Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Sh3bgrl2'

20985

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgrl2

Ensembl Gene

ENSMUSG00000032261

Gene Name

SH3 domain binding glutamic acid-rich protein like 2

Synonyms

A930014C21Rik

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

83430391-83482345 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83459612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 57 (K57E)

Ref Sequence

ENSEMBL: ENSMUSP00000140348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113215] [ENSMUST00000188030] [ENSMUST00000188241]

AlphaFold

Q8BG73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113215
AA Change: K57E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108841
Gene: ENSMUSG00000032261
AA Change: K57E

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	1.3e-50	PFAM
Pfam:Glutaredoxin	21	76	1.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185664

SMART Domains

Protein: ENSMUSP00000140380
Gene: ENSMUSG00000032261

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	58	1.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188030
AA Change: K57E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140348
Gene: ENSMUSG00000032261
AA Change: K57E

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	85	8.2e-36	PFAM
Pfam:Glutaredoxin	21	76	5.7e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188241
AA Change: K57E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140951
Gene: ENSMUSG00000032261
AA Change: K57E

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	2.1e-47	PFAM
Pfam:Glutaredoxin	21	76	1.1e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213703

Meta Mutation Damage Score

0.0891

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Sh3bgrl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Sh3bgrl2	APN	9	83,459,607 (GRCm39)	missense	probably benign	0.01
IGL00950:Sh3bgrl2	APN	9	83,459,543 (GRCm39)	missense	probably damaging	1.00
R0299:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R0499:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R1004:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1006:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1331:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1333:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1556:Sh3bgrl2	UTSW	9	83,476,751 (GRCm39)	missense	probably damaging	1.00
R5029:Sh3bgrl2	UTSW	9	83,430,542 (GRCm39)	missense	possibly damaging	0.94
R5328:Sh3bgrl2	UTSW	9	83,459,509 (GRCm39)	missense	probably benign	0.36
R7327:Sh3bgrl2	UTSW	9	83,430,542 (GRCm39)	missense	possibly damaging	0.94
R7651:Sh3bgrl2	UTSW	9	83,430,525 (GRCm39)	missense	possibly damaging	0.52
R9715:Sh3bgrl2	UTSW	9	83,430,513 (GRCm39)	start codon destroyed	probably null	0.92

Predicted Primers

PCR Primer
(F):5'- TCTGTCCTGGCCTAGACAATGAGAG -3'
(R):5'- GCCCTGAAAAGTGCTGCATGAAG -3'

Sequencing Primer
(F):5'- CAGGCTAATCTGCAAATGTGTG -3'
(R):5'- TGCTGCATGAAGGCACTG -3'

Posted On

2013-04-11