Mutagenetix > Incidental Mutation

Incidental Mutation 'R5120:Ssh1'

392919

Institutional Source

Beutler Lab

Gene Symbol

Ssh1

Ensembl Gene

ENSMUSG00000042121

Gene Name

slingshot protein phosphatase 1

Synonyms

mSSH-1L, LOC384311

MMRRC Submission

042708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5120 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

114075155-114131864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 114095459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 228 (V228L)

Ref Sequence

ENSEMBL: ENSMUSP00000076873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077689] [ENSMUST00000112298] [ENSMUST00000159510] [ENSMUST00000159592]

AlphaFold

Q76I79

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077689
AA Change: V228L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: V228L

Domain	Start	End	E-Value	Type
Pfam:DEK_C	208	261	1.1e-19	PFAM
DSPc	265	403	7.82e-47	SMART
low complexity region	490	503	N/A	INTRINSIC
low complexity region	654	669	N/A	INTRINSIC
low complexity region	686	704	N/A	INTRINSIC
low complexity region	732	748	N/A	INTRINSIC
low complexity region	874	892	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112298
AA Change: V249L

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: V249L

Domain	Start	End	E-Value	Type
low complexity region	13	22	N/A	INTRINSIC
Pfam:DEK_C	229	282	9.5e-20	PFAM
DSPc	286	424	7.82e-47	SMART
low complexity region	511	524	N/A	INTRINSIC
low complexity region	675	690	N/A	INTRINSIC
low complexity region	707	725	N/A	INTRINSIC
low complexity region	753	769	N/A	INTRINSIC
low complexity region	895	913	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159510

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159592
AA Change: V271L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: V271L

Domain	Start	End	E-Value	Type
low complexity region	13	22	N/A	INTRINSIC
Pfam:DEK_C	252	303	2.3e-17	PFAM
DSPc	308	446	7.82e-47	SMART
low complexity region	533	546	N/A	INTRINSIC
low complexity region	697	712	N/A	INTRINSIC
low complexity region	729	747	N/A	INTRINSIC
low complexity region	775	791	N/A	INTRINSIC
low complexity region	917	935	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

