Mutagenetix > Incidental Mutation

Incidental Mutation 'R5877:Ssh1'

455593

Institutional Source

Beutler Lab

Gene Symbol

Ssh1

Ensembl Gene

ENSMUSG00000042121

Gene Name

slingshot protein phosphatase 1

Synonyms

mSSH-1L, LOC384311

MMRRC Submission

044083-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5877 (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 114081181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 728 (T728A)

Ref Sequence

ENSEMBL: ENSMUSP00000107917 (fasta)

Gene Model

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

AlphaFold

Q76I79

Predicted Effect

probably benign
Transcript: ENSMUST00000077689
AA Change: T707A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076873
Gene: ENSMUSG00000042121
AA Change: T707A

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: T728A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107917
Gene: ENSMUSG00000042121
AA Change: T728A

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: ENSMUST00000159592
AA Change: T750A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124312
Gene: ENSMUSG00000042121
AA Change: T750A

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

0.0598

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

97% (68/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,453,822 (GRCm39)	H213L	probably damaging	Het
Alk	A	G	17: 72,274,521 (GRCm39)	W597R	probably damaging	Het
Ark2n	G	T	18: 77,730,902 (GRCm39)		probably null	Het
Ash1l	G	A	3: 88,888,891 (GRCm39)	V257I	probably benign	Het
Atp9b	C	T	18: 80,796,004 (GRCm39)	V957I	probably benign	Het
Birc2	A	C	9: 7,849,347 (GRCm39)	C576G	probably damaging	Het
Brca2	T	C	5: 150,466,686 (GRCm39)	M2150T	possibly damaging	Het
C3ar1	T	G	6: 122,827,581 (GRCm39)	D212A	probably benign	Het
Cacna1s	T	C	1: 136,028,405 (GRCm39)	F914S	probably damaging	Het
Camk1d	T	C	2: 5,570,476 (GRCm39)	I62V	probably benign	Het
Caskin1	T	C	17: 24,724,239 (GRCm39)	M1009T	possibly damaging	Het
Casp2	A	G	6: 42,253,571 (GRCm39)		probably benign	Het
Cd2bp2	T	A	7: 126,793,971 (GRCm39)	Y106F	probably damaging	Het
Celsr3	G	A	9: 108,722,926 (GRCm39)	C2763Y	probably damaging	Het
Cyp2g1	T	G	7: 26,516,065 (GRCm39)	L310V	possibly damaging	Het
Dusp22	G	A	13: 30,891,944 (GRCm39)	V99M	probably damaging	Het
Elp1	A	T	4: 56,787,807 (GRCm39)	W375R	probably damaging	Het
Fam131b	G	A	6: 42,297,913 (GRCm39)	S92L	probably benign	Het
Fbxw10	A	T	11: 62,748,542 (GRCm39)	N390Y	probably damaging	Het
Flg2	A	T	3: 93,110,756 (GRCm39)	H928L	unknown	Het
Gapdhs	T	C	7: 30,431,772 (GRCm39)	T280A	probably damaging	Het
Hdac11	A	G	6: 91,134,524 (GRCm39)	K50E	probably damaging	Het
Hif3a	G	T	7: 16,785,071 (GRCm39)	A181E	probably damaging	Het
Itgb8	A	G	12: 119,166,271 (GRCm39)	S87P	probably benign	Het
Klhl12	T	A	1: 134,411,558 (GRCm39)	Y302*	probably null	Het
Lhx1	C	A	11: 84,413,065 (GRCm39)	D30Y	probably damaging	Het
Mrpl40	A	G	16: 18,691,135 (GRCm39)	Y148H	probably damaging	Het
Myh13	A	T	11: 67,244,484 (GRCm39)	H1007L	possibly damaging	Het
Nhlrc2	T	C	19: 56,559,016 (GRCm39)	I167T	probably damaging	Het
Nxpe3	A	T	16: 55,686,564 (GRCm39)	I148K	probably damaging	Het
Odf2l	A	G	3: 144,834,771 (GRCm39)		probably null	Het
Otud7b	C	T	3: 96,059,277 (GRCm39)	R347*	probably null	Het
P3h4	G	T	11: 100,304,843 (GRCm39)	H181Q	probably benign	Het
P4htm	T	A	9: 108,460,932 (GRCm39)	Y180F	possibly damaging	Het
Pcna-ps2	A	G	19: 9,261,463 (GRCm39)	I241V	probably benign	Het
Pcnx2	T	C	8: 126,480,467 (GRCm39)	S1947G	probably damaging	Het
Piezo2	T	C	18: 63,247,005 (GRCm39)	I336V	probably benign	Het
Plcd1	T	C	9: 118,905,240 (GRCm39)	D157G	probably damaging	Het
Plekhm2	A	C	4: 141,367,004 (GRCm39)	I212S	probably damaging	Het
Pmvk	G	T	3: 89,371,676 (GRCm39)	C57F	probably benign	Het
Pole	T	C	5: 110,480,329 (GRCm39)	S91P	probably benign	Het
Ppargc1b	C	G	18: 61,442,164 (GRCm39)	D591H	probably damaging	Het
Ppp4r3b	A	T	11: 29,159,356 (GRCm39)	D570V	probably damaging	Het
Pxdn	T	A	12: 30,053,045 (GRCm39)	I1074N	probably damaging	Het
Ralgapa2	A	T	2: 146,230,489 (GRCm39)	D1025E	probably damaging	Het
Ralgps1	A	G	2: 33,133,640 (GRCm39)		probably benign	Het
Rasal1	C	T	5: 120,817,135 (GRCm39)		probably benign	Het
Rps2	A	T	17: 24,939,890 (GRCm39)		probably benign	Het
Scn7a	G	C	2: 66,530,217 (GRCm39)	Y709*	probably null	Het
Skint1	T	A	4: 111,878,720 (GRCm39)	C217*	probably null	Het
Slc50a1	T	C	3: 89,176,460 (GRCm39)	Y82C	probably damaging	Het
Slc9a4	T	C	1: 40,651,423 (GRCm39)	V567A	probably benign	Het
Snx27	A	T	3: 94,410,270 (GRCm39)	W469R	probably damaging	Het
Sos2	A	G	12: 69,643,569 (GRCm39)	L937P	probably damaging	Het
Tnfrsf8	G	A	4: 145,019,257 (GRCm39)	R193C	probably benign	Het
Tut4	T	C	4: 108,370,120 (GRCm39)	V673A	probably damaging	Het
Usp33	T	A	3: 152,085,113 (GRCm39)	M583K	possibly damaging	Het
Usp33	G	A	3: 152,085,233 (GRCm39)	C623Y	probably damaging	Het
Wdfy3	T	C	5: 102,017,855 (GRCm39)	I2562V	probably damaging	Het
Wnk2	T	C	13: 49,220,782 (GRCm39)	D1175G	probably damaging	Het
Zfp341	G	A	2: 154,474,209 (GRCm39)	E338K	probably damaging	Het
Zfp398	A	G	6: 47,817,638 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,732,562 (GRCm39)	K661N	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
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
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'- TCTGCAGTTGGATGATGGACTC -3'
(R):5'- CATGTCACGTCTTCCCCAATGG -3'

Sequencing Primer
(F):5'- ATGATGGACTCCTGATGCTGCATC -3'
(R):5'- TTCCCCAATGGCCCACG -3'

Posted On

2017-02-10