga2	T	C	10: 120,200,117 (GRCm39)		probably benign	Het
Il12a	C	A	3: 68,602,594 (GRCm39)		probably benign	Het
Itprid1	G	A	6: 55,945,220 (GRCm39)	G647D	possibly damaging	Het
Itsn2	T	A	12: 4,762,611 (GRCm39)	M1597K	possibly damaging	Het
Kyat3	A	G	3: 142,431,187 (GRCm39)	I154M	probably damaging	Het
Npas3	A	C	12: 54,108,852 (GRCm39)	I419L	probably damaging	Het
Ogfrl1	T	A	1: 23,414,910 (GRCm39)	Y199F	probably damaging	Het
Or14a259	A	C	7: 86,013,080 (GRCm39)	V155G	probably benign	Het
Or5aq7	A	G	2: 86,938,089 (GRCm39)	V214A	possibly damaging	Het
Or6b6	T	C	7: 106,571,354 (GRCm39)	M66V	probably benign	Het
P2rx3	G	A	2: 84,855,205 (GRCm39)	P84S	probably benign	Het
P3h3	A	G	6: 124,819,099 (GRCm39)	V657A	probably damaging	Het
Pabpc2	A	G	18: 39,908,393 (GRCm39)	M553V	probably benign	Het
Pcdhb1	T	C	18: 37,398,583 (GRCm39)	F178S	probably damaging	Het
Plppr4	A	T	3: 117,116,474 (GRCm39)	M403K	probably benign	Het
Ralgapa2	G	A	2: 146,102,288 (GRCm39)	T1956M	probably benign	Het
Rdh8	C	T	9: 20,733,925 (GRCm39)	A37V	probably damaging	Het
Rnf213	A	G	11: 119,327,502 (GRCm39)	T1830A	probably damaging	Het
Sardh	G	T	2: 27,105,126 (GRCm39)	Q666K	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	T	G	11: 87,458,730 (GRCm39)	L368R	possibly damaging	Het
Serpinb11	G	A	1: 107,297,294 (GRCm39)		probably null	Het
Slc6a6	G	A	6: 91,700,452 (GRCm39)	G60D	probably damaging	Het
Tfr2	A	G	5: 137,569,996 (GRCm39)	D134G	probably damaging	Het
Tmprss15	T	C	16: 78,831,222 (GRCm39)	T378A	probably benign	Het
Tmprss7	T	G	16: 45,506,690 (GRCm39)	K124T	probably benign	Het
Urb1	A	G	16: 90,571,425 (GRCm39)	L1128P	probably damaging	Het
Usp32	C	T	11: 84,994,804 (GRCm39)	C36Y	possibly damaging	Het
Vmn2r50	T	A	7: 9,786,922 (GRCm39)	T62S	probably benign	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGAGTTTGGTGTAAAGTCTTCC -3'
(R):5'- TGAGATGGCCGTCTGAAGTC -3'

Sequencing Primer
(F):5'- CCTGGTTGTCTAATGAGAGGACAC -3'
(R):5'- AAGGGCTTCTTAGCTGCCTACG -3'

Posted On

2015-06-24