100% (97/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,101,061 (GRCm39)	H225R	probably benign	Het
Abcc9	T	A	6: 142,602,344 (GRCm39)	I690F	probably benign	Het
Acp4	A	T	7: 43,906,395 (GRCm39)	D52E	probably damaging	Het
Adam17	T	C	12: 21,393,020 (GRCm39)		probably benign	Het
Adamts15	T	C	9: 30,832,872 (GRCm39)	E221G	probably damaging	Het
Aoc2	A	G	11: 101,216,540 (GRCm39)	T208A	probably benign	Het
Apoa4	T	G	9: 46,154,035 (GRCm39)	I212S	probably damaging	Het
Bptf	A	T	11: 106,964,211 (GRCm39)	M1598K	probably damaging	Het
Camsap3	G	A	8: 3,650,680 (GRCm39)	R209Q	probably damaging	Het
Ccdc171	C	A	4: 83,476,763 (GRCm39)		probably benign	Het
Celsr2	G	C	3: 108,300,436 (GRCm39)	P2875A	probably benign	Het
Cenpb	A	G	2: 131,021,738 (GRCm39)	V20A	probably benign	Het
Cfap61	A	T	2: 145,985,080 (GRCm39)	K975*	probably null	Het
Cfhr4	T	C	1: 139,680,841 (GRCm39)	S226G	probably benign	Het
Col9a2	G	T	4: 120,896,969 (GRCm39)	A20S	unknown	Het
Crnn	A	T	3: 93,056,203 (GRCm39)	I330F	probably benign	Het
Csf3r	C	A	4: 125,929,620 (GRCm39)	P381Q	probably benign	Het
Csmd3	G	A	15: 48,536,891 (GRCm39)	Q104*	probably null	Het
Ctnna1	G	A	18: 35,315,607 (GRCm39)		probably null	Het
Cwf19l2	C	T	9: 3,418,761 (GRCm39)	Q183*	probably null	Het
Ddx60	T	C	8: 62,398,940 (GRCm39)	Y220H	probably benign	Het
Dhh	T	C	15: 98,796,038 (GRCm39)	Q39R	probably benign	Het
Dynlrb2	T	A	8: 117,242,437 (GRCm39)	I89N	possibly damaging	Het
Dytn	T	C	1: 63,662,202 (GRCm39)	E645G	probably benign	Het
Efcab7	A	G	4: 99,754,688 (GRCm39)	T287A	probably damaging	Het
Eogt	A	G	6: 97,111,276 (GRCm39)	V195A	probably benign	Het
Ep400	G	T	5: 110,904,224 (GRCm39)	P125Q	probably damaging	Het
Fasn	A	G	11: 120,702,217 (GRCm39)	V1815A	probably benign	Het
Gm5866	T	C	5: 52,740,224 (GRCm39)		noncoding transcript	Het
Gm8674	C	A	13: 50,055,984 (GRCm39)		noncoding transcript	Het
Gpat4	G	T	8: 23,670,218 (GRCm39)	H270Q	possibly damaging	Het
Grik5	A	G	7: 24,710,065 (GRCm39)	L890P	probably damaging	Het
Gsap	A	G	5: 21,474,934 (GRCm39)	N500S	probably damaging	Het
H2-M10.1	T	C	17: 36,636,048 (GRCm39)	D173G	probably benign	Het
Igfn1	T	A	1: 135,901,240 (GRCm39)	I413F	possibly damaging	Het
Ighv1-52	G	T	12: 115,109,406 (GRCm39)	H17N	probably benign	Het
Kcnu1	T	A	8: 26,424,516 (GRCm39)	D270E	possibly damaging	Het
Kif16b	A	C	2: 142,690,259 (GRCm39)	N274K	probably damaging	Het
Klk1b11	C	T	7: 43,648,446 (GRCm39)	T151I	probably benign	Het
Krtap13	A	G	16: 88,548,458 (GRCm39)	F10S	probably damaging	Het
Large1	A	T	8: 73,585,969 (GRCm39)	I379N	probably damaging	Het
Lhx8	T	C	3: 154,017,332 (GRCm39)	H301R	probably damaging	Het
Lrriq3	T	C	3: 154,835,021 (GRCm39)	V252A	probably benign	Het
Lysmd3	T	A	13: 81,817,311 (GRCm39)	I96N	probably damaging	Het
Mpeg1	C	T	19: 12,438,793 (GRCm39)	Q84*	probably null	Het
Myoz1	C	T	14: 20,700,722 (GRCm39)	G165D	probably benign	Het
Myt1	G	A	2: 181,439,413 (GRCm39)	V312I	probably benign	Het
Ndufb7	T	C	8: 84,293,606 (GRCm39)		probably benign	Het
Numa1	C	T	7: 101,626,644 (GRCm39)	T10M	probably damaging	Het
Or10d1b	T	A	9: 39,613,366 (GRCm39)	H233L	probably benign	Het
Or1e30	A	C	11: 73,677,790 (GRCm39)	I9L	probably benign	Het
Or2g7	A	T	17: 38,378,157 (GRCm39)	I32F	probably damaging	Het
Or4f14d	A	T	2: 111,960,903 (GRCm39)	D84E	probably damaging	Het
Or4k39	T	C	2: 111,239,585 (GRCm39)		noncoding transcript	Het
Osmr	A	T	15: 6,856,756 (GRCm39)	S464T	probably benign	Het
Pak5	G	A	2: 135,925,149 (GRCm39)	H718Y	probably damaging	Het
Pan2	T	A	10: 128,150,864 (GRCm39)		probably null	Het
Pik3r4	T	C	9: 105,546,208 (GRCm39)	S853P	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polr3gl	T	A	3: 96,485,795 (GRCm39)		probably benign	Het
Psd2	G	A	18: 36,112,863 (GRCm39)	R186Q	possibly damaging	Het
Psd4	T	C	2: 24,295,450 (GRCm39)	V868A	probably benign	Het
Ralgapa2	G	T	2: 146,254,004 (GRCm39)	T852K	probably benign	Het
Rbm43	T	C	2: 51,822,435 (GRCm39)		probably benign	Het
Rps6kl1	C	A	12: 85,186,122 (GRCm39)	G329C	probably damaging	Het
Scaf11	T	C	15: 96,317,423 (GRCm39)	T714A	probably benign	Het
Selenoo	C	A	15: 88,978,508 (GRCm39)	N310K	possibly damaging	Het
Sepsecs	T	C	5: 52,818,003 (GRCm39)	Q258R	probably damaging	Het
Sgcz	T	C	8: 37,993,420 (GRCm39)	S226G	probably benign	Het
Slfn5	A	G	11: 82,851,754 (GRCm39)	K627E	probably damaging	Het
Sos1	A	T	17: 80,715,677 (GRCm39)	F1027I	probably damaging	Het
Sugp1	C	A	8: 70,501,317 (GRCm39)	P65T	probably benign	Het
Tas2r106	T	A	6: 131,655,779 (GRCm39)	N24I	probably damaging	Het
Tex10	T	C	4: 48,459,272 (GRCm39)	E534G	possibly damaging	Het
Tmem182	C	T	1: 40,894,061 (GRCm39)	T192I	possibly damaging	Het
Traf7	T	A	17: 24,737,718 (GRCm39)	K51*	probably null	Het
Trap1	C	A	16: 3,861,952 (GRCm39)	R604L	probably damaging	Het
Trim6	T	A	7: 103,877,447 (GRCm39)	L179Q	probably damaging	Het
Ubfd1	T	C	7: 121,670,973 (GRCm39)	S264P	probably damaging	Het
Upk3bl	T	C	5: 136,093,045 (GRCm39)		probably benign	Het
Wdfy3	T	A	5: 102,015,972 (GRCm39)	Q2601L	possibly damaging	Het
Wdr89	A	G	12: 75,679,412 (GRCm39)	Y281H	probably damaging	Het
Zfp286	A	T	11: 62,671,551 (GRCm39)	M174K	probably benign	Het
Zmym1	T	C	4: 126,945,230 (GRCm39)		probably null	Het

