Mutagenetix > Incidental Mutation

Incidental Mutation 'R8758:Ssh2'

671749

Institutional Source

Beutler Lab

Gene Symbol

Ssh2

Ensembl Gene

ENSMUSG00000037926

Gene Name

slingshot protein phosphatase 2

Synonyms

SSH-2

MMRRC Submission

068598-MU

Accession Numbers

Essential gene?

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

Stock #

R8758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77344843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 943 (C943S)

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

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

AlphaFold

Q5SW75

Predicted Effect

probably benign
Transcript: ENSMUST00000037912
AA Change: C937S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: C937S

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 benign
Transcript: ENSMUST00000181283
AA Change: C943S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: C943S

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: 99.5%
20x: 98.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	G	A	4: 39,450,811 (GRCm39)	D6N	probably benign	Het
AC157566.4	T	C	15: 76,418,382 (GRCm39)	I42M	probably benign	Het
Amer2	C	T	14: 60,616,326 (GRCm39)	R174C	probably damaging	Het
Arl8a	A	T	1: 135,082,189 (GRCm39)	D139V	possibly damaging	Het
Csmd3	A	G	15: 47,469,593 (GRCm39)	Y2525H		Het
Cwc22	T	C	2: 77,747,441 (GRCm39)	E424G	possibly damaging	Het
D930048N14Rik	A	G	11: 51,544,568 (GRCm39)	T80A	unknown	Het
Ddx25	T	A	9: 35,453,300 (GRCm39)	E483D	probably benign	Het
Dock4	A	T	12: 40,838,231 (GRCm39)	E1057D	probably benign	Het
Dock7	C	T	4: 98,949,555 (GRCm39)	R429Q		Het
Dzip3	T	C	16: 48,798,300 (GRCm39)	Y135C	probably damaging	Het
Evi5l	G	T	8: 4,255,860 (GRCm39)	A618S	probably benign	Het
Fibp	A	G	19: 5,514,970 (GRCm39)	D348G	possibly damaging	Het
Gimd1	T	A	3: 132,340,799 (GRCm39)	L105H	probably damaging	Het
Glra1	T	A	11: 55,418,191 (GRCm39)	I268F	possibly damaging	Het
Gm30191	A	G	4: 133,977,099 (GRCm39)	T104A	probably benign	Het
Gm49359	A	T	13: 62,602,150 (GRCm39)	I350K	possibly damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Igkv4-74	AG	A	6: 69,162,311 (GRCm39)		probably null	Het
Ikzf1	A	G	11: 11,711,359 (GRCm39)	S198G	probably benign	Het
Kcna4	T	A	2: 107,126,494 (GRCm39)	D409E	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,705,977 (GRCm39)	D15E	probably benign	Het
Mmrn1	A	G	6: 60,964,193 (GRCm39)	D1065G	possibly damaging	Het
Plxnc1	A	C	10: 94,758,607 (GRCm39)	V363G	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg21	T	C	7: 18,384,678 (GRCm39)	Y356C	probably damaging	Het
Ranbp1	T	C	16: 18,059,659 (GRCm39)	D130G	probably damaging	Het
Rb1cc1	A	T	1: 6,310,451 (GRCm39)	Q283L	probably benign	Het
Rph3a	A	T	5: 121,097,365 (GRCm39)	H250Q	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Skil	C	T	3: 31,172,686 (GRCm39)	A605V	probably damaging	Het
Slc28a3	T	C	13: 58,720,424 (GRCm39)	T312A	probably benign	Het
Tgfbi	C	T	13: 56,779,894 (GRCm39)	A481V	probably damaging	Het
Tgfbr3	G	A	5: 107,297,750 (GRCm39)	P217S	probably damaging	Het
Tmem135	A	T	7: 88,954,721 (GRCm39)	W99R	probably benign	Het
Tmx1	A	G	12: 70,502,788 (GRCm39)	Y52C	possibly damaging	Het
Ube3b	A	T	5: 114,553,261 (GRCm39)		probably benign	Het
Vmn2r57	G	T	7: 41,078,163 (GRCm39)	N98K	probably damaging	Het
Vwa3b	A	G	1: 37,176,873 (GRCm39)	D40G		Het
Zfyve26	A	G	12: 79,311,083 (GRCm39)		probably benign	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
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
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'- CCACCCTGGAGTTTGAAGAG -3'
(R):5'- GATGGCCTGTGTGTCACATTCC -3'

Sequencing Primer
(F):5'- TTGAAGAGCGCTTGCGAC -3'
(R):5'- CCTGTGTGTCACATTCCTGGTTTG -3'

Posted On

2021-04-30