Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Ssh1'

597435

Institutional Source

Beutler Lab

Gene Symbol

Ssh1

Ensembl Gene

ENSMUSG00000042121

Gene Name

slingshot protein phosphatase 1

Synonyms

mSSH-1L, LOC384311

MMRRC Submission

045810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114075155-114131864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114104295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 116 (R116L)

Ref Sequence

ENSEMBL: ENSMUSP00000124312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077689] [ENSMUST00000112298] [ENSMUST00000159510] [ENSMUST00000159592] [ENSMUST00000162396]

AlphaFold

Q76I79

Predicted Effect

probably benign
Transcript: ENSMUST00000077689
AA Change: R73L

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: R73L

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

probably benign
Transcript: ENSMUST00000112298
AA Change: R116L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: R116L

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

probably benign
Transcript: ENSMUST00000159592
AA Change: R116L

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: R116L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162396
AA Change: R39L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	T	4: 88,786,496 (GRCm39)	W41R	unknown	Het
Aatf	G	A	11: 84,402,335 (GRCm39)	S117L	possibly damaging	Het
Abca12	C	A	1: 71,342,046 (GRCm39)	V972L	probably benign	Het
Abcb11	T	A	2: 69,117,162 (GRCm39)	R495S	probably damaging	Het
Acss2	T	A	2: 155,403,086 (GRCm39)	H621Q	probably benign	Het
Akap9	T	C	5: 4,096,736 (GRCm39)	L2537P	probably benign	Het
Apbb1	C	T	7: 105,208,509 (GRCm39)	A597T	probably damaging	Het
Cacna1d	A	T	14: 29,797,809 (GRCm39)	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,288,863 (GRCm39)	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,463,371 (GRCm39)	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,163,145 (GRCm39)	K331E	probably damaging	Het
Cplane1	C	A	15: 8,273,310 (GRCm39)	Q2534K	possibly damaging	Het
Cstpp1	A	T	2: 91,135,188 (GRCm39)		probably null	Het
D430041D05Rik	A	T	2: 104,087,504 (GRCm39)	Y491N	probably benign	Het
Dnah6	T	C	6: 73,002,703 (GRCm39)	I3898V	probably benign	Het
Drd2	A	G	9: 49,316,277 (GRCm39)	T346A	probably benign	Het
Efcab9	T	C	11: 32,472,941 (GRCm39)	T169A	possibly damaging	Het
Fam163a	A	T	1: 155,955,729 (GRCm39)	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,329,389 (GRCm39)	D457N	probably benign	Het
Fbn1	A	T	2: 125,321,200 (GRCm39)		probably null	Het
Gpr37	A	T	6: 25,689,049 (GRCm39)	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,330,175 (GRCm39)	D265G	probably benign	Het
Idh1	G	T	1: 65,198,649 (GRCm39)	A407D	probably benign	Het
Ifna12	A	G	4: 88,521,415 (GRCm39)	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,461,561 (GRCm39)	M109V	probably benign	Het
Jag2	A	T	12: 112,879,089 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,761 (GRCm39)	D572G	unknown	Het
Lcn11	G	A	2: 25,667,830 (GRCm39)	V73I	probably benign	Het
Lrba	A	G	3: 86,352,704 (GRCm39)	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,860,012 (GRCm39)		probably null	Het
Malrd1	G	A	2: 15,802,610 (GRCm39)		probably null	Het
Morc2b	C	A	17: 33,356,218 (GRCm39)	G518V	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Neto2	C	A	8: 86,396,329 (GRCm39)	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,488,467 (GRCm39)	V623I	probably damaging	Het
Optc	A	G	1: 133,834,730 (GRCm39)	S15P	possibly damaging	Het
Or1e25	C	T	11: 73,494,332 (GRCm39)	Q309*	probably null	Het
Or1l4b	A	G	2: 37,036,858 (GRCm39)	I211M	possibly damaging	Het
Or52e19b	C	A	7: 103,032,945 (GRCm39)	W88L	probably damaging	Het
Or7c19	T	A	8: 85,957,427 (GRCm39)	M101K	possibly damaging	Het
Or9k2	T	G	10: 129,998,698 (GRCm39)	T166P	probably damaging	Het
Otogl	A	G	10: 107,705,407 (GRCm39)	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,023 (GRCm39)	S5P	probably benign	Het
Pde3a	A	T	6: 141,404,975 (GRCm39)	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,449,804 (GRCm39)	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,443,695 (GRCm39)		probably null	Het
Plxna4	G	T	6: 32,129,807 (GRCm39)	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,140,904 (GRCm39)	V89A	probably benign	Het
Rapgef3	T	C	15: 97,655,627 (GRCm39)	D420G	probably damaging	Het
Rnf17	T	A	14: 56,699,529 (GRCm39)		probably null	Het
Rps6ka2	T	A	17: 7,544,848 (GRCm39)		probably null	Het
Rptn	A	T	3: 93,303,228 (GRCm39)	D187V	probably damaging	Het
Rtn1	T	C	12: 72,355,203 (GRCm39)	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,155,871 (GRCm39)	H101L	probably benign	Het
Septin3	A	G	15: 82,174,974 (GRCm39)	N305S	probably benign	Het
Serpina3f	G	T	12: 104,183,565 (GRCm39)	K142N	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tlr6	T	C	5: 65,111,693 (GRCm39)	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,098,634 (GRCm39)	A70T	probably benign	Het
Ttn	A	T	2: 76,618,540 (GRCm39)	I16248N	probably damaging	Het
Ttn	A	T	2: 76,655,849 (GRCm39)		probably null	Het
Vldlr	A	T	19: 27,195,015 (GRCm39)	M1L	probably benign	Het
Wscd1	A	G	11: 71,675,191 (GRCm39)	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,251,496 (GRCm39)		probably null	Het
Zfp827	T	C	8: 79,916,958 (GRCm39)	V511A		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
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
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'- CTCATGGCGGCAGGAAACTAAG -3'
(R):5'- CTCCTCACAAGCACTTGGTC -3'

Sequencing Primer
(F):5'- TGGGAAGACAGGCCCTATC -3'
(R):5'- ACAAGCACTTGGTCTTCATTTC -3'

Posted On

2019-11-26