Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02322:Ssh2'

288304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssh2

Ensembl Gene

ENSMUSG00000037926

Gene Name

slingshot protein phosphatase 2

Synonyms

SSH-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

IGL02322

Quality Score

Status

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to C at 77307239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037912] [ENSMUST00000181283]

AlphaFold

Q5SW75

Predicted Effect

probably null
Transcript: ENSMUST00000037912

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:DEK_C	251	302	3.1e-13	PFAM
DSPc	307	445	2.2e-41	SMART
low complexity region	459	469	N/A	INTRINSIC
low complexity region	871	882	N/A	INTRINSIC
low complexity region	1002	1014	N/A	INTRINSIC
low complexity region	1370	1385	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180554

Predicted Effect

probably benign
Transcript: ENSMUST00000181283

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926

Domain	Start	End	E-Value	Type
Pfam:DEK_C	256	309	1.7e-18	PFAM
DSPc	313	451	2.2e-41	SMART
low complexity region	465	475	N/A	INTRINSIC
low complexity region	877	888	N/A	INTRINSIC
low complexity region	1008	1020	N/A	INTRINSIC
low complexity region	1376	1391	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 protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	G	A	8: 106,425,268 (GRCm39)	A355V	probably benign	Het
Adam9	A	G	8: 25,445,990 (GRCm39)	V801A	probably damaging	Het
Ankrd36	T	A	11: 5,564,619 (GRCm39)	V479D	possibly damaging	Het
Arid5a	C	T	1: 36,358,497 (GRCm39)	P423L	probably benign	Het
Atp13a4	T	C	16: 29,258,920 (GRCm39)	I650V	probably benign	Het
B4gat1	C	A	19: 5,089,155 (GRCm39)	P51T	possibly damaging	Het
Caskin2	G	A	11: 115,695,303 (GRCm39)	T310M	probably damaging	Het
Ccdc121rt1	A	G	1: 181,337,999 (GRCm39)	S318P	possibly damaging	Het
Ccdc159	G	T	9: 21,840,669 (GRCm39)	V79L	possibly damaging	Het
Ccser2	A	T	14: 36,631,086 (GRCm39)	V18E	probably damaging	Het
Cct8l1	T	C	5: 25,722,581 (GRCm39)	V432A	probably benign	Het
Cdh11	A	T	8: 103,374,151 (GRCm39)	F529Y	probably benign	Het
Cep250	A	G	2: 155,832,248 (GRCm39)	E1370G	probably damaging	Het
Col22a1	C	A	15: 71,694,502 (GRCm39)	G717C	unknown	Het
Csmd2	T	C	4: 128,357,520 (GRCm39)		probably benign	Het
Ctrb1	A	C	8: 112,415,951 (GRCm39)		probably null	Het
Cyp2b19	T	C	7: 26,461,803 (GRCm39)	S208P	possibly damaging	Het
Dnmt3l	T	A	10: 77,888,572 (GRCm39)	I158N	possibly damaging	Het
Evi5l	T	C	8: 4,237,236 (GRCm39)		probably benign	Het
Fkbpl	A	G	17: 34,864,298 (GRCm39)	E22G	probably benign	Het
Flnb	T	A	14: 7,894,676 (GRCm38)	F825I	probably damaging	Het
Gjb6	A	T	14: 57,361,732 (GRCm39)	N176K	probably damaging	Het
Gpc2	G	T	5: 138,274,499 (GRCm39)		probably null	Het
H1f7	T	C	15: 98,154,757 (GRCm39)	T131A	possibly damaging	Het
Il20	C	T	1: 130,837,313 (GRCm39)	C104Y	probably damaging	Het
Mgat5	A	G	1: 127,310,722 (GRCm39)	N212S	probably benign	Het
Olfm5	C	T	7: 103,803,608 (GRCm39)	G210D	probably damaging	Het
Olig2	T	C	16: 91,023,546 (GRCm39)	S87P	probably benign	Het
Or2y15	A	G	11: 49,350,784 (GRCm39)	S93G	probably benign	Het
Or4c121	T	A	2: 89,023,806 (GRCm39)	T191S	probably damaging	Het
Osbpl7	G	T	11: 96,946,950 (GRCm39)	A418S	probably benign	Het
Otog	G	T	7: 45,950,881 (GRCm39)	R2551L	probably benign	Het
Oxt	A	T	2: 130,418,200 (GRCm39)	N24I	probably damaging	Het
Pibf1	A	G	14: 99,448,419 (GRCm39)	Y626C	probably damaging	Het
Plekhh2	A	T	17: 84,896,894 (GRCm39)	K934*	probably null	Het
Pramel14	G	A	4: 143,718,591 (GRCm39)		probably benign	Het
Prdm9	A	T	17: 15,783,110 (GRCm39)	N57K	probably damaging	Het
Rapsn	A	G	2: 90,872,251 (GRCm39)	D195G	possibly damaging	Het
Rimbp3	T	G	16: 17,029,479 (GRCm39)	F968V	probably benign	Het
Rpgrip1	A	G	14: 52,387,499 (GRCm39)	N1047S	possibly damaging	Het
Slc35g1	C	T	19: 38,389,013 (GRCm39)	R107*	probably null	Het
Tiparp	C	A	3: 65,439,441 (GRCm39)	C70*	probably null	Het
Vmn2r110	A	G	17: 20,794,197 (GRCm39)	I824T	probably damaging	Het
Vmn2r78	T	C	7: 86,570,687 (GRCm39)	S402P	probably damaging	Het
Vps13c	A	G	9: 67,845,183 (GRCm39)	E2089G	probably benign	Het
Xirp2	A	T	2: 67,339,082 (GRCm39)	H441L	probably benign	Het
Zdhhc3	C	T	9: 122,929,542 (GRCm39)	G31D	probably benign	Het
Zfp330	A	G	8: 83,497,450 (GRCm39)	L64S	probably damaging	Het

