Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03000:Ssh2'

407306

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 #

IGL03000

Quality Score

Status

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 77312032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

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

AlphaFold

Q5SW75

Predicted Effect

probably benign
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: 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
Abca12	T	C	1: 71,360,959 (GRCm39)	S445G	probably benign	Het
Abca5	C	T	11: 110,208,640 (GRCm39)	V226I	probably benign	Het
Ankrd34c	A	T	9: 89,611,239 (GRCm39)	D367E	probably benign	Het
Bmp6	G	T	13: 38,682,887 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Cblb	T	G	16: 52,024,905 (GRCm39)	D933E	probably damaging	Het
Ccny	A	G	18: 9,353,489 (GRCm39)	S95P	probably benign	Het
Cep192	A	G	18: 67,985,115 (GRCm39)	I1658V	probably damaging	Het
Cntn6	A	T	6: 104,781,347 (GRCm39)	T478S	probably damaging	Het
Cpne7	T	C	8: 123,853,435 (GRCm39)	F247L	probably benign	Het
Csf1r	A	G	18: 61,242,724 (GRCm39)	E29G	probably damaging	Het
Dctn3	T	A	4: 41,719,912 (GRCm39)	I65F	possibly damaging	Het
Dock1	A	G	7: 134,390,969 (GRCm39)	E743G	probably benign	Het
Dus2	C	A	8: 106,775,316 (GRCm39)	T281N	probably damaging	Het
Gbx1	G	T	5: 24,709,924 (GRCm39)	T307K	probably benign	Het
Gtf2ird2	A	T	5: 134,223,745 (GRCm39)	N93I	probably benign	Het
Heatr1	A	G	13: 12,449,292 (GRCm39)	D1930G	probably damaging	Het
Hif3a	T	C	7: 16,782,564 (GRCm39)	I334V	probably benign	Het
Ints1	G	T	5: 139,752,261 (GRCm39)	N756K	probably benign	Het
Kcnn2	T	C	18: 45,693,635 (GRCm39)	F404L	probably damaging	Het
Kmt2c	G	A	5: 25,489,170 (GRCm39)	R4590W	probably damaging	Het
Limk1	A	T	5: 134,699,355 (GRCm39)	V134E	probably damaging	Het
Mep1a	A	G	17: 43,785,881 (GRCm39)	V736A	probably benign	Het
Mex3a	T	A	3: 88,443,602 (GRCm39)	I226N	probably damaging	Het
Mgl2	A	T	11: 70,025,026 (GRCm39)	K16*	probably null	Het
Mms22l	G	T	4: 24,581,161 (GRCm39)	V864L	probably damaging	Het
Mroh4	T	A	15: 74,487,963 (GRCm39)	M320L	probably benign	Het
Mylk3	G	A	8: 86,085,806 (GRCm39)	P243S	probably damaging	Het
Nbea	A	C	3: 55,912,048 (GRCm39)	D1246E	possibly damaging	Het
Ndnf	A	G	6: 65,680,299 (GRCm39)	T193A	possibly damaging	Het
Nfasc	T	C	1: 132,549,247 (GRCm39)		probably benign	Het
Or6k8-ps1	A	G	1: 173,979,126 (GRCm39)	T15A	probably benign	Het
Ptprq	A	T	10: 107,378,518 (GRCm39)	F2008I	probably damaging	Het
Rhag	A	G	17: 41,139,413 (GRCm39)	K116R	probably benign	Het
Rictor	T	A	15: 6,798,721 (GRCm39)		probably benign	Het
Slc35f5	C	A	1: 125,502,479 (GRCm39)	T277N	probably damaging	Het
Sorcs2	A	G	5: 36,222,675 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,024,365 (GRCm39)	S830P	probably benign	Het
Trim30d	T	C	7: 104,122,476 (GRCm39)	T112A	probably benign	Het
Ttc34	T	C	4: 154,949,888 (GRCm39)	V947A	probably damaging	Het
Ttn	A	G	2: 76,642,953 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,025,096 (GRCm39)	V560D	probably damaging	Het
Ush2a	A	T	1: 188,282,053 (GRCm39)	E1856V	possibly damaging	Het
Zfp142	T	C	1: 74,612,777 (GRCm39)	M457V	probably benign	Het
Zfp711	C	T	X: 111,534,555 (GRCm39)	Q137*	probably null	Het
Zkscan17	T	C	11: 59,377,986 (GRCm39)	Y399C	probably damaging	Het
Zswim6	T	G	13: 107,863,649 (GRCm39)		noncoding transcript	Het
Zswim6	T	A	13: 107,863,650 (GRCm39)		noncoding transcript	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
IGL02322:Ssh2	APN	11	77,307,239 (GRCm39)	critical splice acceptor site	probably null
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
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

2016-08-02