Mutagenetix > Incidental Mutation

Incidental Mutation 'R3439:Srbd1'

267331

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

D530025C17Rik

MMRRC Submission

040657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R3439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86292093-86452603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86365187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 623 (S623N)

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: S623N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: S623N

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

0.0583

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	C	A	15: 10,381,511 (GRCm39)	P255Q	probably benign	Het
Cdcp3	T	C	7: 130,790,508 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,873,322 (GRCm39)	Y2458H	possibly damaging	Het
Dnhd1	A	G	7: 105,343,992 (GRCm39)	T1779A	probably damaging	Het
Glb1l	A	T	1: 75,179,264 (GRCm39)	C222S	probably damaging	Het
Gnb1l	A	G	16: 18,371,117 (GRCm39)	T203A	probably benign	Het
Helq	T	C	5: 100,946,170 (GRCm39)	E57G	probably damaging	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lingo1	T	C	9: 56,528,017 (GRCm39)	T191A	probably benign	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Med13	T	C	11: 86,176,123 (GRCm39)	D1624G	probably damaging	Het
Mthfsd	A	G	8: 121,825,860 (GRCm39)	V218A	possibly damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nom1	T	C	5: 29,640,615 (GRCm39)	S314P	probably benign	Het
Nwd2	G	A	5: 63,961,895 (GRCm39)	R493H	probably benign	Het
Or4f58	T	C	2: 111,851,792 (GRCm39)	M136V	possibly damaging	Het
Or5an11	A	T	19: 12,245,759 (GRCm39)	H55L	possibly damaging	Het
Palm	C	T	10: 79,652,618 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,162,752 (GRCm39)	E1115G	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prrc2b	T	C	2: 32,096,359 (GRCm39)	F577L	probably benign	Het
Rnpepl1	A	T	1: 92,844,662 (GRCm39)	T385S	possibly damaging	Het
Serpinb7	A	T	1: 107,356,081 (GRCm39)	I35F	probably damaging	Het
Tchh	A	G	3: 93,354,700 (GRCm39)	E1380G	unknown	Het
Tet2	G	T	3: 133,172,592 (GRCm39)	A1890D	possibly damaging	Het
Tfr2	G	T	5: 137,572,913 (GRCm39)	V215F	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vwde	T	A	6: 13,208,374 (GRCm39)	L169F	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
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
R4300:Srbd1	UTSW	17	86,292,632 (GRCm39)	missense	probably damaging	0.98
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'- GTTCATGTGGCAAAGCTTTTACAC -3'
(R):5'- TGGATGTGAGCCTTTGCATC -3'

Sequencing Primer
(F):5'- GGCAAAGCTTTTACACTTTCTTGG -3'
(R):5'- GATGTGAGCCTTTGCATCTGCTATC -3'

Posted On

2015-02-18