Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03299:Srbd1'

416163

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 #

IGL03299

Quality Score

Status

Chromosome

Chromosomal Location

86292093-86452603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86428087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 382 (I382N)

Ref Sequence

ENSEMBL: ENSMUSP00000092810 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095187
AA Change: I382N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: I382N

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	A	G	X: 126,303,476 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,484,565 (GRCm39)	C1566S	probably damaging	Het
Akr1cl	A	T	1: 65,063,874 (GRCm39)	L105H	probably damaging	Het
Ano1	A	G	7: 144,207,993 (GRCm39)	F256S	probably damaging	Het
Arfip2	C	T	7: 105,287,150 (GRCm39)	R138H	probably damaging	Het
Cers6	T	A	2: 68,692,128 (GRCm39)	M50K	probably benign	Het
Dnah1	G	A	14: 31,037,079 (GRCm39)	Q256*	probably null	Het
Dync1h1	G	A	12: 110,585,644 (GRCm39)	E852K	possibly damaging	Het
Fars2	C	T	13: 36,721,384 (GRCm39)	Q443*	probably null	Het
Glb1l3	T	C	9: 26,770,748 (GRCm39)	N106S	probably damaging	Het
Haus7	T	C	X: 72,496,670 (GRCm39)		probably null	Het
Hectd1	C	T	12: 51,847,671 (GRCm39)		probably benign	Het
Hyal5	G	T	6: 24,877,881 (GRCm39)	G326C	probably damaging	Het
Ibtk	A	T	9: 85,603,189 (GRCm39)	D605E	probably benign	Het
Kif26b	T	C	1: 178,649,125 (GRCm39)	L415P	probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Muc5b	A	G	7: 141,395,117 (GRCm39)	D41G	unknown	Het
Mxra7	A	G	11: 116,695,360 (GRCm39)		probably benign	Het
Ncoa6	T	C	2: 155,249,207 (GRCm39)	T1366A	probably damaging	Het
Nmd3	C	T	3: 69,637,762 (GRCm39)		probably null	Het
Or6c206	T	C	10: 129,097,196 (GRCm39)	V122A	probably benign	Het
Pla2g4a	T	C	1: 149,727,118 (GRCm39)	N546S	probably damaging	Het
Prkcz	T	C	4: 155,371,247 (GRCm39)	T139A	possibly damaging	Het
Rarb	T	C	14: 16,434,168 (GRCm38)	K337E	probably damaging	Het
Rps6ka4	C	T	19: 6,809,615 (GRCm39)		probably benign	Het
Scamp2	A	G	9: 57,485,023 (GRCm39)		probably null	Het
Scn3a	T	A	2: 65,327,860 (GRCm39)	M877L	probably benign	Het
Sh3pxd2b	T	C	11: 32,361,448 (GRCm39)		probably benign	Het
Slc22a29	C	T	19: 8,140,012 (GRCm39)		probably null	Het
Slc34a1	T	C	13: 24,005,094 (GRCm39)		probably null	Het
Tm7sf2	T	C	19: 6,112,958 (GRCm39)	I387M	probably benign	Het
Wfs1	C	A	5: 37,125,731 (GRCm39)	E311*	probably null	Het
Zc3h13	G	A	14: 75,531,381 (GRCm39)	R93H	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
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

2016-08-02