Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02347:Strbp'

289339

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 essential (E-score: 0.602) question?

Stock #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

37483228-37703859 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37645648 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 16 (V16G)

Ref Sequence

ENSEMBL: ENSMUSP00000122263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028279] [ENSMUST00000072186] [ENSMUST00000145808] [ENSMUST00000155237] [ENSMUST00000183690]

Predicted Effect

probably benign
Transcript: ENSMUST00000028279
AA Change: V16G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: V16G

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
AA Change: V16G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: V16G

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: ENSMUST00000135488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144206

Predicted Effect

probably benign
Transcript: ENSMUST00000145808
AA Change: V16G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120163
Gene: ENSMUSG00000026915
AA Change: V16G

Domain	Start	End	E-Value	Type
Pfam:DZF	87	167	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155237
AA Change: V16G

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122263
Gene: ENSMUSG00000026915
AA Change: V16G

Domain	Start	End	E-Value	Type
Pfam:DZF	87	128	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183690
AA Change: V16G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: V16G

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,530	Y178N	probably damaging	Het
9830107B12Rik	T	A	17: 48,145,664	K35*	probably null	Het
Adad2	G	T	8: 119,616,669	G546V	probably damaging	Het
Bccip	A	G	7: 133,709,376	K7E	probably benign	Het
C8b	G	A	4: 104,786,954	E273K	probably benign	Het
Car12	T	A	9: 66,764,347	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,390,480	R299C	probably benign	Het
Dnah10	A	C	5: 124,833,423		probably null	Het
Egf	A	T	3: 129,678,377	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,719,572	W568R	possibly damaging	Het
Emc3	A	G	6: 113,520,572	M106T	possibly damaging	Het
Epp13	A	G	7: 6,269,884	I79M	possibly damaging	Het
Fam13b	T	C	18: 34,454,704	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,530,732	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023		probably null	Het
Glis3	A	G	19: 28,531,883	F234L	probably benign	Het
Gm2035	T	C	12: 87,919,589	D90G	probably damaging	Het
Grap2	T	C	15: 80,646,356		probably benign	Het
H2-M10.2	T	A	17: 36,285,613	E113D	probably benign	Het
Itgb6	T	C	2: 60,611,412	T685A	probably benign	Het
Mrpl19	A	T	6: 81,962,011	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734		probably benign	Het
Msr1	G	T	8: 39,632,737	T34K	probably damaging	Het
Npc1	C	T	18: 12,199,634	V780M	probably benign	Het
Nsun6	A	G	2: 15,030,020		probably benign	Het
Nt5c2	A	G	19: 46,924,256		probably benign	Het
Nucb2	A	C	7: 116,535,878	Q340P	probably benign	Het
Olfr168	A	G	16: 19,530,779	L47P	probably damaging	Het
Olfr401	C	T	11: 74,121,571	T94I	probably benign	Het
Osgin1	A	G	8: 119,445,538	E357G	probably benign	Het
Pabpc6	C	T	17: 9,669,064	R186K	probably benign	Het
Pex1	A	G	5: 3,603,350	K83R	probably damaging	Het
Ppid	A	G	3: 79,595,219	I82V	probably benign	Het
Pygl	C	T	12: 70,201,892	G318S	probably benign	Het
Rcn1	A	T	2: 105,399,126	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,657,630		probably benign	Het
Rnf148	A	G	6: 23,654,730	V89A	probably benign	Het
Siglecf	G	A	7: 43,351,721	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,258,954		probably null	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Sos2	A	T	12: 69,596,746	D953E	probably benign	Het
Sycp1	A	T	3: 102,893,547	M567K	probably benign	Het
Tedc2	A	C	17: 24,220,610	V19G	probably damaging	Het
Tjp1	A	G	7: 65,301,064		probably null	Het
Ttn	A	T	2: 76,709,220	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 13,102,647	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,480,233	T488A	possibly damaging	Het
Zfp541	A	G	7: 16,083,465	Y945C	probably damaging	Het

Other mutations in Strbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Strbp	APN	2	37586504	splice site	probably benign
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
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	intron	probably null
R7481:Strbp	UTSW	2	37600754	missense	probably benign	0.02
R7718:Strbp	UTSW	2	37625282	missense	probably damaging	1.00

Posted On

2015-04-16