Mutagenetix > Incidental Mutation

Incidental Mutation 'R4300:Srbd1'

322395

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

D530025C17Rik

MMRRC Submission

041657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4300 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86292093-86452603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86292632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 979 (R979L)

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: R979L

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

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: R979L

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

0.4600

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	A	3: 146,356,675 (GRCm39)	R78*	probably null	Het
A2m	G	A	6: 121,650,434 (GRCm39)	V1181I	probably benign	Het
Cacna1b	T	C	2: 24,525,251 (GRCm39)	S1639G	probably damaging	Het
Ccs	T	C	19: 4,884,285 (GRCm39)	T56A	probably benign	Het
Cd177	T	C	7: 24,449,845 (GRCm39)	I547V	possibly damaging	Het
Ckmt2	C	A	13: 92,011,457 (GRCm39)		probably null	Het
Cyth1	A	G	11: 118,074,720 (GRCm39)	F180L	probably damaging	Het
Dip2c	A	G	13: 9,660,747 (GRCm39)	I840M	probably damaging	Het
Gm37150	G	A	9: 72,292,758 (GRCm39)		noncoding transcript	Het
Herc1	A	G	9: 66,396,688 (GRCm39)	D4255G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn4	G	T	7: 24,077,029 (GRCm39)	V193L	probably benign	Het
Lrrc8d	G	A	5: 105,961,606 (GRCm39)	R672Q	probably damaging	Het
Mboat2	A	G	12: 25,009,082 (GRCm39)	N463D	probably benign	Het
Mtfr1	T	A	3: 19,269,621 (GRCm39)		probably null	Het
Or10g6	A	C	9: 39,934,435 (GRCm39)	I249L	probably benign	Het
Or5h24	T	C	16: 58,918,641 (GRCm39)	Y238C	unknown	Het
Pcnt	G	C	10: 76,203,225 (GRCm39)	R2626G	probably benign	Het
Pik3cg	A	G	12: 32,226,671 (GRCm39)	I1072T	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psph	G	T	5: 129,864,529 (GRCm39)		probably null	Het
Rfx4	T	C	10: 84,740,966 (GRCm39)	Y601H	probably damaging	Het
Rmc1	A	G	18: 12,321,919 (GRCm39)	N513D	probably benign	Het
Setd5	T	G	6: 113,127,123 (GRCm39)	V1249G	probably damaging	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Spata31	A	T	13: 65,067,575 (GRCm39)	H79L	probably benign	Het
Stox2	A	T	8: 47,647,027 (GRCm39)	Y208*	probably null	Het
Sun1	A	T	5: 139,213,349 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tubgcp3	G	T	8: 12,707,600 (GRCm39)	P130T	probably damaging	Het
Txlnb	A	G	10: 17,703,673 (GRCm39)	E277G	probably damaging	Het

