Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02719:Ssh2'

304925

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?

Probably non essential (E-score: 0.241) question?

Stock #

IGL02719

Quality Score

Status

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77316413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 296 (N296I)

Ref Sequence

ENSEMBL: ENSMUSP00000042625 (fasta)

Gene Model

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

AlphaFold

Q5SW75

Predicted Effect

probably damaging
Transcript: ENSMUST00000037912
AA Change: N296I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: N296I

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

possibly damaging
Transcript: ENSMUST00000181283
AA Change: N302I

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: N302I

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,150 (GRCm39)	D160G	probably damaging	Het
Aak1	A	G	6: 86,936,152 (GRCm39)		probably benign	Het
Anp32e	A	G	3: 95,845,224 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,568,405 (GRCm39)	L61Q	probably damaging	Het
Btrc	A	G	19: 45,491,589 (GRCm39)	I89M	probably damaging	Het
Ccdc175	G	A	12: 72,221,899 (GRCm39)	T141M	probably damaging	Het
Cep70	G	A	9: 99,157,775 (GRCm39)	V225I	probably damaging	Het
Cilk1	A	G	9: 78,047,301 (GRCm39)	E67G	probably damaging	Het
Col4a1	T	C	8: 11,281,950 (GRCm39)		probably benign	Het
Cpne1	T	C	2: 155,920,137 (GRCm39)	Y214C	probably damaging	Het
Crtc3	T	C	7: 80,268,406 (GRCm39)		probably null	Het
Cul2	C	T	18: 3,434,052 (GRCm39)	A683V	probably damaging	Het
Ddx47	A	G	6: 134,994,114 (GRCm39)	N131D	probably benign	Het
Dnah7b	T	G	1: 46,138,768 (GRCm39)		probably benign	Het
Dnai2	T	C	11: 114,642,737 (GRCm39)	L446P	probably damaging	Het
Ergic2	T	C	6: 148,106,317 (GRCm39)	T58A	possibly damaging	Het
Erlin2	A	G	8: 27,519,703 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,742,113 (GRCm39)	T78A	probably damaging	Het
Flg2	G	T	3: 93,127,438 (GRCm39)	G97*	probably null	Het
Gm7356	A	G	17: 14,221,537 (GRCm39)	I164T	probably damaging	Het
Gucy1a2	T	A	9: 3,894,719 (GRCm39)		probably benign	Het
Heatr5b	C	T	17: 79,122,969 (GRCm39)	R670H	probably damaging	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Itpkc	A	T	7: 26,927,475 (GRCm39)	D146E	possibly damaging	Het
Kcnk3	T	C	5: 30,779,324 (GRCm39)	F125L	probably damaging	Het
Kif12	T	A	4: 63,086,033 (GRCm39)	M411L	probably benign	Het
Krtap24-1	T	C	16: 88,409,094 (GRCm39)	S11G	probably benign	Het
Lilra6	A	T	7: 3,915,991 (GRCm39)	H289Q	possibly damaging	Het
Musk	A	C	4: 58,356,496 (GRCm39)	N469H	probably benign	Het
Myom1	A	G	17: 71,413,349 (GRCm39)		probably benign	Het
Nagpa	A	G	16: 5,019,357 (GRCm39)	V46A	possibly damaging	Het
Or4k37	T	A	2: 111,159,590 (GRCm39)	Y275*	probably null	Het
Or5h25	T	A	16: 58,930,536 (GRCm39)	T146S	probably benign	Het
Or8g17	T	C	9: 38,930,312 (GRCm39)	N175S	probably benign	Het
Parp6	T	A	9: 59,538,021 (GRCm39)	V222E	probably benign	Het
Pde3b	T	A	7: 114,105,483 (GRCm39)	S472T	probably damaging	Het
Peak1	A	G	9: 56,134,490 (GRCm39)	S1314P	probably damaging	Het
Pgc	A	G	17: 48,039,792 (GRCm39)	Y62C	probably damaging	Het
Pitpnm2	A	G	5: 124,278,665 (GRCm39)	C189R	probably damaging	Het
Pla2g15	G	T	8: 106,886,828 (GRCm39)	Q106H	probably benign	Het
Pla2g4c	T	A	7: 13,064,019 (GRCm39)	S93T	probably damaging	Het
Rbks	G	T	5: 31,809,145 (GRCm39)		probably benign	Het
Retsat	A	G	6: 72,580,642 (GRCm39)	T207A	possibly damaging	Het
Slc25a32	A	G	15: 38,963,300 (GRCm39)	Y174H	probably benign	Het
Slc35f2	T	A	9: 53,717,026 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sos2	A	G	12: 69,663,958 (GRCm39)	Y476H	probably benign	Het
Sspo	G	T	6: 48,459,601 (GRCm39)	R3320L	probably benign	Het
Synj2	A	G	17: 6,047,192 (GRCm39)	I166V	probably benign	Het
Tpp2	T	C	1: 43,979,391 (GRCm39)	V96A	probably benign	Het
Vmn2r3	A	T	3: 64,183,031 (GRCm39)	W223R	probably damaging	Het
Wdr17	T	C	8: 55,146,089 (GRCm39)		probably null	Het
Zfr2	T	A	10: 81,080,546 (GRCm39)	C407S	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
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