Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Rbm46'

577208

Institutional Source

Beutler Lab

Gene Symbol

Rbm46

Ensembl Gene

ENSMUSG00000033882

Gene Name

RNA binding motif protein 46

Synonyms

ENSMUSG00000033882, LOC329687

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82837228-82876483 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82864210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 366 (E366V)

Ref Sequence

ENSEMBL: ENSMUSP00000045511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048647] [ENSMUST00000182637] [ENSMUST00000182818]

AlphaFold

P86049

Predicted Effect

probably damaging
Transcript: ENSMUST00000048647
AA Change: E366V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045511
Gene: ENSMUSG00000033882
AA Change: E366V

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
RRM	62	135	8.13e-15	SMART
RRM	142	219	1.36e-7	SMART
RRM	237	304	4.23e-13	SMART
Pfam:DND1_DSRM	392	468	9.4e-30	PFAM
low complexity region	494	514	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182637
AA Change: E366V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138728
Gene: ENSMUSG00000033882
AA Change: E366V

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
RRM	62	135	8.13e-15	SMART
RRM	142	219	1.36e-7	SMART
RRM	237	304	4.23e-13	SMART
Pfam:DND1_DSRM	392	468	1.3e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182818
AA Change: E366V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138429
Gene: ENSMUSG00000033882
AA Change: E366V

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
RRM	62	135	8.13e-15	SMART
RRM	142	219	1.36e-7	SMART
RRM	237	304	4.23e-13	SMART
Pfam:DND1_DSRM	392	468	2.1e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124	T2208A		Het
Ap4s1	T	C	12: 51,738,641	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 29,058,618	S648P	possibly damaging	Het
Camta1	C	T	4: 151,144,291	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672	S730R	possibly damaging	Het
Col11a1	A	T	3: 114,193,929	E1374D	unknown	Het
Csmd1	A	G	8: 16,158,254	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658	T76M	unknown	Het
Ermap	G	A	4: 119,188,710	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167	D29G		Het
Ipo8	T	C	6: 148,789,817	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519	S3P	unknown	Het
Mei4	A	G	9: 81,890,239	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,391,679	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,447,967	D131G	probably benign	Het
Ppl	T	C	16: 5,089,068	D1121G	probably damaging	Het
Prkra	T	C	2: 76,633,598	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,358,501	H326L	probably benign	Het
Rapgef5	A	G	12: 117,755,969	D778G	probably benign	Het
Rnd1	G	T	15: 98,670,669	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495	H81Q	probably damaging	Het
Soga3	T	C	10: 29,197,003	S764P	possibly damaging	Het
Stk16	T	C	1: 75,213,652	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909		probably null	Het
Trav14-2	A	G	14: 53,641,058	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618	W2157*	probably null	Het

Other mutations in Rbm46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02261:Rbm46	APN	3	82864416	missense	possibly damaging	0.85
R0048:Rbm46	UTSW	3	82864230	missense	probably damaging	0.96
R0554:Rbm46	UTSW	3	82865268	missense	probably damaging	1.00
R1606:Rbm46	UTSW	3	82864541	missense	probably damaging	1.00
R2200:Rbm46	UTSW	3	82864044	missense	probably benign	0.00
R2357:Rbm46	UTSW	3	82864458	missense	probably benign	0.00
R4646:Rbm46	UTSW	3	82864458	missense	probably benign	0.00
R4647:Rbm46	UTSW	3	82864458	missense	probably benign	0.00
R4648:Rbm46	UTSW	3	82864458	missense	probably benign	0.00
R5584:Rbm46	UTSW	3	82864158	missense	probably benign
R5722:Rbm46	UTSW	3	82865333	missense	possibly damaging	0.95
R6393:Rbm46	UTSW	3	82863955	missense	probably benign	0.03
R7228:Rbm46	UTSW	3	82842533	missense	probably benign
R7438:Rbm46	UTSW	3	82842488	nonsense	probably null
R7452:Rbm46	UTSW	3	82864121	missense	probably benign	0.01
R8195:Rbm46	UTSW	3	82865468	missense	probably benign	0.01
R8196:Rbm46	UTSW	3	82865468	missense	probably benign	0.01
R8211:Rbm46	UTSW	3	82865468	missense	probably benign	0.01
R8212:Rbm46	UTSW	3	82865468	missense	probably benign	0.01
R8235:Rbm46	UTSW	3	82865468	missense	probably benign	0.01
R8239:Rbm46	UTSW	3	82865468	missense	probably benign	0.01
R8276:Rbm46	UTSW	3	82864588	missense	probably damaging	0.99
R9610:Rbm46	UTSW	3	82864234	missense	probably benign	0.03
Z1177:Rbm46	UTSW	3	82837318	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAGTACTTTCCCATCCTGACTG -3'
(R):5'- TGGAAAGTGCATTGATGGAGCC -3'

Sequencing Primer
(F):5'- CCCATCCTGACTGGTTGTTG -3'
(R):5'- GCCAGTATTGAGGTAACCCTG -3'

Posted On

2019-10-07