Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Srbd1'

239884

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85984665-86145175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85985223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 973 (I973V)

Ref Sequence

ENSEMBL: ENSMUSP00000092810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095187]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000095187
AA Change: I973V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: I973V

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
low complexity region	104	128	N/A	INTRINSIC
Pfam:Tex_N	213	403	2.8e-43	PFAM
YqgFc	532	631	4.1e-32	SMART
Pfam:HHH_7	668	764	1.6e-6	PFAM
Pfam:HHH_3	698	762	4.2e-25	PFAM
S1	903	978	7e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,729,591	T242A	probably benign	Het
Adam24	A	T	8: 40,680,365	I291L	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adcy8	C	A	15: 64,822,207	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 3,981,133	P461S	probably benign	Het
Araf	T	C	X: 20,851,673	F144L	probably benign	Het
Atp11b	G	T	3: 35,806,942	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759		probably null	Het
Bclaf1	T	A	10: 20,339,878		probably benign	Het
Cadps	A	G	14: 12,465,935	Y987H	probably benign	Het
Capn6	T	G	X: 143,804,789	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,243,017	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856		probably null	Het
Cep162	G	T	9: 87,244,331	T176K	probably benign	Het
Cpsf2	A	G	12: 101,989,829	D297G	probably benign	Het
Entpd8	T	C	2: 25,085,016	M453T	probably damaging	Het
Eprs	T	A	1: 185,367,537	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,796,738	C413*	probably null	Het
Flrt1	T	A	19: 7,095,358	D608V	probably damaging	Het
Fstl5	C	A	3: 76,482,352	N285K	probably damaging	Het
Golga1	T	C	2: 39,023,171	D543G	probably benign	Het
H2afy	C	T	13: 56,084,262	G235S	probably damaging	Het
Hivep2	A	G	10: 14,128,363	H235R	probably damaging	Het
Htr2c	G	C	X: 147,194,190	W325C	probably damaging	Het
Htr2c	G	T	X: 147,194,192	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,619,230	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496	S920P	probably damaging	Het
Mcm8	T	A	2: 132,820,121	I125K	possibly damaging	Het
Micall1	C	T	15: 79,129,836	R644W	probably damaging	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,894,180	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934		probably null	Het
Neb	T	C	2: 52,232,995	R3734G	probably benign	Het
Nup93	C	T	8: 94,304,191	T305I	probably benign	Het
Olfr1350	A	T	7: 6,570,803	M271L	probably benign	Het
P2ry4	A	G	X: 100,593,947	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,453,786	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,733,698	R224L	probably benign	Het
Ptafr	T	G	4: 132,579,380	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 139,255,188	C182R	probably damaging	Het
Reln	A	G	5: 21,987,078	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,397,784		probably null	Het
Samd9l	T	C	6: 3,376,910	H117R	probably benign	Het
Sfxn4	C	T	19: 60,851,020	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,377,939	K803*	probably null	Het
Smim23	C	A	11: 32,821,870	Q65H	probably damaging	Het
Spata18	A	T	5: 73,666,901	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,865,617	V389M	probably damaging	Het
Ssx2ip	C	T	3: 146,417,776	P10L	probably damaging	Het
Taf2	A	C	15: 55,064,646	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,724,724	L42S	probably benign	Het
Tex15	C	A	8: 33,571,237	H232N	probably benign	Het
Tg	A	T	15: 66,674,011	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776		probably null	Het
Tro	A	T	X: 150,655,481	M60K	probably benign	Het
Ttc38	G	A	15: 85,844,503	V219I	probably benign	Het
U2af2	T	C	7: 5,075,673	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,787,907	S208F	probably damaging	Het
Wdr35	A	G	12: 8,974,955	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,320,407	W189G	probably damaging	Het
Zfp512	A	T	5: 31,465,575	K73N	probably damaging	Het