Other mutations in Ssh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Ssh1	APN	5	114,080,637 (GRCm39)	missense	probably damaging	1.00
IGL01432:Ssh1	APN	5	114,096,883 (GRCm39)	missense	probably benign	0.31
IGL01933:Ssh1	APN	5	114,088,441 (GRCm39)	splice site	probably benign
IGL01951:Ssh1	APN	5	114,104,308 (GRCm39)	missense	possibly damaging	0.64
IGL02117:Ssh1	APN	5	114,084,541 (GRCm39)	nonsense	probably null
IGL02391:Ssh1	APN	5	114,080,578 (GRCm39)	missense	probably damaging	1.00
R0110:Ssh1	UTSW	5	114,084,766 (GRCm39)	missense	probably benign	0.00
R0469:Ssh1	UTSW	5	114,084,766 (GRCm39)	missense	probably benign	0.00
R0510:Ssh1	UTSW	5	114,084,766 (GRCm39)	missense	probably benign	0.00
R0682:Ssh1	UTSW	5	114,098,718 (GRCm39)	missense	probably damaging	1.00
R0863:Ssh1	UTSW	5	114,104,792 (GRCm39)	missense	probably damaging	1.00
R0939:Ssh1	UTSW	5	114,108,497 (GRCm39)	missense	probably damaging	1.00
R1539:Ssh1	UTSW	5	114,090,064 (GRCm39)	missense	probably damaging	1.00
R1716:Ssh1	UTSW	5	114,090,081 (GRCm39)	missense	possibly damaging	0.80
R1754:Ssh1	UTSW	5	114,093,906 (GRCm39)	missense	probably damaging	0.99
R1867:Ssh1	UTSW	5	114,081,512 (GRCm39)	missense	probably damaging	1.00
R2261:Ssh1	UTSW	5	114,080,764 (GRCm39)	missense	possibly damaging	0.94
R2262:Ssh1	UTSW	5	114,080,764 (GRCm39)	missense	possibly damaging	0.94
R2497:Ssh1	UTSW	5	114,096,919 (GRCm39)	missense	probably damaging	1.00
R3774:Ssh1	UTSW	5	114,104,783 (GRCm39)	missense	probably damaging	1.00
R3922:Ssh1	UTSW	5	114,080,769 (GRCm39)	missense	possibly damaging	0.52
R5283:Ssh1	UTSW	5	114,088,606 (GRCm39)	missense	probably damaging	1.00
R5810:Ssh1	UTSW	5	114,084,627 (GRCm39)	missense	probably benign	0.05
R5877:Ssh1	UTSW	5	114,081,181 (GRCm39)	missense	probably benign	0.29
R6140:Ssh1	UTSW	5	114,080,692 (GRCm39)	missense	probably benign	0.16
R6360:Ssh1	UTSW	5	114,099,408 (GRCm39)	splice site	probably null
R6612:Ssh1	UTSW	5	114,096,791 (GRCm39)	missense	probably benign	0.43
R6819:Ssh1	UTSW	5	114,084,851 (GRCm39)	missense	probably benign
R6855:Ssh1	UTSW	5	114,080,636 (GRCm39)	missense	probably damaging	1.00
R7389:Ssh1	UTSW	5	114,096,892 (GRCm39)	missense	probably benign	0.28
R7470:Ssh1	UTSW	5	114,080,488 (GRCm39)	missense	possibly damaging	0.63
R7568:Ssh1	UTSW	5	114,095,441 (GRCm39)	splice site	probably null
R7647:Ssh1	UTSW	5	114,081,019 (GRCm39)	missense	probably benign	0.00
R7649:Ssh1	UTSW	5	114,088,612 (GRCm39)	missense	probably benign	0.12
R7754:Ssh1	UTSW	5	114,104,295 (GRCm39)	missense	probably benign	0.31
R7887:Ssh1	UTSW	5	114,099,410 (GRCm39)	critical splice donor site	probably null
R8167:Ssh1	UTSW	5	114,090,051 (GRCm39)	missense	possibly damaging	0.49
R8289:Ssh1	UTSW	5	114,080,445 (GRCm39)	missense	probably benign	0.01
Z1177:Ssh1	UTSW	5	114,104,355 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCTGTGGTGAAGACAAACTCAC -3'
(R):5'- ATACCCTGTACCTGGGCAAG -3'

Sequencing Primer
(F):5'- GACAAACTCACGTGTGTGTG -3'
(R):5'- TACCTGGGCAAGCCACTGTC -3'

Posted On

2016-06-15