Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02993:Ssh2'

407030

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 #

IGL02993

Quality Score

Status

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77344370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 785 (T785I)

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

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

AlphaFold

Q5SW75

Predicted Effect

probably damaging
Transcript: ENSMUST00000037912
AA Change: T779I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: T779I

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

probably damaging
Transcript: ENSMUST00000181283
AA Change: T785I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: T785I

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,567,659 (GRCm39)	I434S	probably benign	Het
Actr2	C	T	11: 20,022,514 (GRCm39)	R319Q	probably damaging	Het
Atp13a5	G	T	16: 29,112,322 (GRCm39)	Y606*	probably null	Het
Baiap3	C	T	17: 25,469,056 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,227,396 (GRCm39)	Y8C	probably benign	Het
Ces1g	T	A	8: 94,043,707 (GRCm39)	M411L	probably benign	Het
Chd6	A	G	2: 160,894,304 (GRCm39)		probably benign	Het
Cyp2d40	C	A	15: 82,645,722 (GRCm39)	K94N	probably benign	Het
Ddx51	T	C	5: 110,803,487 (GRCm39)	V323A	possibly damaging	Het
Dock1	G	A	7: 134,346,027 (GRCm39)	V190I	probably benign	Het
Evc2	A	G	5: 37,576,501 (GRCm39)	T1042A	probably benign	Het
Fat4	T	A	3: 39,011,304 (GRCm39)	S2135T	probably damaging	Het
Gpat2	T	C	2: 127,269,486 (GRCm39)	F46S	probably damaging	Het
Klhl38	T	A	15: 58,185,851 (GRCm39)	K293*	probably null	Het
Map4k4	T	C	1: 40,053,348 (GRCm39)	I916T	probably damaging	Het
Nrap	T	A	19: 56,333,965 (GRCm39)	K964M	probably damaging	Het
Osbpl5	T	C	7: 143,253,071 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,302,236 (GRCm39)	Q260R	probably benign	Het
Ralgapb	T	A	2: 158,279,314 (GRCm39)	N133K	possibly damaging	Het
Scart2	A	G	7: 139,876,486 (GRCm39)	T537A	probably benign	Het
Slfn9	T	C	11: 82,872,022 (GRCm39)	S905G	probably benign	Het
Spata31g1	T	C	4: 42,971,719 (GRCm39)	Y351H	probably damaging	Het
Stk16	C	A	1: 75,189,648 (GRCm39)	Q69K	probably damaging	Het
Stk36	T	C	1: 74,661,446 (GRCm39)	L491P	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcp11	T	C	17: 28,289,490 (GRCm39)	N194D	probably damaging	Het
Trio	C	A	15: 27,830,325 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,069,850 (GRCm39)	V297A	possibly damaging	Het
Ugt2b5	T	G	5: 87,285,091 (GRCm39)	H282P	probably damaging	Het
Usp53	A	G	3: 122,727,492 (GRCm39)	M1030T	probably damaging	Het
Vmn1r234	T	A	17: 21,449,965 (GRCm39)	I293N	probably damaging	Het
Vmn2r57	T	A	7: 41,077,498 (GRCm39)	T223S	probably benign	Het
Wdr20	G	T	12: 110,760,742 (GRCm39)	E543*	probably null	Het
Zbtb25	T	A	12: 76,396,191 (GRCm39)	N344Y	probably damaging	Het
Zcchc2	T	C	1: 105,957,898 (GRCm39)	F790L	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
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
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

2016-08-02