Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Sgce'

555401

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

PIT4445001 (G1)

Quality Score

135.008

Status

Not validated

Chromosome

Chromosomal Location

4674350-4747207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4689654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 429 (V429A)

Ref Sequence

ENSEMBL: ENSMUSP00000111240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004750] [ENSMUST00000090686] [ENSMUST00000101677] [ENSMUST00000115577] [ENSMUST00000115579] [ENSMUST00000126151] [ENSMUST00000133306]

AlphaFold

O70258

Predicted Effect

probably damaging
Transcript: ENSMUST00000004750
AA Change: V384A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: V384A

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	412	423	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090686
AA Change: V384A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: V384A

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	412	423	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101677
AA Change: V384A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: V384A

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	421	432	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115577
AA Change: V429A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: V429A

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
CADG	85	193	1.86e-10	SMART
low complexity region	457	468	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115579
AA Change: V393A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: V393A

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	421	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123907

SMART Domains

Protein: ENSMUSP00000120910
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	32	140	1.86e-10	SMART
low complexity region	395	406	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126151
AA Change: V352A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: V352A

Domain	Start	End	E-Value	Type
CADG	26	134	1.86e-10	SMART
low complexity region	389	400	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133306
AA Change: V393A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: V393A

Domain	Start	End	E-Value	Type
CADG	26	134	1.86e-10	SMART
low complexity region	398	409	N/A	INTRINSIC

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460	M382V		Het
Agpat3	A	T	10: 78,274,093	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127	V99A	probably benign	Het
Asns	T	A	6: 7,689,277	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660	V1145A		Het
BC017158	A	G	7: 128,276,534	V243A	probably benign	Het
Ccdc171	A	G	4: 83,661,747	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970	L881I	probably damaging	Het
Dgkh	A	T	14: 78,575,942	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,904,267	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466	K581N	probably benign	Het
Gm7682	T	G	5: 94,448,507	W468G	probably benign	Het
Gria1	A	T	11: 57,185,838	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558		probably null	Het
Myo3a	A	T	2: 22,542,415	E813V	possibly damaging	Het
Myo7b	G	T	18: 31,959,466	Q2093K	possibly damaging	Het
Myo7b	T	C	18: 31,962,352	K1851R	probably damaging	Het
P3h2	T	A	16: 25,984,999	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777	F1046S	probably damaging	Het
Prkacb	A	T	3: 146,755,691	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020		probably null	Het
Rasl11b	C	A	5: 74,197,333	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,086,003	K407N	probably damaging	Het
Scrn3	G	A	2: 73,318,329	M81I	possibly damaging	Het
Scube2	T	C	7: 109,809,180	T687A	probably benign	Het
Serpinb10	T	A	1: 107,535,998	F3L	probably benign	Het
Sgcb	C	T	5: 73,639,812	V202I	probably damaging	Het
Sh3rf2	T	C	18: 42,153,164	V574A	probably benign	Het
Sncaip	T	C	18: 52,868,944	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807	Y125H		Het
Ttc23	T	G	7: 67,667,213	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226		probably null	Het
Vmn2r79	A	T	7: 87,002,200	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949	G26S	probably benign	Het
Zscan25	T	A	5: 145,290,612	V362D	probably damaging	Het

Other mutations in Sgce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Sgce	APN	6	4689750	missense	probably damaging	1.00
IGL01399:Sgce	APN	6	4746997	missense	probably damaging	1.00
IGL01796:Sgce	APN	6	4711326	missense	probably damaging	1.00
IGL02403:Sgce	APN	6	4694059	missense	probably damaging	1.00
IGL02421:Sgce	APN	6	4694187	splice site	probably benign
IGL02547:Sgce	APN	6	4711301	splice site	probably benign
IGL02585:Sgce	APN	6	4711388	splice site	probably benign
IGL03355:Sgce	APN	6	4689738	missense	probably damaging	1.00
IGL03374:Sgce	APN	6	4689718	nonsense	probably null
R0345:Sgce	UTSW	6	4718019	missense	probably damaging	1.00
R0611:Sgce	UTSW	6	4689621	missense	probably damaging	1.00
R0719:Sgce	UTSW	6	4689753	missense	probably damaging	1.00
R1162:Sgce	UTSW	6	4691419	splice site	probably benign
R1630:Sgce	UTSW	6	4719476	missense	probably damaging	0.98
R1694:Sgce	UTSW	6	4689709	missense	probably damaging	1.00
R1759:Sgce	UTSW	6	4689765	missense	probably damaging	1.00
R1897:Sgce	UTSW	6	4691511	missense	probably benign	0.00
R2231:Sgce	UTSW	6	4730066	missense	probably benign	0.44
R3429:Sgce	UTSW	6	4730008	missense	probably benign	0.01
R4011:Sgce	UTSW	6	4691563	nonsense	probably null
R4426:Sgce	UTSW	6	4691459	missense	probably damaging	0.97
R4427:Sgce	UTSW	6	4691459	missense	probably damaging	0.97
R4651:Sgce	UTSW	6	4689560	intron	probably benign
R4652:Sgce	UTSW	6	4689560	intron	probably benign
R4921:Sgce	UTSW	6	4694153	missense	probably damaging	1.00
R4974:Sgce	UTSW	6	4689630	missense	probably benign	0.00
R6271:Sgce	UTSW	6	4730015	missense	possibly damaging	0.81
R6898:Sgce	UTSW	6	4689666	missense	probably damaging	1.00
R7317:Sgce	UTSW	6	4691615	missense	probably benign	0.00
R7347:Sgce	UTSW	6	4694106	missense	probably damaging	1.00
R7512:Sgce	UTSW	6	4707192	missense	possibly damaging	0.75
R7671:Sgce	UTSW	6	4691564	missense	probably damaging	1.00
R8009:Sgce	UTSW	6	4691636	missense	probably damaging	0.99
R8378:Sgce	UTSW	6	4689760	missense	probably damaging	1.00
R8378:Sgce	UTSW	6	4691525	missense	probably benign	0.01
R8942:Sgce	UTSW	6	4730027	missense	probably benign
R9187:Sgce	UTSW	6	4711362	missense	probably benign	0.00
R9276:Sgce	UTSW	6	4674585	missense	probably damaging	1.00
R9334:Sgce	UTSW	6	4707205	missense	probably damaging	0.99
R9517:Sgce	UTSW	6	4694153	missense	probably damaging	1.00
X0026:Sgce	UTSW	6	4689638	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TACATTTCTGTCAAGCCAAGTGATG -3'
(R):5'- ACTCATTACGGCTAGTGCGTC -3'

Sequencing Primer
(F):5'- CAAGCCAAGTGATGATATTTTGACAC -3'
(R):5'- GGCTAGTGCGTCATTTTAAATATATG -3'

Posted On

2019-06-07