Mutagenetix > Incidental Mutation

Incidental Mutation 'R4499:Ssh2'

331761

Institutional Source

Beutler Lab

Gene Symbol

Ssh2

Ensembl Gene

ENSMUSG00000037926

Gene Name

slingshot protein phosphatase 2

Synonyms

SSH-2

MMRRC Submission

041752-MU

Accession Numbers

Essential gene?

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

Stock #

R4499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77107113-77351046 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 77283893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 49 (L49*)

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037912] [ENSMUST00000156488] [ENSMUST00000181283]

AlphaFold

Q5SW75

Predicted Effect

probably null
Transcript: ENSMUST00000037912
AA Change: L42*

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: L42*

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

probably null
Transcript: ENSMUST00000156488
AA Change: L69*

SMART Domains

Protein: ENSMUSP00000119681
Gene: ENSMUSG00000037926
AA Change: L69*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180554

Predicted Effect

probably null
Transcript: ENSMUST00000181283
AA Change: L49*

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: L49*

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (47/51)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,646 (GRCm39)	W948R	possibly damaging	Het
Ache	A	C	5: 137,290,194 (GRCm39)	M508L	probably damaging	Het
Adgrb2	A	T	4: 129,886,454 (GRCm39)	E198V	probably damaging	Het
Adgrl4	A	G	3: 151,216,422 (GRCm39)	N535S	possibly damaging	Het
Agbl3	T	C	6: 34,834,533 (GRCm39)	S906P	probably benign	Het
Akna	T	C	4: 63,313,278 (GRCm39)	T282A	probably benign	Het
Arfgef2	G	A	2: 166,727,734 (GRCm39)	V1561M	probably damaging	Het
Arfgef3	T	C	10: 18,484,091 (GRCm39)	D1388G	possibly damaging	Het
Asnsd1	A	G	1: 53,387,129 (GRCm39)	V166A	probably benign	Het
Bank1	T	C	3: 135,990,004 (GRCm39)	I29V	probably benign	Het
Bpifb5	A	T	2: 154,082,678 (GRCm39)	I484F	possibly damaging	Het
Camta2	T	C	11: 70,565,512 (GRCm39)	E788G	probably damaging	Het
Ccdc18	T	G	5: 108,376,826 (GRCm39)	S1422R	possibly damaging	Het
Cdc42bpg	C	T	19: 6,370,585 (GRCm39)	P1226L	possibly damaging	Het
Cep126	T	C	9: 8,101,589 (GRCm39)	N315S	possibly damaging	Het
Dcaf4	T	A	12: 83,586,134 (GRCm39)	L367Q	probably damaging	Het
Dcc	A	T	18: 71,680,388 (GRCm39)	V616D	probably benign	Het
Dennd4a	G	A	9: 64,817,405 (GRCm39)	D1680N	possibly damaging	Het
Dgkq	C	G	5: 108,797,527 (GRCm39)	E788D	possibly damaging	Het
Dpep2	T	C	8: 106,712,114 (GRCm39)	E282G	probably benign	Het
Gm8221	T	A	15: 77,510,245 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,757,146 (GRCm39)	S280G	possibly damaging	Het
Lrrc2	A	T	9: 110,791,713 (GRCm39)	Q155L	probably benign	Het
Mesd	G	A	7: 83,547,185 (GRCm39)	R216Q	probably benign	Het
Msh6	T	A	17: 88,287,697 (GRCm39)	N112K	probably damaging	Het
Myo15b	A	G	11: 115,781,778 (GRCm39)	E307G	probably benign	Het
Nod1	T	A	6: 54,920,981 (GRCm39)	N446Y	probably damaging	Het
Nrap	G	A	19: 56,339,913 (GRCm39)	T787I	probably damaging	Het
P2ry12	A	G	3: 59,125,078 (GRCm39)	I199T	probably damaging	Het
Prr11	T	G	11: 86,989,533 (GRCm39)	K279N	possibly damaging	Het
Psg25	C	T	7: 18,258,816 (GRCm39)	E287K	possibly damaging	Het
Rusc1	T	C	3: 88,999,615 (GRCm39)	S56G	probably benign	Het
Slc16a7	T	C	10: 125,064,056 (GRCm39)	N427S	probably damaging	Het
Slc47a1	T	A	11: 61,250,355 (GRCm39)	I341L	probably benign	Het
Slc9a8	T	A	2: 167,266,113 (GRCm39)	L30Q	probably benign	Het
Stard9	T	A	2: 120,530,722 (GRCm39)	D2326E	probably benign	Het
Thbs1	T	C	2: 117,950,431 (GRCm39)	I688T	possibly damaging	Het
Ttn	T	A	2: 76,746,822 (GRCm39)	E4742D	probably benign	Het
Vps37b	T	C	5: 124,145,689 (GRCm39)	I117V	probably damaging	Het
Xirp2	A	T	2: 67,343,782 (GRCm39)	M2008L	probably benign	Het
Zfp1005	T	G	2: 150,111,362 (GRCm39)	V684G	possibly damaging	Het
Zfp53	A	G	17: 21,729,497 (GRCm39)	E510G	probably damaging	Het
Zswim8	T	A	14: 20,764,365 (GRCm39)	S578R	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
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'- AATCTCTCCTCTTGAATTTGTTAGGA -3'
(R):5'- ACCACCAAATTTAAGGCAAAAGGT -3'

Sequencing Primer
(F):5'- TATATCCCAGAGTAGCCTTGAGC -3'
(R):5'- AAGACTCAGTCCACTTTGGG -3'

Posted On

2015-07-21