Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Strbp'

182948

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: 0.385) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

37483228-37703859 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37625285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 243 (L243P)

Ref Sequence

ENSEMBL: ENSMUSP00000139145 (fasta)

Gene Model

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

AlphaFold

Q91WM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028279
AA Change: L243P

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

SMART Domains

Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: L243P

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 damaging
Transcript: ENSMUST00000072186
AA Change: L243P

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

SMART Domains

Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: L243P

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 damaging
Transcript: ENSMUST00000183690
AA Change: L243P

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

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: L243P

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	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
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
R8921:Strbp	UTSW	2	37624491	critical splice donor site	probably null
R8936:Strbp	UTSW	2	37603937	nonsense	probably null
R9742:Strbp	UTSW	2	37625256	missense	probably damaging	1.00

Posted On

2014-05-07