Other mutations in Srbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Srbd1	APN	17	86115209	missense	probably damaging	1.00
IGL00988:Srbd1	APN	17	86130270	missense	probably damaging	0.96
IGL01111:Srbd1	APN	17	86098533	missense	probably benign	0.15
IGL02186:Srbd1	APN	17	86109231	missense	probably benign
IGL02233:Srbd1	APN	17	86098622	splice site	probably null
IGL02307:Srbd1	APN	17	86126188	missense	probably damaging	1.00
IGL02392:Srbd1	APN	17	85988373	missense	probably benign	0.34
IGL02831:Srbd1	APN	17	86003871	missense	probably damaging	1.00
IGL03299:Srbd1	APN	17	86120659	missense	possibly damaging	0.95
PIT4494001:Srbd1	UTSW	17	86142359	critical splice donor site	probably null
PIT4677001:Srbd1	UTSW	17	86115212	nonsense	probably null
R0233:Srbd1	UTSW	17	86057745	missense	probably damaging	1.00
R0233:Srbd1	UTSW	17	86057745	missense	probably damaging	1.00
R0464:Srbd1	UTSW	17	86120002	missense	probably damaging	1.00
R0692:Srbd1	UTSW	17	86136460	missense	probably benign	0.25
R0771:Srbd1	UTSW	17	86130254	missense	probably benign	0.09
R1074:Srbd1	UTSW	17	86003952	missense	probably damaging	1.00
R1173:Srbd1	UTSW	17	86098512	missense	probably null	1.00
R1446:Srbd1	UTSW	17	86139152	missense	probably benign	0.44
R1587:Srbd1	UTSW	17	85985437	missense	probably damaging	1.00
R1780:Srbd1	UTSW	17	86057685	missense	probably damaging	1.00
R1865:Srbd1	UTSW	17	86115304	splice site	probably benign
R1933:Srbd1	UTSW	17	86102893	missense	probably damaging	1.00
R1934:Srbd1	UTSW	17	86102893	missense	probably damaging	1.00
R2002:Srbd1	UTSW	17	86142400	missense	probably benign
R3160:Srbd1	UTSW	17	86130215	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86130215	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86130215	missense	probably benign	0.03
R3439:Srbd1	UTSW	17	86057759	missense	probably benign	0.01
R3611:Srbd1	UTSW	17	86102927	missense	probably benign	0.03
R4255:Srbd1	UTSW	17	86102922	missense	possibly damaging	0.80
R4300:Srbd1	UTSW	17	85985204	missense	probably damaging	0.98
R4319:Srbd1	UTSW	17	86051150	missense	probably damaging	1.00
R4619:Srbd1	UTSW	17	86109265	missense	probably benign	0.30
R4620:Srbd1	UTSW	17	86109265	missense	probably benign	0.30
R4629:Srbd1	UTSW	17	86120672	missense	probably damaging	0.99
R5379:Srbd1	UTSW	17	86001536	missense	possibly damaging	0.88
R5469:Srbd1	UTSW	17	86119942	missense	possibly damaging	0.77
R5587:Srbd1	UTSW	17	86127801	missense	probably damaging	0.99
R5726:Srbd1	UTSW	17	86120729	missense	possibly damaging	0.89
R6166:Srbd1	UTSW	17	86099268	missense	probably damaging	1.00
R6237:Srbd1	UTSW	17	85985295	missense	probably damaging	0.99
R6696:Srbd1	UTSW	17	86139191	missense	possibly damaging	0.46
R6971:Srbd1	UTSW	17	86099290	missense	possibly damaging	0.79
R6986:Srbd1	UTSW	17	85985222	missense	probably damaging	1.00
R7018:Srbd1	UTSW	17	86136415	missense	possibly damaging	0.93
R7082:Srbd1	UTSW	17	86057732	missense	probably damaging	1.00
R7209:Srbd1	UTSW	17	86001520	missense	probably damaging	1.00
R7340:Srbd1	UTSW	17	86136354	missense	probably benign	0.02
R7417:Srbd1	UTSW	17	86136321	missense	probably benign
R7467:Srbd1	UTSW	17	86099274	missense	probably damaging	0.96
R7833:Srbd1	UTSW	17	85985454	missense	possibly damaging	0.63
R8720:Srbd1	UTSW	17	86051143	missense	probably damaging	1.00
R8839:Srbd1	UTSW	17	85988421	missense	probably benign
R8899:Srbd1	UTSW	17	85985457	missense
R8905:Srbd1	UTSW	17	86001462	missense	probably benign	0.00
R9051:Srbd1	UTSW	17	86120687	missense	possibly damaging	0.70
R9402:Srbd1	UTSW	17	86099277	missense	probably benign	0.26
R9701:Srbd1	UTSW	17	86126131	missense	probably damaging	1.00
R9729:Srbd1	UTSW	17	86130122	missense	probably benign
R9733:Srbd1	UTSW	17	86115283	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTTCCGTGGGAGTCAGGATAG -3'
(R):5'- TGTGTCTGGAAGACCTGCAG -3'

Sequencing Primer
(F):5'- TGGGAGTCAGGATAGTGTGATGAAC -3'
(R):5'- CAGTTCTTACAGGCAAAGTGG -3'

Posted On

2014-10-15