Other mutations in Ssh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Ssh2	APN	11	77,332,752 (GRCm39)	missense	probably damaging	1.00
IGL01141:Ssh2	APN	11	77,340,552 (GRCm39)	missense	probably damaging	1.00
IGL01520:Ssh2	APN	11	77,340,732 (GRCm39)	missense	probably damaging	1.00
IGL01803:Ssh2	APN	11	77,316,156 (GRCm39)	missense	probably damaging	0.99
IGL01989:Ssh2	APN	11	77,344,511 (GRCm39)	missense	possibly damaging	0.79
IGL02466:Ssh2	APN	11	77,307,233 (GRCm39)	splice site	probably benign
IGL02683:Ssh2	APN	11	77,289,082 (GRCm39)	missense	probably damaging	0.99
IGL02706:Ssh2	APN	11	77,344,232 (GRCm39)	missense	possibly damaging	0.68
IGL02719:Ssh2	APN	11	77,316,413 (GRCm39)	missense	probably damaging	1.00
IGL02721:Ssh2	APN	11	77,345,551 (GRCm39)	nonsense	probably null
IGL02732:Ssh2	APN	11	77,328,602 (GRCm39)	splice site	probably null
IGL02745:Ssh2	APN	11	77,346,233 (GRCm39)	missense	probably damaging	1.00
IGL02993:Ssh2	APN	11	77,344,370 (GRCm39)	missense	probably damaging	1.00
IGL03000:Ssh2	APN	11	77,312,032 (GRCm39)	splice site	probably benign
david	UTSW	11	77,316,419 (GRCm39)	missense	probably damaging	1.00
faba	UTSW	11	77,332,811 (GRCm39)	missense	probably damaging	1.00
goliath	UTSW	11	77,344,349 (GRCm39)	missense	possibly damaging	0.48
Vicia	UTSW	11	77,345,792 (GRCm39)	missense	possibly damaging	0.68
IGL03055:Ssh2	UTSW	11	77,299,021 (GRCm39)	nonsense	probably null
R0024:Ssh2	UTSW	11	77,345,792 (GRCm39)	missense	possibly damaging	0.68
R0374:Ssh2	UTSW	11	77,298,969 (GRCm39)	missense	probably damaging	1.00
R0539:Ssh2	UTSW	11	77,345,620 (GRCm39)	missense	probably benign	0.11
R0834:Ssh2	UTSW	11	77,328,459 (GRCm39)	missense	possibly damaging	0.87
R1714:Ssh2	UTSW	11	77,344,850 (GRCm39)	missense	possibly damaging	0.94
R1743:Ssh2	UTSW	11	77,328,582 (GRCm39)	missense	probably damaging	1.00
R1889:Ssh2	UTSW	11	77,340,571 (GRCm39)	missense	probably damaging	1.00
R1895:Ssh2	UTSW	11	77,340,571 (GRCm39)	missense	probably damaging	1.00
R3945:Ssh2	UTSW	11	77,345,494 (GRCm39)	missense	possibly damaging	0.93
R3947:Ssh2	UTSW	11	77,289,082 (GRCm39)	missense	probably damaging	0.99
R3948:Ssh2	UTSW	11	77,289,082 (GRCm39)	missense	probably damaging	0.99
R4133:Ssh2	UTSW	11	77,312,095 (GRCm39)	missense	probably damaging	1.00
R4256:Ssh2	UTSW	11	77,299,009 (GRCm39)	missense	possibly damaging	0.48
R4499:Ssh2	UTSW	11	77,283,893 (GRCm39)	nonsense	probably null
R4548:Ssh2	UTSW	11	77,341,010 (GRCm39)	missense	probably benign	0.20
R4644:Ssh2	UTSW	11	77,340,402 (GRCm39)	missense	possibly damaging	0.46
R4690:Ssh2	UTSW	11	77,346,031 (GRCm39)	missense	possibly damaging	0.62
R4788:Ssh2	UTSW	11	77,320,624 (GRCm39)	missense	probably damaging	1.00
R4919:Ssh2	UTSW	11	77,316,146 (GRCm39)	missense	possibly damaging	0.91
