Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Strbp'

1898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Strbp

Ensembl Gene

ENSMUSG00000026915

Gene Name

spermatid perinuclear RNA binding protein

Synonyms

6430510M02Rik, Spnr, C230082I21Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

37483228-37703859 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 37586504 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028279] [ENSMUST00000072186] [ENSMUST00000183690]

Predicted Effect

probably benign
Transcript: ENSMUST00000028279

SMART Domains

Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072186

SMART Domains

Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183690

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203861

Predicted Effect

probably benign
Transcript: ENSMUST00000204569

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Strbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Strbp	APN	2	37603138	splice site	probably benign
IGL01376:Strbp	APN	2	37645651	missense	probably damaging	1.00
IGL01998:Strbp	APN	2	37625285	missense	probably damaging	1.00
IGL02347:Strbp	APN	2	37645648	missense	probably benign	0.25
IGL02453:Strbp	APN	2	37586508	critical splice donor site	probably null
IGL02804:Strbp	APN	2	37624486	splice site	probably benign
IGL03102:Strbp	APN	2	37586503	splice site	probably benign
PIT4418001:Strbp	UTSW	2	37645492	missense	probably benign
R0382:Strbp	UTSW	2	37600826	missense	probably benign	0.00
R0575:Strbp	UTSW	2	37640873	missense	possibly damaging	0.87
R0610:Strbp	UTSW	2	37584077	missense	probably damaging	0.97
R0825:Strbp	UTSW	2	37635527	missense	probably benign	0.00
R1829:Strbp	UTSW	2	37640909	missense	possibly damaging	0.63
R1831:Strbp	UTSW	2	37625265	missense	possibly damaging	0.71
R3416:Strbp	UTSW	2	37590725	missense	possibly damaging	0.94
R3417:Strbp	UTSW	2	37590725	missense	possibly damaging	0.94
R4673:Strbp	UTSW	2	37645679	missense	probably damaging	1.00
R5093:Strbp	UTSW	2	37627487	missense	probably damaging	0.99
R5099:Strbp	UTSW	2	37603018	missense	probably damaging	0.98
R5269:Strbp	UTSW	2	37627443	missense	possibly damaging	0.87
R5378:Strbp	UTSW	2	37599174	missense	probably damaging	1.00
R5378:Strbp	UTSW	2	37600806	missense	probably benign	0.03
R5454:Strbp	UTSW	2	37645483	missense	probably benign	0.00
R5905:Strbp	UTSW	2	37625255	missense	probably damaging	1.00
R6028:Strbp	UTSW	2	37625255	missense	probably damaging	1.00
R6374:Strbp	UTSW	2	37603008	missense	probably damaging	1.00
R6700:Strbp	UTSW	2	37603963	missense	probably null	0.01
R6800:Strbp	UTSW	2	37625216	missense	probably damaging	1.00
R7032:Strbp	UTSW	2	37603113	missense	possibly damaging	0.92
R7139:Strbp	UTSW	2	37624502	missense	probably benign	0.00
R7261:Strbp	UTSW	2	37641137	splice site	probably null
R7481:Strbp	UTSW	2	37600754	missense	probably benign	0.02
R7718:Strbp	UTSW	2	37625282	missense	probably damaging	1.00
R7959:Strbp	UTSW	2	37640894	missense	probably benign	0.00

Posted On

2011-07-12