Mutagenetix > Incidental Mutation

Incidental Mutation 'R2261:Ssh1'

243792

Institutional Source

Beutler Lab

Gene Symbol

Ssh1

Ensembl Gene

ENSMUSG00000042121

Gene Name

slingshot protein phosphatase 1

Synonyms

mSSH-1L, LOC384311

MMRRC Submission

040261-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114075155-114131864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114080764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 867 (S867G)

Ref Sequence

ENSEMBL: ENSMUSP00000107917 (fasta)

Gene Model

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

AlphaFold

Q76I79

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077689
AA Change: S846G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: S846G

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: S867G

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

SMART Domains

Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: S867G

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

possibly damaging
Transcript: ENSMUST00000159592
AA Change: S889G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: S889G

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

0.0632

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,288 (GRCm39)	M1384L	probably benign	Het
Ahdc1	A	G	4: 132,790,474 (GRCm39)	T572A	unknown	Het
Arhgap31	T	A	16: 38,429,639 (GRCm39)	Q412L	probably damaging	Het
Arsi	T	C	18: 61,049,737 (GRCm39)	Y207H	probably damaging	Het
Bco1	T	C	8: 117,859,764 (GRCm39)	L489S	probably damaging	Het
Cacna1g	T	A	11: 94,347,961 (GRCm39)	H709L	probably benign	Het
Cacna1h	T	C	17: 25,652,139 (GRCm39)	T2A	possibly damaging	Het
Casz1	G	T	4: 149,013,556 (GRCm39)	R40L	probably damaging	Het
Cdh23	A	G	10: 60,152,907 (GRCm39)	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,047,820 (GRCm39)	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,743,191 (GRCm39)	M142K	probably damaging	Het
Cfap69	C	A	5: 5,646,018 (GRCm39)	V561F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnajc3	A	G	14: 119,198,232 (GRCm39)	Q118R	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Fam184a	A	G	10: 53,523,666 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,016,098 (GRCm39)		probably null	Het
Flt3	G	A	5: 147,284,873 (GRCm39)	P748L	probably benign	Het
Gbp2b	G	A	3: 142,312,496 (GRCm39)	S293N	probably benign	Het
Gbp8	T	C	5: 105,163,999 (GRCm39)	Q433R	possibly damaging	Het
Gm12874	G	A	4: 122,487,533 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,713,722 (GRCm39)	F234L	probably damaging	Het
Gpr65	A	T	12: 98,241,494 (GRCm39)	N49I	probably damaging	Het
Grip1	G	A	10: 119,821,489 (GRCm39)	V385M	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Mast4	A	G	13: 102,934,715 (GRCm39)		probably benign	Het
Mia3	A	G	1: 183,115,647 (GRCm39)	Y295H	probably benign	Het
Morc3	T	A	16: 93,650,109 (GRCm39)		probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Npy2r	A	G	3: 82,448,346 (GRCm39)	V30A	possibly damaging	Het
Nsd2	A	T	5: 34,042,871 (GRCm39)	Q1045L	probably damaging	Het
Or51t4	T	C	7: 102,598,464 (GRCm39)	F254S	probably damaging	Het
Or5d40	T	A	2: 88,015,965 (GRCm39)	I248N	probably damaging	Het
Otub1	T	A	19: 7,176,861 (GRCm39)		probably null	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pdgfra	T	C	5: 75,346,184 (GRCm39)	V778A	probably benign	Het
Plekhm2	C	T	4: 141,370,043 (GRCm39)	E29K	probably damaging	Het
Ralgapa2	T	C	2: 146,184,603 (GRCm39)	N1468S	probably damaging	Het
Rnf111	T	C	9: 70,383,673 (GRCm39)	S87G	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,397,212 (GRCm39)	D109N	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc20a1	A	G	2: 129,048,394 (GRCm39)	R260G	possibly damaging	Het
Slk	T	C	19: 47,625,791 (GRCm39)	I1090T	probably damaging	Het
Spr-ps1	G	T	6: 85,132,945 (GRCm39)		noncoding transcript	Het
St18	T	A	1: 6,915,796 (GRCm39)	C814S	probably damaging	Het
Stmn2	T	C	3: 8,606,955 (GRCm39)	F25S	probably damaging	Het
Taar3	A	G	10: 23,826,053 (GRCm39)	I200V	probably benign	Het
Tmem184c	A	G	8: 78,323,672 (GRCm39)	Y397H	probably damaging	Het
Tmem184c	T	C	8: 78,323,804 (GRCm39)	T353A	probably damaging	Het
Tuba1c	A	G	15: 98,935,757 (GRCm39)	H406R	probably damaging	Het
Ubr4	T	C	4: 139,140,773 (GRCm39)	S1231P	probably damaging	Het
Ubr5	A	T	15: 37,988,528 (GRCm39)	D2143E	probably damaging	Het
Vmn2r6	T	C	3: 64,464,090 (GRCm39)	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Zfp37	A	T	4: 62,109,873 (GRCm39)	L397Q	probably damaging	Het
Zmym2	G	A	14: 57,165,719 (GRCm39)	E681K	probably damaging	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
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
R5120:Ssh1	UTSW	5	114,095,459 (GRCm39)	missense	possibly damaging	0.89
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'- AATGGGACCTTTTCAGCGGG -3'
(R):5'- ATCATCCAACTGCAGAAGGC -3'

Sequencing Primer
(F):5'- AGCCGCGTCTCGATCTC -3'
(R):5'- GCCTGGTCCGAAAGCACAC -3'

Posted On

2014-10-16