Mutagenetix > Incidental Mutation

Incidental Mutation 'R6542:Ssh2'

520864

Institutional Source

Beutler Lab

Gene Symbol

Ssh2

Ensembl Gene

ENSMUSG00000037926

Gene Name

slingshot protein phosphatase 2

Synonyms

SSH-2

MMRRC Submission

044668-MU

Accession Numbers

Essential gene?

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

Stock #

R6542 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 77340976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 709 (D709E)

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

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

AlphaFold

Q5SW75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037912
AA Change: D703E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: D703E

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

possibly damaging
Transcript: ENSMUST00000181283
AA Change: D709E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: D709E

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (47/48)

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
Aasdh	A	T	5: 77,030,902 (GRCm39)	L566Q	probably damaging	Het
Apbb1ip	C	T	2: 22,764,972 (GRCm39)	T551I	probably benign	Het
Aqp5	A	G	15: 99,492,143 (GRCm39)	E247G	probably damaging	Het
Bdkrb1	T	C	12: 105,571,352 (GRCm39)	F306S	probably damaging	Het
Clca3a1	C	T	3: 144,465,021 (GRCm39)	V71I	probably benign	Het
Cog4	A	G	8: 111,577,994 (GRCm39)	D36G	probably damaging	Het
Ctbp1	A	G	5: 33,426,915 (GRCm39)		probably benign	Het
Dync1li2	C	T	8: 105,169,396 (GRCm39)	G13D	probably benign	Het
F5	T	C	1: 164,022,037 (GRCm39)	V1504A	probably benign	Het
Fancm	T	C	12: 65,144,203 (GRCm39)	L555P	probably damaging	Het
Fgfr2	A	T	7: 129,802,853 (GRCm39)	S152T	probably benign	Het
Fign	A	T	2: 63,810,639 (GRCm39)	H210Q	possibly damaging	Het
Hbs1l	A	G	10: 21,180,516 (GRCm39)	N66S	probably benign	Het
Ighv12-3	A	T	12: 114,330,435 (GRCm39)	M20K	probably benign	Het
Isoc2b	T	C	7: 4,854,454 (GRCm39)	K26E	probably damaging	Het
Katnal1	C	T	5: 148,813,016 (GRCm39)	A467T	probably benign	Het
Loxl3	A	G	6: 83,025,147 (GRCm39)	T292A	probably benign	Het
Map3k9	A	G	12: 81,769,028 (GRCm39)	S1007P	possibly damaging	Het
Mcur1	A	T	13: 43,705,134 (GRCm39)	V174D	probably damaging	Het
Metrnl	A	C	11: 121,593,704 (GRCm39)		probably null	Het
Midn	A	G	10: 79,992,418 (GRCm39)	D490G	probably damaging	Het
Mmp10	G	A	9: 7,506,513 (GRCm39)	A330T	probably benign	Het
Mto1	T	A	9: 78,364,510 (GRCm39)	C281S	possibly damaging	Het
Nek10	A	G	14: 14,999,108 (GRCm38)	I1036V	probably benign	Het
Odad1	G	T	7: 45,597,814 (GRCm39)	A575S	probably benign	Het
Or13c7c	A	C	4: 43,835,686 (GRCm39)	L268R	probably benign	Het
Or1ab2	T	C	8: 72,863,715 (GRCm39)	F102L	probably damaging	Het
Or2b7	T	C	13: 21,739,677 (GRCm39)	T172A	probably damaging	Het
Or8b48	C	A	9: 38,450,733 (GRCm39)	L181I	probably benign	Het
Parp4	A	C	14: 56,885,339 (GRCm39)	I1473L	unknown	Het
Pcdhb9	A	G	18: 37,534,642 (GRCm39)	Y212C	probably damaging	Het
Pilra	G	T	5: 137,820,237 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,655,927 (GRCm39)	I202T	probably benign	Het
Ppfia2	A	T	10: 106,671,586 (GRCm39)	E432D	probably damaging	Het
Prom1	T	C	5: 44,194,851 (GRCm39)	D298G	possibly damaging	Het
Prr22	T	A	17: 57,077,527 (GRCm39)		probably null	Het
Septin2	T	A	1: 93,425,188 (GRCm39)		probably null	Het
Setdb1	C	A	3: 95,247,618 (GRCm39)	V426L	probably damaging	Het
Slc8b1	C	T	5: 120,667,582 (GRCm39)	A405V	probably damaging	Het
Srrm1	G	A	4: 135,068,237 (GRCm39)	R279*	probably null	Het
Tmprss9	A	G	10: 80,724,389 (GRCm39)	D373G	probably damaging	Het
Trpm3	T	C	19: 22,903,477 (GRCm39)	L921S	probably benign	Het
Ubqln3	T	C	7: 103,790,824 (GRCm39)	N422S	probably benign	Het
Vmn2r105	C	T	17: 20,448,803 (GRCm39)	V125I	probably benign	Het
Vmn2r69	A	T	7: 85,060,413 (GRCm39)	Y390*	probably null	Het
Zcwpw1	T	C	5: 137,810,282 (GRCm39)	F353L	probably damaging	Het
Zfp462	G	A	4: 55,023,433 (GRCm39)	C987Y	probably damaging	Het
Zkscan4	A	G	13: 21,668,508 (GRCm39)	S320G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCCATCTCAGATTTTAGTACAG -3'
(R):5'- GGTAAAGCTCAGTGGTGTAGC -3'

Sequencing Primer
(F):5'- CTTTCTCAAGAAACCCGG -3'
(R):5'- TAGCCTGGCTGAGCATGG -3'

Posted On

2018-06-06