Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00988:Srbd1'

29377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

D530025C17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL00988

Quality Score

Status

Chromosome

Chromosomal Location

86292093-86452603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86437698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 215 (E215G)

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: E215G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: E215G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,937 (GRCm39)		probably null	Het
Acin1	G	A	14: 54,884,257 (GRCm39)	T67I	probably damaging	Het
Agmo	T	C	12: 37,407,716 (GRCm39)	I200T	probably damaging	Het
Cep95	A	G	11: 106,697,220 (GRCm39)	T248A	probably benign	Het
Cmya5	C	T	13: 93,234,441 (GRCm39)	V216M	possibly damaging	Het
Gas6	T	G	8: 13,526,171 (GRCm39)	T256P	probably damaging	Het
Gbf1	T	C	19: 46,272,559 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,347,110 (GRCm39)	V435I	possibly damaging	Het
Lama2	T	A	10: 27,245,011 (GRCm39)	K257*	probably null	Het
Lrriq1	A	T	10: 102,997,757 (GRCm39)	V1286E	probably damaging	Het
Mtbp	T	A	15: 55,421,894 (GRCm39)		probably benign	Het
Nedd1	A	G	10: 92,525,548 (GRCm39)	V587A	possibly damaging	Het
Stxbp4	A	G	11: 90,426,338 (GRCm39)	V490A	probably benign	Het
Vmn2r124	A	G	17: 18,282,932 (GRCm39)	M209V	probably benign	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
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
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

Posted On

2013-04-17