Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03220:Shcbp1l'

413635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shcbp1l

Ensembl Gene

ENSMUSG00000042708

Gene Name

Shc SH2-domain binding protein 1-like

Synonyms

1700012A16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

IGL03220

Quality Score

Status

Chromosome

Chromosomal Location

153300908-153328320 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 153308911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042373] [ENSMUST00000136614]

AlphaFold

Q3TTP0

Predicted Effect

probably benign
Transcript: ENSMUST00000042373

SMART Domains

Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708

Domain	Start	End	E-Value	Type
low complexity region	42	54	N/A	INTRINSIC
CASH	362	522	2.85e-8	SMART
PbH1	479	500	2.3e3	SMART
PbH1	501	523	5.74e1	SMART
PbH1	524	557	2.3e3	SMART
PbH1	560	582	1.56e0	SMART
low complexity region	603	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136614

SMART Domains

Protein: ENSMUSP00000137625
Gene: ENSMUSG00000042708

Domain	Start	End	E-Value	Type
low complexity region	42	54	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with reduced sperm, increased male germ cell apoptosis and spindle instability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	A	1: 179,615,767 (GRCm39)	E368D	probably benign	Het
Arid2	A	T	15: 96,259,653 (GRCm39)	H271L	probably damaging	Het
Bsnd	G	T	4: 106,343,962 (GRCm39)	Q115K	possibly damaging	Het
Ceacam5	T	A	7: 17,494,653 (GRCm39)	I887N	probably damaging	Het
Clrn2	T	C	5: 45,621,070 (GRCm39)	F155L	probably damaging	Het
Col12a1	A	G	9: 79,606,765 (GRCm39)	S553P	probably damaging	Het
Crnn	C	T	3: 93,056,674 (GRCm39)	H487Y	possibly damaging	Het
Ddi2	T	C	4: 141,435,767 (GRCm39)	N90S	probably benign	Het
Deup1	T	A	9: 15,503,707 (GRCm39)	I285L	probably benign	Het
Dlgap4	T	C	2: 156,546,546 (GRCm39)	S405P	probably damaging	Het
Dnah11	A	G	12: 118,069,720 (GRCm39)	F1560L	probably benign	Het
Dock1	T	C	7: 134,710,251 (GRCm39)		probably null	Het
Dst	C	A	1: 34,225,076 (GRCm39)	Q1161K	probably damaging	Het
Dus1l	G	T	11: 120,683,185 (GRCm39)	H280N	probably damaging	Het
Gm21985	C	A	2: 112,187,829 (GRCm39)	H964N	possibly damaging	Het
Gzmd	A	T	14: 56,367,886 (GRCm39)	V129E	probably damaging	Het
Hmcn2	T	A	2: 31,236,633 (GRCm39)	F392Y	possibly damaging	Het
Kdelr2	T	A	5: 143,403,870 (GRCm39)	Y86*	probably null	Het
Kif26b	T	G	1: 178,692,434 (GRCm39)	C458W	probably damaging	Het
Lhpp	G	A	7: 132,252,020 (GRCm39)	V220I	probably benign	Het
Nfya	T	C	17: 48,707,521 (GRCm39)	N7S	possibly damaging	Het
Or5ar1	G	T	2: 85,671,326 (GRCm39)	Q270K	possibly damaging	Het
Or5b12b	C	T	19: 12,861,815 (GRCm39)	T190I	possibly damaging	Het
Or5b24	A	C	19: 12,912,858 (GRCm39)	Y252S	probably damaging	Het
Prkg1	A	T	19: 30,546,637 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,274,672 (GRCm39)	E383G	probably damaging	Het
Ptpn21	A	T	12: 98,644,882 (GRCm39)	V1153E	probably damaging	Het
Ryr1	A	T	7: 28,759,280 (GRCm39)	I3330N	probably damaging	Het
Sgk1	A	G	10: 21,873,290 (GRCm39)	D252G	probably null	Het
Shoc1	G	A	4: 59,082,378 (GRCm39)	Q417*	probably null	Het
Skida1	T	C	2: 18,052,972 (GRCm39)	D60G	probably damaging	Het
Slc9a5	T	A	8: 106,094,652 (GRCm39)	C748S	probably benign	Het
Smc4	A	T	3: 68,916,875 (GRCm39)	Y163F	possibly damaging	Het
Spdya	T	C	17: 71,885,286 (GRCm39)	S247P	possibly damaging	Het
Sptb	T	C	12: 76,659,684 (GRCm39)	D1072G	probably benign	Het
St7l	A	T	3: 104,782,139 (GRCm39)		probably benign	Het
Trmt1l	T	C	1: 151,316,692 (GRCm39)		probably benign	Het
Tspan4	A	G	7: 141,071,712 (GRCm39)	Y153C	probably damaging	Het
Ulk4	A	T	9: 120,974,402 (GRCm39)	N944K	probably damaging	Het
Unc80	T	C	1: 66,544,097 (GRCm39)	C407R	probably damaging	Het
Zfp563	T	G	17: 33,323,661 (GRCm39)	S85R	probably benign	Het
Zp2	A	C	7: 119,736,450 (GRCm39)	L331R	possibly damaging	Het

Other mutations in Shcbp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Shcbp1l	APN	1	153,311,553 (GRCm39)	missense	possibly damaging	0.79
IGL01067:Shcbp1l	APN	1	153,311,770 (GRCm39)	missense	possibly damaging	0.49
IGL02292:Shcbp1l	APN	1	153,311,891 (GRCm39)	splice site	probably benign
IGL02588:Shcbp1l	APN	1	153,304,411 (GRCm39)	missense	probably benign	0.05
R0467:Shcbp1l	UTSW	1	153,308,928 (GRCm39)	missense	probably damaging	1.00
R0534:Shcbp1l	UTSW	1	153,304,314 (GRCm39)	missense	possibly damaging	0.78
R1192:Shcbp1l	UTSW	1	153,301,253 (GRCm39)	missense	possibly damaging	0.60
R2878:Shcbp1l	UTSW	1	153,313,264 (GRCm39)	splice site	probably benign
R2910:Shcbp1l	UTSW	1	153,304,372 (GRCm39)	missense	probably damaging	0.98
R2911:Shcbp1l	UTSW	1	153,304,372 (GRCm39)	missense	probably damaging	0.98
R3080:Shcbp1l	UTSW	1	153,311,783 (GRCm39)	missense	possibly damaging	0.95
R3854:Shcbp1l	UTSW	1	153,328,190 (GRCm39)	missense	probably damaging	1.00
R7373:Shcbp1l	UTSW	1	153,300,986 (GRCm39)	missense	probably benign	0.07
R7793:Shcbp1l	UTSW	1	153,323,571 (GRCm39)	missense	probably benign	0.00
R9415:Shcbp1l	UTSW	1	153,321,627 (GRCm39)	missense	possibly damaging	0.79
R9708:Shcbp1l	UTSW	1	153,328,011 (GRCm39)	missense	probably damaging	0.98
Z1176:Shcbp1l	UTSW	1	153,328,131 (GRCm39)	missense	probably damaging	0.99
Z1176:Shcbp1l	UTSW	1	153,328,020 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02