R5014:Ssh2	UTSW	11	77,346,102 (GRCm39)	nonsense	probably null
R5380:Ssh2	UTSW	11	77,344,771 (GRCm39)	missense	probably benign	0.01
R5574:Ssh2	UTSW	11	77,340,941 (GRCm39)	missense	probably benign
R5593:Ssh2	UTSW	11	77,312,192 (GRCm39)	missense	probably damaging	0.99
R5739:Ssh2	UTSW	11	77,340,639 (GRCm39)	missense	probably damaging	1.00
R6180:Ssh2	UTSW	11	77,344,291 (GRCm39)	missense	probably benign	0.43
R6542:Ssh2	UTSW	11	77,340,976 (GRCm39)	missense	possibly damaging	0.94
R6713:Ssh2	UTSW	11	77,340,259 (GRCm39)	missense	possibly damaging	0.89
R7108:Ssh2	UTSW	11	77,345,620 (GRCm39)	missense	probably benign
R7124:Ssh2	UTSW	11	77,345,164 (GRCm39)	missense	probably benign	0.00
R7255:Ssh2	UTSW	11	77,316,419 (GRCm39)	missense	probably damaging	1.00
R7332:Ssh2	UTSW	11	77,344,349 (GRCm39)	missense	possibly damaging	0.48
R7362:Ssh2	UTSW	11	77,340,476 (GRCm39)	missense	probably benign	0.01
R7395:Ssh2	UTSW	11	77,283,899 (GRCm39)	missense	probably damaging	0.99
R7412:Ssh2	UTSW	11	77,340,934 (GRCm39)	missense	probably damaging	0.98
R7493:Ssh2	UTSW	11	77,328,542 (GRCm39)	missense	probably benign	0.16
R7686:Ssh2	UTSW	11	77,316,150 (GRCm39)	missense	possibly damaging	0.89
R7870:Ssh2	UTSW	11	77,344,441 (GRCm39)	missense	probably benign
R7895:Ssh2	UTSW	11	77,345,452 (GRCm39)	missense	probably benign	0.41
R7963:Ssh2	UTSW	11	77,312,182 (GRCm39)	missense	possibly damaging	0.93
R8030:Ssh2	UTSW	11	77,345,332 (GRCm39)	missense	probably benign	0.01
R8065:Ssh2	UTSW	11	77,332,811 (GRCm39)	missense	probably damaging	1.00
R8099:Ssh2	UTSW	11	77,345,755 (GRCm39)	nonsense	probably null
R8294:Ssh2	UTSW	11	77,345,027 (GRCm39)	missense	probably benign	0.08
R8464:Ssh2	UTSW	11	77,345,079 (GRCm39)	nonsense	probably null
R8469:Ssh2	UTSW	11	77,340,434 (GRCm39)	missense	probably benign	0.41
R8547:Ssh2	UTSW	11	77,340,533 (GRCm39)	missense	probably benign	0.10
R8677:Ssh2	UTSW	11	77,346,019 (GRCm39)	missense	possibly damaging	0.77
R8758:Ssh2	UTSW	11	77,344,843 (GRCm39)	missense	probably benign
R9029:Ssh2	UTSW	11	77,328,454 (GRCm39)	missense	probably damaging	1.00
R9030:Ssh2	UTSW	11	77,312,062 (GRCm39)	missense	possibly damaging	0.63
R9126:Ssh2	UTSW	11	77,346,102 (GRCm39)	nonsense	probably null
R9146:Ssh2	UTSW	11	77,328,502 (GRCm39)	missense	probably damaging	0.98
R9377:Ssh2	UTSW	11	77,298,974 (GRCm39)	missense	possibly damaging	0.95
R9483:Ssh2	UTSW	11	77,283,976 (GRCm39)	missense	possibly damaging	0.81
R9615:Ssh2	UTSW	11	77,316,203 (GRCm39)	missense	possibly damaging	0.48
RF018:Ssh2	UTSW	11	77,344,880 (GRCm39)	missense	probably damaging	0.99
X0017:Ssh2	UTSW	11	77,332,724 (GRCm39)	missense	probably damaging	1.00
Z1088:Ssh2	UTSW	11	77,340,321 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16