Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03055:Ssh2'

453395

Institutional Source

Beutler Lab

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 #

IGL03055 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 77299021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 123 (Q123*)

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

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

AlphaFold

Q5SW75

Predicted Effect

probably null
Transcript: ENSMUST00000037912
AA Change: Q116*

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: Q116*

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: ENSMUST00000127890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180554

Predicted Effect

probably null
Transcript: ENSMUST00000181283
AA Change: Q123*

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: Q123*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (58/59)

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
2900041M22Rik	T	A	11: 117,503,072 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,092 (GRCm39)	S40R	probably benign	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Alkbh8	T	C	9: 3,345,882 (GRCm39)		probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Cchcr1	T	A	17: 35,837,516 (GRCm39)	M406K	probably benign	Het
Cdhr1	A	T	14: 36,817,054 (GRCm39)	D102E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Clec16a	T	A	16: 10,559,645 (GRCm39)	S973T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,145,515 (GRCm39)	Y1471H	probably damaging	Het
Dnah12	A	G	14: 26,594,697 (GRCm39)	Y3489C	probably damaging	Het
Ect2	T	C	3: 27,191,211 (GRCm39)	E464G	probably damaging	Het
Enpp2	C	A	15: 54,729,481 (GRCm39)		probably null	Het
Erich2	G	T	2: 70,339,529 (GRCm39)	C28F	possibly damaging	Het
Fam135b	A	T	15: 71,493,883 (GRCm39)	H15Q	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gfral	T	A	9: 76,115,831 (GRCm39)	T48S	probably benign	Het
Itga10	A	G	3: 96,557,836 (GRCm39)	E293G	probably damaging	Het
Lrp2	A	T	2: 69,288,792 (GRCm39)	N3691K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nefm	T	C	14: 68,360,358 (GRCm39)	T371A	probably damaging	Het
Nkain3	C	A	4: 20,778,308 (GRCm39)	C3F	probably benign	Het
Nol4l	G	C	2: 153,278,190 (GRCm39)		silent	Het
Nprl3	C	A	11: 32,198,230 (GRCm39)		probably benign	Het
Or52p1	A	T	7: 104,267,413 (GRCm39)	I176F	probably damaging	Het
Pate2	T	C	9: 35,523,069 (GRCm39)		probably benign	Het
Pde4d	A	G	13: 110,071,879 (GRCm39)	K128R	probably damaging	Het
Ptprt	A	G	2: 161,375,533 (GRCm39)	L1329P	probably damaging	Het
Rapgef3	T	C	15: 97,647,370 (GRCm39)		probably benign	Het
Rassf5	T	C	1: 131,172,732 (GRCm39)	I46V	probably benign	Het
Rin1	C	T	19: 5,103,187 (GRCm39)	T481I	probably benign	Het
Samd4b	A	G	7: 28,104,971 (GRCm39)	L524P	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,097,902 (GRCm39)		silent	Het
St18	G	T	1: 6,872,959 (GRCm39)	L231F	probably damaging	Het
Stk11	A	C	10: 79,963,920 (GRCm39)	D96A	probably damaging	Het
Svil	A	G	18: 5,108,615 (GRCm39)	T1918A	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tlr1	C	A	5: 65,083,939 (GRCm39)	V213F	probably benign	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Wnt6	G	A	1: 74,822,013 (GRCm39)	R198H	probably damaging	Het
Yipf2	A	T	9: 21,501,019 (GRCm39)	V98E	probably benign	Het
Zc3h15	A	G	2: 83,491,515 (GRCm39)	T248A	possibly damaging	Het
Zc3hav1	C	T	6: 38,293,251 (GRCm39)		probably null	Het
Zfp697	T	G	3: 98,332,810 (GRCm39)	C79G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GACTCTCTTGCCTTGGTGG -3'
(R):5'- CGCACAAACCTCATCCTCTT -3'

Sequencing Primer
(F):5'- GCATGCTATGAGATGCTGGCTTAAAG -3'
(R):5'- ACAAACCTCATCCTCTTACCTTCTAG -3'

Posted On

2017-02-03