Mutagenetix > Incidental Mutation

Incidental Mutation 'R8939:Sgcb'

680836

Institutional Source

Beutler Lab

Gene Symbol

Sgcb

Ensembl Gene

ENSMUSG00000029156

Gene Name

sarcoglycan, beta (dystrophin-associated glycoprotein)

Synonyms

beta-SG

MMRRC Submission

068712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73790092-73805080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73801661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 68 (I68N)

Ref Sequence

ENSEMBL: ENSMUSP00000079937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081170]

AlphaFold

P82349

Predicted Effect

probably damaging
Transcript: ENSMUST00000081170
AA Change: I68N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
AA Change: I68N

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	56	305	4.3e-67	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,225,162 (GRCm39)	V12A	probably benign	Het
Abcc12	A	G	8: 87,243,947 (GRCm39)	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,624,977 (GRCm39)	T473A	probably damaging	Het
Acsm1	A	T	7: 119,239,868 (GRCm39)	T271S	probably benign	Het
Adh6b	T	C	3: 138,055,397 (GRCm39)	I49T	probably benign	Het
Aff4	A	T	11: 53,263,231 (GRCm39)	T84S	probably benign	Het
Angptl7	G	A	4: 148,580,956 (GRCm39)	R280*	probably null	Het
Bhlhe23	T	A	2: 180,418,099 (GRCm39)	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,014,544 (GRCm39)		probably null	Het
Cfap45	C	G	1: 172,372,834 (GRCm39)	R510G	probably damaging	Het
Chl1	A	G	6: 103,642,868 (GRCm39)	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,896,870 (GRCm39)	T336S	probably benign	Het
Clpx	A	G	9: 65,231,519 (GRCm39)	K535E	probably benign	Het
Crybg3	T	C	16: 59,376,512 (GRCm39)	M1581V	probably benign	Het
Ddx4	A	T	13: 112,758,823 (GRCm39)	I246K	probably benign	Het
F7	G	T	8: 13,078,724 (GRCm39)	G52C	probably damaging	Het
Fam186b	T	C	15: 99,177,223 (GRCm39)	Q701R	probably benign	Het
Fign	T	A	2: 63,809,456 (GRCm39)	M605L	probably benign	Het
Fpr2	T	C	17: 18,113,883 (GRCm39)	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gria2	A	T	3: 80,618,170 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsto2	T	C	19: 47,873,203 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,299 (GRCm39)	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,266,888 (GRCm39)		probably null	Het
Ighv1-80	C	T	12: 115,876,113 (GRCm39)	G68R	probably damaging	Het
Il10ra	A	G	9: 45,177,802 (GRCm39)	V69A	unknown	Het
Klhdc1	C	T	12: 69,300,537 (GRCm39)	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,556,229 (GRCm39)	I166T	unknown	Het
Lce1h	A	T	3: 92,670,976 (GRCm39)	C59S	unknown	Het
Magi3	T	C	3: 103,996,748 (GRCm39)		probably benign	Het
Map3k1	G	T	13: 111,892,837 (GRCm39)	S806*	probably null	Het
Map3k6	T	A	4: 132,979,954 (GRCm39)		probably benign	Het
Mgam	G	A	6: 40,740,137 (GRCm39)		probably null	Het
Mtx1	A	G	3: 89,120,033 (GRCm39)	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,347,091 (GRCm39)	N356Y	probably damaging	Het
Myo16	T	C	8: 10,524,679 (GRCm39)	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,166,761 (GRCm39)	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,086,382 (GRCm39)	V28I	probably benign	Het
Or10h28	A	G	17: 33,488,589 (GRCm39)	K297R	probably damaging	Het
Or5b122	A	C	19: 13,562,860 (GRCm39)	N64T	probably damaging	Het
Pcmtd2	T	C	2: 181,496,863 (GRCm39)		probably benign	Het
Pcnx3	A	G	19: 5,730,347 (GRCm39)	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,571,319 (GRCm39)	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,926 (GRCm39)	V70A	probably damaging	Het
Psd2	G	A	18: 36,121,292 (GRCm39)	V421M	probably damaging	Het
Qng1	C	T	13: 58,532,875 (GRCm39)	A32T	probably damaging	Het
Rbak	C	T	5: 143,160,025 (GRCm39)	E343K	possibly damaging	Het
Rhbdf1	G	A	11: 32,160,093 (GRCm39)	A136V	probably benign	Het
Rusc1	T	A	3: 88,995,337 (GRCm39)	E231D	probably benign	Het
Rxfp1	T	C	3: 79,552,231 (GRCm39)	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,734,776 (GRCm39)	E88G	probably benign	Het
Sec23b	T	C	2: 144,411,137 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,364,433 (GRCm39)		probably benign	Het
Slc25a48	C	T	13: 56,611,519 (GRCm39)	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,311,895 (GRCm39)	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,598,763 (GRCm39)	S76L	probably damaging	Het
Spen	T	C	4: 141,202,969 (GRCm39)	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,649,549 (GRCm39)	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,238,228 (GRCm39)	L280M	probably damaging	Het
Stard10	A	G	7: 100,991,847 (GRCm39)	Y117C	probably damaging	Het
Stard13	A	T	5: 150,968,574 (GRCm39)		probably null	Het
Stim2	G	T	5: 54,262,673 (GRCm39)	R305L	possibly damaging	Het
Syt14	G	A	1: 192,612,896 (GRCm39)	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,381,483 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,575,695 (GRCm39)	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,473,023 (GRCm39)	T493A	probably benign	Het
Ugt2b34	A	G	5: 87,039,158 (GRCm39)	L501P	probably damaging	Het
Umod	T	C	7: 119,068,700 (GRCm39)	I449V	probably damaging	Het
Vmn2r51	C	A	7: 9,833,953 (GRCm39)	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,346,488 (GRCm39)	T2910P	probably benign	Het
Zscan20	A	G	4: 128,498,315 (GRCm39)	S28P	probably benign	Het

