Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Srbd1'

215745

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

MMRRC Submission

039952-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85984665-86145175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86102893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 537 (V537A)

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: V537A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: V537A

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,649,833	L548P	probably damaging	Het
Abca6	A	G	11: 110,210,083		probably null	Het
Abcb5	A	G	12: 118,907,500		probably null	Het
Acacb	G	A	5: 114,198,282	A686T	probably benign	Het
Acot6	T	C	12: 84,106,593	V203A	probably benign	Het
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adamts9	A	G	6: 92,943,121	L12P	possibly damaging	Het
Adamtsl2	A	T	2: 27,089,593	D258V	probably damaging	Het
Aox4	G	A	1: 58,245,936	V616I	probably benign	Het
Ap1m1	A	G	8: 72,255,793	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,629,791	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,523,943	E17A	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Arih1	T	C	9: 59,394,932	D431G	probably damaging	Het
Astn2	C	T	4: 65,435,189	V1115M	probably damaging	Het
Atg7	T	A	6: 114,701,235	M280K	probably damaging	Het
Birc3	T	C	9: 7,854,499	T397A	possibly damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,589,860	S121T	possibly damaging	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Cenpb	A	G	2: 131,179,264	S205P	probably benign	Het
Chsy1	T	C	7: 66,172,243	V742A	probably damaging	Het
Col12a1	G	A	9: 79,604,522	R133*	probably null	Het
Col18a1	A	C	10: 77,112,744	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,607,134	V260M	probably damaging	Het
Coq2	T	A	5: 100,661,865	R17S	probably damaging	Het
Ctf1	A	G	7: 127,712,764	R4G	probably damaging	Het
Cwc27	T	C	13: 104,631,676	D437G	probably benign	Het
Cyp4f14	T	C	17: 32,906,315	N430D	probably damaging	Het
Dars2	A	G	1: 161,063,241		probably null	Het
Dgkz	A	T	2: 91,937,104	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,708,582	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,395,906	Y233C	probably damaging	Het
Edem3	A	T	1: 151,804,283	D460V	probably damaging	Het
Ednra	A	G	8: 77,689,118	S167P	possibly damaging	Het
Eif3m	A	T	2: 105,001,279	V180D	probably damaging	Het
Fam217a	T	A	13: 34,910,881	R207S	probably damaging	Het
Fcgbp	G	A	7: 28,107,093	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,090,278	I894F	probably benign	Het
Fpgs	A	T	2: 32,687,981	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,890	S70P	probably benign	Het
Frs2	T	C	10: 117,078,901	M38V	probably damaging	Het
Fsip2	A	G	2: 82,980,558	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,920,470	T283S	probably benign	Het
Gas2l1	T	A	11: 5,061,408	T474S	probably benign	Het
Gli1	A	T	10: 127,331,239	M715K	possibly damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm5800	T	A	14: 51,711,939	N183I	possibly damaging	Het
Gm8674	T	A	13: 49,901,435		noncoding transcript	Het
Gnat3	A	T	5: 18,019,510	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,856,827	V547M	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Heatr5b	T	C	17: 78,795,918	I1169V	possibly damaging	Het
Icam5	A	G	9: 21,034,786	T305A	probably benign	Het
Itga11	T	A	9: 62,744,514	N309K	probably damaging	Het
Itgb6	T	C	2: 60,669,149	D100G	probably benign	Het
Kdm3b	A	G	18: 34,813,544	K862R	probably benign	Het
Kif7	T	C	7: 79,711,538	D135G	probably benign	Het
Lrp4	A	G	2: 91,480,432	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Metap1d	A	T	2: 71,522,583	H252L	possibly damaging	Het
Mfhas1	A	G	8: 35,591,097	K909E	possibly damaging	Het
Mrgprh	C	T	17: 12,876,951	T26I	probably damaging	Het
Myo15b	T	C	11: 115,863,484	S937P	probably benign	Het
Neto2	A	T	8: 85,670,404	I73N	possibly damaging	Het
Nod2	T	C	8: 88,663,719	I196T	probably benign	Het
Nvl	T	G	1: 181,099,128	T788P	probably damaging	Het
Olfr539	C	A	7: 140,668,038	C243*	probably null	Het
Olfr90	A	T	17: 37,086,014	D50E	possibly damaging	Het
Pax3	G	A	1: 78,103,480	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,692,691	V2403A	possibly damaging	Het
Phip	C	T	9: 82,903,182	V827I	probably benign	Het
Plcb3	A	G	19: 6,964,609	F285L	probably damaging	Het
Pnp2	A	G	14: 50,956,218	I16V	probably benign	Het
Pola2	A	G	19: 5,953,741	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,505,110	N651K	probably benign	Het
Prss53	T	C	7: 127,886,748		probably null	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rasgrf2	A	T	13: 91,983,706		probably null	Het
Rccd1	T	A	7: 80,320,524	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,114,644	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,720,789	V87A	probably damaging	Het
Slc5a4b	A	T	10: 76,081,473	V243E	possibly damaging	Het
Sos2	T	G	12: 69,648,541	I141L	probably damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tshr	T	C	12: 91,537,181	S298P	probably damaging	Het
Tspan14	T	C	14: 40,934,252	Y6C	probably damaging	Het
Ttn	A	T	2: 76,747,040	V24503E	probably damaging	Het
Vcan	T	A	13: 89,702,926	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,247,794	M1V	probably null	Het
Vps39	A	T	2: 120,318,077	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,409,734	D270V	unknown	Het
Wdr24	A	T	17: 25,824,266	M21L	possibly damaging	Het
Wee1	A	G	7: 110,122,491	T48A	probably benign	Het
Zfp369	T	C	13: 65,297,151	C703R	probably damaging	Het
Zfp532	A	T	18: 65,685,611	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,373,652	T46A	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
R2002:Srbd1	UTSW	17	86142400	missense	probably benign
R2228:Srbd1	UTSW	17	85985223	missense	probably damaging	1.00
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'- TACAGGAAGCCCTCTCATCC -3'
(R):5'- ACTCAGGGTCAGGATGTTTCATC -3'

Sequencing Primer
(F):5'- ATCCCCACAGCCCCGTG -3'
(R):5'- GTTTCATCCCTGAAGATTGACTACAC -3'

Posted On

2014-07-14