Mutagenetix > Incidental Mutation

Incidental Mutation 'R1074:Srbd1'

85584

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

D530025C17Rik

MMRRC Submission

039160-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R1074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86292093-86452603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86311380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 679 (H679L)

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: H679L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: H679L

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

0.9082

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,421 (GRCm39)	S98P	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acbd3	C	T	1: 180,566,113 (GRCm39)	Q269*	probably null	Het
Ankrd6	T	C	4: 32,822,232 (GRCm39)	H179R	probably damaging	Het
Ano1	T	A	7: 144,165,417 (GRCm39)	N603Y	probably damaging	Het
Catsperg1	T	C	7: 28,906,274 (GRCm39)	E143G	probably damaging	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Epn1	T	C	7: 5,098,047 (GRCm39)	V286A	probably benign	Het
Fam117b	C	T	1: 59,997,485 (GRCm39)	A279V	possibly damaging	Het
Impg2	G	A	16: 56,085,541 (GRCm39)		probably benign	Het
Man1a2	C	T	3: 100,563,402 (GRCm39)	R81H	possibly damaging	Het
Medag	G	T	5: 149,335,674 (GRCm39)	V78L	probably benign	Het
Meioc	C	T	11: 102,566,219 (GRCm39)	H612Y	probably damaging	Het
Nab2	G	A	10: 127,499,124 (GRCm39)	Q385*	probably null	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Or10p1	T	C	10: 129,444,335 (GRCm39)	N5S	probably damaging	Het
Or2n1	T	C	17: 38,486,331 (GRCm39)	S119P	probably damaging	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pcdhga1	A	G	18: 37,958,140 (GRCm39)		probably benign	Het
Pik3c2a	G	A	7: 115,950,160 (GRCm39)	R1286*	probably null	Het
Pira13	T	C	7: 3,826,069 (GRCm39)	D308G	probably damaging	Het
Plk3	T	C	4: 116,988,955 (GRCm39)	E268G	probably damaging	Het
Pzp	T	A	6: 128,464,887 (GRCm39)	N1329I	probably benign	Het
Reps1	A	G	10: 17,970,194 (GRCm39)	T264A	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spata31e2	T	C	1: 26,722,307 (GRCm39)	K958E	probably benign	Het
Srarp	T	A	4: 141,160,707 (GRCm39)	D42V	probably damaging	Het
Tbc1d2b	G	A	9: 90,104,393 (GRCm39)	P583L	possibly damaging	Het
Vmn2r22	T	C	6: 123,626,217 (GRCm39)	D73G	probably benign	Het
Zfp512b	A	T	2: 181,230,972 (GRCm39)	S374R	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGCTTGGGACAACAGCACTATC -3'
(R):5'- TGGAAGCAGATTCCTTCATTTCAGCTC -3'

Sequencing Primer
(F):5'- CAATCAATGGTTACCATGAGGC -3'
(R):5'- CCTTCATTTCAGCTCAGTTATATCTG -3'

Posted On

2013-11-18