Other mutations in Sgcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Sgcb	APN	5	73,793,021 (GRCm39)	missense	possibly damaging	0.92
IGL02504:Sgcb	APN	5	73,801,718 (GRCm39)	missense	probably damaging	0.96
IGL03330:Sgcb	APN	5	73,797,212 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Sgcb	UTSW	5	73,797,155 (GRCm39)	missense	probably damaging	0.99
R0708:Sgcb	UTSW	5	73,798,225 (GRCm39)	splice site	probably null
R1016:Sgcb	UTSW	5	73,797,183 (GRCm39)	missense	probably benign	0.18
R1119:Sgcb	UTSW	5	73,801,757 (GRCm39)	missense	probably damaging	1.00
R1293:Sgcb	UTSW	5	73,792,870 (GRCm39)	missense	probably benign	0.13
R1464:Sgcb	UTSW	5	73,792,896 (GRCm39)	missense	probably benign	0.05
R1464:Sgcb	UTSW	5	73,792,896 (GRCm39)	missense	probably benign	0.05
R2762:Sgcb	UTSW	5	73,793,052 (GRCm39)	splice site	probably null
R5499:Sgcb	UTSW	5	73,801,748 (GRCm39)	missense	probably damaging	0.99
R6120:Sgcb	UTSW	5	73,798,153 (GRCm39)	missense	possibly damaging	0.62
R6809:Sgcb	UTSW	5	73,798,036 (GRCm39)	missense	probably benign	0.03
R7484:Sgcb	UTSW	5	73,797,188 (GRCm39)	missense	possibly damaging	0.86
R7647:Sgcb	UTSW	5	73,796,720 (GRCm39)	splice site	probably null
R8797:Sgcb	UTSW	5	73,793,036 (GRCm39)	missense	probably benign	0.00
R9394:Sgcb	UTSW	5	73,801,653 (GRCm39)	missense	probably benign	0.00
Z1177:Sgcb	UTSW	5	73,801,628 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGGAGATGACAAACTGTCC -3'
(R):5'- AGACTAGAGCTGTTGCATTCTG -3'

Sequencing Primer
(F):5'- GGAGATGACAAACTGTCCCAAAAC -3'
(R):5'- GTTTTGTTTGTAGCAAGGGTCCAAC -3'

Posted On

2021-08-31