Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02745:Ssh2'

306113

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 #

IGL02745

Quality Score

Status

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77346233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1406 (T1406I)

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: T1400I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: T1400I

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: T1406I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: T1406I

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,282 (GRCm39)	E167G	probably benign	Het
Aldh1a1	A	G	19: 20,614,028 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,805,950 (GRCm39)	H152R	probably damaging	Het
Bpifb4	T	A	2: 153,789,141 (GRCm39)	L316Q	probably damaging	Het
C2cd5	A	T	6: 142,987,256 (GRCm39)	L155I	probably benign	Het
Chrdl2	T	A	7: 99,670,170 (GRCm39)	C98S	probably damaging	Het
Clnk	A	G	5: 38,893,662 (GRCm39)	S232P	probably benign	Het
Csf3	A	G	11: 98,593,303 (GRCm39)	D140G	probably damaging	Het
Dnah7b	T	A	1: 46,234,189 (GRCm39)		probably benign	Het
Fetub	T	C	16: 22,756,676 (GRCm39)	V259A	probably damaging	Het
Gga2	G	T	7: 121,607,592 (GRCm39)	R108S	probably damaging	Het
Hip1r	C	A	5: 124,129,002 (GRCm39)		probably null	Het
Hsd17b3	A	G	13: 64,234,990 (GRCm39)	F62L	probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Man1a	C	T	10: 53,853,206 (GRCm39)	R304Q	probably damaging	Het
Med17	A	G	9: 15,176,642 (GRCm39)		probably benign	Het
Mrgprb4	T	C	7: 47,848,106 (GRCm39)	Y274C	probably damaging	Het
Myh8	C	T	11: 67,188,327 (GRCm39)	T996I	possibly damaging	Het
Niban3	G	T	8: 72,057,682 (GRCm39)		probably null	Het
Nlrp4e	T	A	7: 23,020,716 (GRCm39)	L401Q	probably damaging	Het
Oas1h	G	A	5: 120,999,542 (GRCm39)	R9Q	probably benign	Het
Or4c111	A	G	2: 88,844,232 (GRCm39)	Y59H	probably damaging	Het
Or4d10b	C	T	19: 12,036,565 (GRCm39)	V184I	probably benign	Het
Or8g51	T	C	9: 38,609,494 (GRCm39)	H56R	probably damaging	Het
Otor	A	G	2: 142,923,076 (GRCm39)	D122G	possibly damaging	Het
Pcdh18	T	A	3: 49,710,340 (GRCm39)	Q325L	probably damaging	Het
Ppfibp1	T	C	6: 146,923,852 (GRCm39)		probably benign	Het
Pramel16	A	T	4: 143,677,294 (GRCm39)	L95Q	probably damaging	Het
Prlr	T	A	15: 10,328,680 (GRCm39)	I385N	possibly damaging	Het
Rap1gds1	A	G	3: 138,662,002 (GRCm39)	V418A	probably damaging	Het
Rdh1	A	T	10: 127,601,288 (GRCm39)	T279S	probably benign	Het
Slc17a3	C	A	13: 24,026,469 (GRCm39)	Q13K	probably benign	Het
Slc22a20	T	C	19: 6,022,901 (GRCm39)	N414S	probably damaging	Het
Slc4a1	C	A	11: 102,247,093 (GRCm39)	C498F	probably damaging	Het
Sp8	G	A	12: 118,813,326 (GRCm39)	G394S	probably damaging	Het
Stra6	T	A	9: 58,059,321 (GRCm39)	D561E	probably damaging	Het
Stxbp5l	G	A	16: 37,007,016 (GRCm39)	Q726*	probably null	Het
Synpo2	G	A	3: 122,907,261 (GRCm39)	T685I	probably damaging	Het
Tasor2	A	T	13: 3,635,140 (GRCm39)	S556T	probably benign	Het
Ttc27	A	G	17: 75,046,728 (GRCm39)	D263G	probably benign	Het
Ttn	G	A	2: 76,594,332 (GRCm39)	P18793S	possibly damaging	Het
Vmn2r109	A	G	17: 20,761,512 (GRCm39)	V615A	probably damaging	Het
Vmn2r76	T	G	7: 85,879,495 (GRCm39)	K268N	probably benign	Het
Zeb2	A	G	2: 44,884,487 (GRCm39)		probably benign	Het
Zfp286	C	A	11: 62,671,700 (GRCm39)	K124N	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
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