Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Srbd1'

223272

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85984665-86145175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86142400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 14 (N14D)

Ref Sequence

ENSEMBL: ENSMUSP00000092810 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095187
AA Change: N14D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: N14D

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,625,606		noncoding transcript	Het
Abcb4	T	A	5: 8,905,989	S98T	probably benign	Het
Acan	T	C	7: 79,100,793	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Ak2	T	A	4: 129,008,229	S232T	probably benign	Het
Akr1e1	T	A	13: 4,607,565		probably benign	Het
Ano7	T	C	1: 93,400,581		probably benign	Het
Aox1	T	A	1: 58,047,141	H68Q	possibly damaging	Het
Apaf1	A	G	10: 91,061,814	V269A	possibly damaging	Het
Apba2	A	T	7: 64,733,542	I368F	probably damaging	Het
Armc3	A	G	2: 19,288,936	M513V	probably benign	Het
Asb5	G	A	8: 54,583,620	V116M	probably damaging	Het
Atg16l2	A	G	7: 101,294,920	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,164,861	T40K	probably damaging	Het
C330027C09Rik	T	C	16: 49,005,851		probably benign	Het
Cdk2ap2	A	G	19: 4,097,903	M57V	possibly damaging	Het
Ctnnd1	T	C	2: 84,620,360	N172S	probably benign	Het
Ddx55	T	A	5: 124,566,440	V370E	probably damaging	Het
Ddx6	A	G	9: 44,607,534	T48A	probably benign	Het
Dnah10	C	T	5: 124,833,988	R4490W	probably damaging	Het
Dspp	T	A	5: 104,178,559	S929R	unknown	Het
Erbb3	T	C	10: 128,586,225	Y50C	probably benign	Het
Fam209	C	A	2: 172,472,769	N59K	probably benign	Het
Fgd3	T	C	13: 49,296,455	E106G	probably benign	Het
Frmd4a	A	C	2: 4,572,365	K344T	probably damaging	Het
Gbe1	A	G	16: 70,528,926	E617G	probably damaging	Het
Gm5089	T	A	14: 122,436,274	I12F	unknown	Het
Gm7052	T	A	17: 22,039,939		probably benign	Het
Gria1	A	T	11: 57,012,104	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,733,245	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Kcnma1	A	C	14: 23,337,029	S982A	probably damaging	Het
Khdrbs3	T	A	15: 69,013,479		probably benign	Het
Kif23	A	T	9: 61,927,384	C426*	probably null	Het
Lmo7	G	T	14: 101,887,061	A319S	probably benign	Het
Ly6c1	T	A	15: 75,048,493	T7S	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mamdc4	A	T	2: 25,567,232	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,956,816	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,405,803	T158A	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,248,403	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,589,698	H655L	possibly damaging	Het
Npas2	T	C	1: 39,338,195	V546A	probably benign	Het
Nrxn3	G	A	12: 90,332,315	A400T	probably damaging	Het
Olfr1020	T	A	2: 85,850,400	V316E	probably benign	Het
Olfr1066	T	C	2: 86,455,473	H266R	probably benign	Het
Olfr139	A	T	11: 74,045,039	S78R	possibly damaging	Het
Oog3	G	T	4: 144,158,105	H420Q	possibly damaging	Het
Pak7	T	A	2: 136,116,637	H177L	probably benign	Het
Pcca	A	G	14: 122,887,065	I683V	probably benign	Het
Pea15a	T	C	1: 172,198,685	I90V	probably benign	Het
Plagl1	C	A	10: 13,128,658		probably benign	Het
Prmt1	A	G	7: 44,978,724	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,834	Y910*	probably null	Het
Rasal3	T	A	17: 32,393,611	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,727,166		probably benign	Het
S1pr1	A	G	3: 115,712,895	S17P	probably benign	Het
Scel	G	A	14: 103,541,985	V131M	probably damaging	Het
Scn2a	G	A	2: 65,682,083	R188Q	probably null	Het
Snap29	T	A	16: 17,406,326	Y68*	probably null	Het
Spdl1	T	C	11: 34,822,646	T199A	probably benign	Het
Ston1	G	A	17: 88,635,529	G121D	probably benign	Het
Syt16	G	A	12: 74,235,203	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,671,403	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,806,195	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,539,768		probably benign	Het
Trp73	T	C	4: 154,081,445	T56A	probably damaging	Het
Trpm3	A	G	19: 22,982,583	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,697,878		probably null	Het
Ube4b	T	C	4: 149,383,797	D174G	probably benign	Het
Vmn1r211	A	T	13: 22,851,783	M238K	probably damaging	Het
Wsb2	T	A	5: 117,370,733	N77K	probably benign	Het
Xkr4	C	T	1: 3,671,095	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,689,478		probably null	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
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'- TCTCTCTTGGATCATGGCAC -3'
(R):5'- GGTTCTCTTCTGACCAGCAG -3'

Sequencing Primer
(F):5'- TGGCACAATTATAACAGAGAGTTG -3'
(R):5'- TCCTGTGGGGAGCCAGTG -3'

Posted On

2014-08-25