Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Srbd1'

71457

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

MMRRC Submission

038664-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85984665-86145175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86120002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 401 (S401F)

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: S401F

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

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: S401F

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

Meta Mutation Damage Score

0.0960

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,437	L28P	probably damaging	Het
Ada	G	T	2: 163,732,964	Y84*	probably null	Het
Adar	T	A	3: 89,735,582	C257S	possibly damaging	Het
Adgrd1	G	T	5: 129,162,650	C507F	probably damaging	Het
Atp5a1	T	C	18: 77,779,922	Y299H	probably benign	Het
Bok	G	T	1: 93,694,213	R77L	probably damaging	Het
Cdx2	C	A	5: 147,306,473	K170N	possibly damaging	Het
Ceacam1	A	G	7: 25,472,017	S341P	possibly damaging	Het
Cfhr3	A	T	1: 139,593,945		noncoding transcript	Het
Ckap5	A	G	2: 91,579,513	I947V	probably benign	Het
Clec2i	T	C	6: 128,895,423	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,691	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 27,132,537	Q406K	probably benign	Het
Ddx28	A	G	8: 106,010,053	S458P	probably damaging	Het
Dppa3	T	A	6: 122,628,533		probably null	Het
Dusp10	C	A	1: 184,069,076	L347I	probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fbxl15	A	T	19: 46,328,512	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567		probably benign	Het
Fras1	G	T	5: 96,636,803	V882F	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,050,834		probably benign	Het
Ganc	T	A	2: 120,436,694	V497D	probably benign	Het
Glt8d2	T	G	10: 82,654,730	H242P	possibly damaging	Het
Gm906	A	G	13: 50,248,275		probably benign	Het
Gna15	T	C	10: 81,512,504	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,480,886	K609E	unknown	Het
Gprc5a	A	T	6: 135,079,415	K287*	probably null	Het
Iqub	T	A	6: 24,479,263	K427*	probably null	Het
Itpr2	C	G	6: 146,375,889	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,322,973	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,560,359	E334G	probably damaging	Het
Lypd6	T	A	2: 50,190,678	I126N	probably damaging	Het
Mtus1	T	C	8: 41,002,474	D56G	probably damaging	Het
Myo1h	A	G	5: 114,360,510	D889G	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nab1	T	C	1: 52,490,015	D241G	possibly damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Ncbp3	C	T	11: 73,069,821		probably benign	Het
Nek1	T	A	8: 61,072,273		probably benign	Het
Nf1	T	C	11: 79,556,789	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,218,244	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 143,743,893		probably benign	Het
Paox	T	A	7: 140,129,282		probably benign	Het
Pcdh15	T	A	10: 74,626,844		probably null	Het
Pde8b	G	A	13: 95,104,698	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814	V905D	probably benign	Het
Pik3cb	A	G	9: 99,044,743		probably null	Het
Rassf5	T	C	1: 131,212,261	N87S	probably benign	Het
Rbl1	C	A	2: 157,147,545	K1051N	probably damaging	Het
Rfx7	T	C	9: 72,618,204	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
Rnf144b	T	A	13: 47,242,887	Y233*	probably null	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Sbf2	T	C	7: 110,464,576		probably benign	Het
Sgo2a	A	T	1: 58,000,094	K85N	probably damaging	Het
Siglec1	A	T	2: 131,079,359	C631S	probably damaging	Het
Simc1	C	T	13: 54,537,100	R50*	probably null	Het
Skint5	T	A	4: 113,535,731	M1235L	unknown	Het
Slc22a19	A	T	19: 7,682,913	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,701,759	F852L	possibly damaging	Het
Stk36	C	A	1: 74,611,172	Q288K	probably damaging	Het
Styx	T	C	14: 45,372,451	S191P	probably benign	Het
Supt6	T	A	11: 78,216,338	N1214I	probably benign	Het
Tcim	T	A	8: 24,438,628	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,671,475	M1L	probably damaging	Het
Tep1	T	A	14: 50,847,684	T881S	probably benign	Het
Tlr5	C	T	1: 182,973,710	A193V	probably benign	Het
Tmem117	T	A	15: 94,714,919	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,760,549	R1633W	probably damaging	Het
Trh	T	C	6: 92,243,668		probably null	Het
Triobp	A	G	15: 78,966,986	R447G	possibly damaging	Het
Trip6	A	G	5: 137,313,681	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Usp33	T	C	3: 152,376,235		probably benign	Het
Vmn2r60	A	T	7: 42,135,831	I156F	probably damaging	Het
Wdr17	T	C	8: 54,670,392		probably benign	Het
Wdr35	G	T	12: 9,027,472		probably benign	Het
Wwp1	C	T	4: 19,638,763		probably benign	Het
Zfp652	T	C	11: 95,763,649	C293R	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
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
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'- CATGTGGGCTATCACACTGTCAGC -3'
(R):5'- TTCAGCCTCCTGTGAGGGTAGATAC -3'

Sequencing Primer
(F):5'- TCTCCATTTGGGAAATCAGGGAAC -3'
(R):5'- ccgtgtagatcatgctgtcc -3'

Posted On

2013-09-30