Mutagenetix > Incidental Mutation

Incidental Mutation 'R9302:Rbm12b1'

704996

Institutional Source

Beutler Lab

Gene Symbol

Rbm12b1

Ensembl Gene

ENSMUSG00000046667

Gene Name

RNA binding motif protein 12 B1

Synonyms

Rbm12b, 3000004N20Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12140264-12146731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12146181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 718 (H718N)

Ref Sequence

ENSEMBL: ENSMUSP00000053555 (fasta)

Gene Model

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

AlphaFold

Q80YR9

Predicted Effect

probably benign
Transcript: ENSMUST00000050069
AA Change: H718N

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000053555
Gene: ENSMUSG00000046667
AA Change: H718N

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: H718N

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064195
Gene: ENSMUSG00000046667
AA Change: H718N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,392,956 (GRCm39)	L115P	probably damaging	Het
Acsl1	T	A	8: 46,983,470 (GRCm39)	D494E	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Ak9	A	T	10: 41,196,486 (GRCm39)	I103F		Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Ano4	T	A	10: 88,831,220 (GRCm39)	I468L	probably benign	Het
Anxa2r1	A	G	13: 120,496,626 (GRCm39)	I81T	probably benign	Het
Arhgef10l	G	A	4: 140,242,548 (GRCm39)	S959L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap221	T	C	1: 119,853,365 (GRCm39)	I776M	probably benign	Het
Col3a1	C	T	1: 45,350,980 (GRCm39)	Q25*	probably null	Het
Crabp2	C	A	3: 87,859,833 (GRCm39)	L100I	probably benign	Het
Dnah5	A	G	15: 28,240,032 (GRCm39)	D463G	probably benign	Het
Dst	T	C	1: 34,264,636 (GRCm39)	L2602P	probably damaging	Het
Dusp1	A	G	17: 26,726,148 (GRCm39)	Y182H	probably damaging	Het
Fhip1a	C	A	3: 85,579,941 (GRCm39)	D755Y	probably damaging	Het
Fras1	T	A	5: 96,682,751 (GRCm39)	C83S	probably damaging	Het
Frrs1	G	T	3: 116,692,899 (GRCm39)		probably null	Het
Gcnt3	A	G	9: 69,942,529 (GRCm39)	L13P	possibly damaging	Het
Gm8094	T	C	14: 42,932,834 (GRCm39)	D88G	probably benign	Het
Hfe	C	T	13: 23,890,025 (GRCm39)	M249I	probably benign	Het
Hipk1	T	C	3: 103,685,099 (GRCm39)	E172G	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Ltb4r2	A	T	14: 55,999,733 (GRCm39)	Q118L	probably damaging	Het
Ltbp4	A	T	7: 27,008,481 (GRCm39)	C1342S	possibly damaging	Het
Lyst	A	G	13: 13,904,947 (GRCm39)	D3208G	possibly damaging	Het
Mbnl2	A	G	14: 120,622,950 (GRCm39)	T163A	probably benign	Het
Mre11a	T	A	9: 14,696,826 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,776,238 (GRCm39)	N610D	possibly damaging	Het
Nt5c1b	T	C	12: 10,430,882 (GRCm39)	S390P	probably damaging	Het
Or10ag53	T	A	2: 87,082,906 (GRCm39)	F208L	probably benign	Het
Pde3b	A	G	7: 114,122,621 (GRCm39)	T730A	probably damaging	Het
Pdzd2	G	T	15: 12,374,342 (GRCm39)	T1931N	possibly damaging	Het
Pla2g15	C	T	8: 106,877,201 (GRCm39)	A28V	probably benign	Het
Pmfbp1	A	T	8: 110,268,474 (GRCm39)	D1007V	probably damaging	Het
Polr1a	T	A	6: 71,901,683 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,721,891 (GRCm39)	K312E	probably benign	Het
Prmt5	G	A	14: 54,749,583 (GRCm39)	T269I	probably benign	Het
Pwp2	A	G	10: 78,009,540 (GRCm39)	S793P	probably benign	Het
Rfx1	T	A	8: 84,817,662 (GRCm39)	M512K	possibly damaging	Het
Rp1	T	C	1: 4,416,789 (GRCm39)	E1441G	probably damaging	Het
Slc16a6	C	T	11: 109,350,634 (GRCm39)	V207I	probably benign	Het
Slc6a9	G	A	4: 117,706,596 (GRCm39)	R7H	possibly damaging	Het
Sptlc1	A	T	13: 53,528,047 (GRCm39)	V39D	probably benign	Het
Strc	A	T	2: 121,211,336 (GRCm39)	L3Q	unknown	Het
Svep1	C	T	4: 58,120,565 (GRCm39)	E823K	possibly damaging	Het
Tat	A	G	8: 110,725,031 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,968,800 (GRCm39)	N190K	possibly damaging	Het
Tomt	T	C	7: 101,549,826 (GRCm39)	E154G	probably damaging	Het
Topaz1	T	A	9: 122,617,887 (GRCm39)	V1228E	possibly damaging	Het
Trim55	G	A	3: 19,727,153 (GRCm39)	V407M	probably benign	Het
Ttll5	T	A	12: 85,873,338 (GRCm39)	M5K	possibly damaging	Het
Ugt2a2	A	C	5: 87,609,940 (GRCm39)	Y380*	probably null	Het
Usp46	A	G	5: 74,163,922 (GRCm39)	Y272H	probably benign	Het
Vps39	A	T	2: 120,151,525 (GRCm39)		probably benign	Het
Zfp12	T	A	5: 143,230,421 (GRCm39)	H281Q	probably damaging	Het
Zfp142	C	A	1: 74,606,302 (GRCm39)	R1756L	probably damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	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
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
Z1088:Rbm12b1	UTSW	4	12,146,079 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTGATGAGGACTTCCGGAC -3'
(R):5'- CTGTAATGAAACGGAATCAGGTATG -3'

Sequencing Primer
(F):5'- TTCCGGACCTCCCAAGAAGATTTG -3'
(R):5'- CGGAATCAGGTATGACTTTATAACC -3'

Posted On

2022-03-25