Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4418001:Strbp'

555559

Institutional Source

Beutler Lab

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: 0.512) question?

Stock #

PIT4418001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37483228-37703859 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37645492 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 68 (E68G)

Ref Sequence

ENSEMBL: ENSMUSP00000072047 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028279
AA Change: E68G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: E68G

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: E68G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: E68G

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: ENSMUST00000145808
AA Change: E68G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120163
Gene: ENSMUSG00000026915
AA Change: E68G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155237
AA Change: E68G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122263
Gene: ENSMUSG00000026915
AA Change: E68G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183690
AA Change: E68G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: E68G

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

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,839,648	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,243,724	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,024,587	I1049F	probably benign	Het
Atg9b	A	T	5: 24,385,515	S859T	possibly damaging	Het
Banp	G	A	8: 122,005,626	A380T	probably damaging	Het
Brinp3	C	T	1: 146,901,423	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,654,423	E1155G		Het
Capn12	T	C	7: 28,886,536	S270P	probably benign	Het
Cbs	A	T	17: 31,615,521	I498N	possibly damaging	Het
Ccdc129	T	G	6: 55,968,345	S684A	probably damaging	Het
Cep68	T	C	11: 20,239,731	K427R	probably benign	Het
Cobl	G	A	11: 12,256,240	T545I	possibly damaging	Het
Cr2	T	A	1: 195,157,452	M556L	probably benign	Het
Crebbp	A	G	16: 4,114,825	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,838,868	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,081,261	L159P		Het
Dnajb4	A	T	3: 152,193,497	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,770,949	F369S	probably damaging	Het
Dtl	A	T	1: 191,541,317	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,132,051	Q612L	possibly damaging	Het
Efr3b	A	T	12: 3,980,490	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,053,494	Q1085L	probably damaging	Het
Ell	T	C	8: 70,581,681	V199A	probably damaging	Het
Elmod2	G	T	8: 83,321,542	T97K	probably benign	Het
Epn3	T	C	11: 94,496,130	E138G	probably damaging	Het
Esf1	A	T	2: 140,159,777	F383L	probably benign	Het
Fam193a	A	T	5: 34,440,535	T559S	probably damaging	Het
Galr2	T	C	11: 116,283,258	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411	I237M	probably benign	Het
Gm5160	A	T	18: 14,425,282	I139F	probably damaging	Het
Gpr15	T	C	16: 58,717,950	T259A	probably benign	Het
Iffo1	A	G	6: 125,149,783	K293E	possibly damaging	Het
Ikbip	T	A	10: 91,096,533	H346Q	probably benign	Het
Il4ra	G	A	7: 125,576,338	G573S	probably benign	Het
Ing2	A	T	8: 47,669,090	M141K	probably benign	Het
Itga6	T	C	2: 71,834,070	S517P	probably benign	Het
Kcnab1	A	G	3: 65,358,320	E295G	probably benign	Het
Klhl21	A	C	4: 152,015,378	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,824,541	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,667,052	L64F	probably null	Het
Mos	T	C	4: 3,870,814	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,322,947	F338V	probably damaging	Het
Nefl	G	A	14: 68,086,530	V406M	probably damaging	Het
Nfam1	C	A	15: 83,001,488	R181L	probably damaging	Het
Ntn5	A	G	7: 45,686,501	R119G	probably damaging	Het
Olfr1145	G	T	2: 87,810,594	C258F	probably damaging	Het
Olfr1453	A	T	19: 13,027,731	Y199*	probably null	Het
Olfr19	T	C	16: 16,673,855	N42S	probably damaging	Het
Plch2	A	T	4: 154,989,503	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,501,267	Q111R	probably null	Het
Ptchd3	T	A	11: 121,841,740	Y485*	probably null	Het
Ptchd4	T	A	17: 42,503,089	I627N	probably damaging	Het
Retnlb	T	C	16: 48,817,268	V19A	probably benign	Het
Rimbp2	T	A	5: 128,780,361	T809S	probably benign	Het
Sema6c	T	A	3: 95,170,090	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,603,825	A631V	unknown	Het
Snai3	A	T	8: 122,456,334	H157Q	probably benign	Het
Snx15	T	C	19: 6,123,931	Y52C	probably damaging	Het
Sun1	T	A	5: 139,226,588	D155E	probably damaging	Het
Susd2	T	C	10: 75,638,349	D627G	probably benign	Het
Tas2r108	T	A	6: 40,493,680	I30K	probably damaging	Het
Tmc2	T	C	2: 130,248,651	V639A	probably damaging	Het
Trmt1	T	C	8: 84,697,670	Y445H	probably damaging	Het
Ttn	A	T	2: 76,767,210	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 12,176,839	V216G	probably damaging	Het
Wdr64	C	A	1: 175,743,594	Y331*	probably null	Het
Zfyve28	A	T	5: 34,233,377	V180E	probably damaging	Het
Zic4	C	T	9: 91,379,394	T234I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCCTGGCTTTCCTAAAGAATTTAAC -3'
(R):5'- TTTTGCCAATGATGATCGCC -3'

Sequencing Primer
(F):5'- CCATGAAAGATTTACTACCTTG -3'
(R):5'- GCCAATGATGATCGCCATGTTATG -3'

Posted On

2019-06-07