Other mutations in Srbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Srbd1	APN	17	86,422,637 (GRCm39)	missense	probably damaging	1.00
IGL00988:Srbd1	APN	17	86,437,698 (GRCm39)	missense	probably damaging	0.96
IGL01111:Srbd1	APN	17	86,405,961 (GRCm39)	missense	probably benign	0.15
IGL02186:Srbd1	APN	17	86,416,659 (GRCm39)	missense	probably benign
IGL02233:Srbd1	APN	17	86,406,050 (GRCm39)	splice site	probably null
IGL02307:Srbd1	APN	17	86,433,616 (GRCm39)	missense	probably damaging	1.00
IGL02392:Srbd1	APN	17	86,295,801 (GRCm39)	missense	probably benign	0.34
IGL02831:Srbd1	APN	17	86,311,299 (GRCm39)	missense	probably damaging	1.00
IGL03299:Srbd1	APN	17	86,428,087 (GRCm39)	missense	possibly damaging	0.95
PIT4494001:Srbd1	UTSW	17	86,449,787 (GRCm39)	critical splice donor site	probably null
PIT4677001:Srbd1	UTSW	17	86,422,640 (GRCm39)	nonsense	probably null
R0233:Srbd1	UTSW	17	86,365,173 (GRCm39)	missense	probably damaging	1.00
R0233:Srbd1	UTSW	17	86,365,173 (GRCm39)	missense	probably damaging	1.00
R0464:Srbd1	UTSW	17	86,427,430 (GRCm39)	missense	probably damaging	1.00
R0692:Srbd1	UTSW	17	86,443,888 (GRCm39)	missense	probably benign	0.25
R0771:Srbd1	UTSW	17	86,437,682 (GRCm39)	missense	probably benign	0.09
R1074:Srbd1	UTSW	17	86,311,380 (GRCm39)	missense	probably damaging	1.00
R1173:Srbd1	UTSW	17	86,405,940 (GRCm39)	missense	probably null	1.00
R1446:Srbd1	UTSW	17	86,446,580 (GRCm39)	missense	probably benign	0.44
R1587:Srbd1	UTSW	17	86,292,865 (GRCm39)	missense	probably damaging	1.00
R1780:Srbd1	UTSW	17	86,365,113 (GRCm39)	missense	probably damaging	1.00
R1865:Srbd1	UTSW	17	86,422,732 (GRCm39)	splice site	probably benign
R1933:Srbd1	UTSW	17	86,410,321 (GRCm39)	missense	probably damaging	1.00
R1934:Srbd1	UTSW	17	86,410,321 (GRCm39)	missense	probably damaging	1.00
R2002:Srbd1	UTSW	17	86,449,828 (GRCm39)	missense	probably benign
R2228:Srbd1	UTSW	17	86,292,651 (GRCm39)	missense	probably damaging	1.00
R3160:Srbd1	UTSW	17	86,437,643 (GRCm39)	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86,437,643 (GRCm39)	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86,437,643 (GRCm39)	missense	probably benign	0.03
R3439:Srbd1	UTSW	17	86,365,187 (GRCm39)	missense	probably benign	0.01
R3611:Srbd1	UTSW	17	86,410,355 (GRCm39)	missense	probably benign	0.03
R4255:Srbd1	UTSW	17	86,410,350 (GRCm39)	missense	possibly damaging	0.80
R4319:Srbd1	UTSW	17	86,358,578 (GRCm39)	missense	probably damaging	1.00
R4619:Srbd1	UTSW	17	86,416,693 (GRCm39)	missense	probably benign	0.30
R4620:Srbd1	UTSW	17	86,416,693 (GRCm39)	missense	probably benign	0.30
R4629:Srbd1	UTSW	17	86,428,100 (GRCm39)	missense	probably damaging	0.99
R5379:Srbd1	UTSW	17	86,308,964 (GRCm39)	missense	possibly damaging	0.88
R5469:Srbd1	UTSW	17	86,427,370 (GRCm39)	missense	possibly damaging	0.77
R5587:Srbd1	UTSW	17	86,435,229 (GRCm39)	missense	probably damaging	0.99
R5726:Srbd1	UTSW	17	86,428,157 (GRCm39)	missense	possibly damaging	0.89
R6166:Srbd1	UTSW	17	86,406,696 (GRCm39)	missense	probably damaging	1.00
R6237:Srbd1	UTSW	17	86,292,723 (GRCm39)	missense	probably damaging	0.99
R6696:Srbd1	UTSW	17	86,446,619 (GRCm39)	missense	possibly damaging	0.46
R6971:Srbd1	UTSW	17	86,406,718 (GRCm39)	missense	possibly damaging	0.79
R6986:Srbd1	UTSW	17	86,292,650 (GRCm39)	missense	probably damaging	1.00
R7018:Srbd1	UTSW	17	86,443,843 (GRCm39)	missense	possibly damaging	0.93
R7082:Srbd1	UTSW	17	86,365,160 (GRCm39)	missense	probably damaging	1.00
R7209:Srbd1	UTSW	17	86,308,948 (GRCm39)	missense	probably damaging	1.00
R7340:Srbd1	UTSW	17	86,443,782 (GRCm39)	missense	probably benign	0.02
R7417:Srbd1	UTSW	17	86,443,749 (GRCm39)	missense	probably benign
R7467:Srbd1	UTSW	17	86,406,702 (GRCm39)	missense	probably damaging	0.96
R7833:Srbd1	UTSW	17	86,292,882 (GRCm39)	missense	possibly damaging	0.63
R8720:Srbd1	UTSW	17	86,358,571 (GRCm39)	missense	probably damaging	1.00
R8839:Srbd1	UTSW	17	86,295,849 (GRCm39)	missense	probably benign
R8899:Srbd1	UTSW	17	86,292,885 (GRCm39)	missense
R8905:Srbd1	UTSW	17	86,308,890 (GRCm39)	missense	probably benign	0.00
R9051:Srbd1	UTSW	17	86,428,115 (GRCm39)	missense	possibly damaging	0.70
R9402:Srbd1	UTSW	17	86,406,705 (GRCm39)	missense	probably benign	0.26
R9701:Srbd1	UTSW	17	86,433,559 (GRCm39)	missense	probably damaging	1.00
R9729:Srbd1	UTSW	17	86,437,550 (GRCm39)	missense	probably benign
R9733:Srbd1	UTSW	17	86,422,711 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGTAGGACACCATG -3'
(R):5'- GCAAAGTGGAGAATGCTACTCTG -3'

Sequencing Primer
(F):5'- TAGGACACCATGCGAGGTCTC -3'
(R):5'- AAAGTGGAGAATGCTACTCTGTTTGG -3'

Posted On

2015-06-20