Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Sh3bgr'

427205

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgr

Ensembl Gene

ENSMUSG00000040666

Gene Name

SH3-binding domain glutamic acid-rich protein

Synonyms

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96200470-96228933 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96205917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 29 (I29T)

Ref Sequence

ENSEMBL: ENSMUSP00000116740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048770] [ENSMUST00000129904] [ENSMUST00000166952] [ENSMUST00000171181]

AlphaFold

Q9WUZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000048770

SMART Domains

Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	1.9e-49	PFAM
low complexity region	120	138	N/A	INTRINSIC
low complexity region	160	212	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129904
AA Change: I29T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666
AA Change: I29T

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	30	119	8.2e-43	PFAM
low complexity region	141	159	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132424

SMART Domains

Protein: ENSMUSP00000120614
Gene: ENSMUSG00000040666

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	90	7.2e-45	PFAM
Pfam:Glutaredoxin	13	68	4.8e-7	PFAM
low complexity region	97	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000157060

SMART Domains

Protein: ENSMUSP00000116607
Gene: ENSMUSG00000040666

Domain	Start	End	E-Value	Type
low complexity region	41	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166952

SMART Domains

Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	1.9e-50	PFAM
Pfam:Glutaredoxin	21	76	8.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171181

SMART Domains

Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	1.9e-49	PFAM
low complexity region	120	138	N/A	INTRINSIC
low complexity region	160	212	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,156,914 (GRCm38)	T2042M	probably damaging	Het
Abca12	A	G	1: 71,295,056 (GRCm38)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,305,594 (GRCm38)	F261I	probably damaging	Het
Atm	C	A	9: 53,516,467 (GRCm38)	G448*	probably null	Het
Atmin	T	A	8: 116,957,957 (GRCm38)	D785E	probably damaging	Het
C87414	A	T	5: 93,636,597 (GRCm38)	M139K	possibly damaging	Het
Car1	G	C	3: 14,776,304 (GRCm38)	R90G	probably damaging	Het
Cdh11	T	C	8: 102,647,546 (GRCm38)	D520G	probably benign	Het
Cers5	T	A	15: 99,751,238 (GRCm38)	K50*	probably null	Het
Chad	A	T	11: 94,568,292 (GRCm38)	D340V	probably benign	Het
Cspg5	T	C	9: 110,246,643 (GRCm38)	I68T	probably benign	Het
Fcrla	T	A	1: 170,925,422 (GRCm38)		probably benign	Het
Fer1l4	T	A	2: 156,023,257 (GRCm38)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,735,417 (GRCm38)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,528,650 (GRCm38)		probably benign	Het
Hk3	T	C	13: 55,015,056 (GRCm38)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,406,416 (GRCm38)	E2677K	possibly damaging	Het
Hydin	T	C	8: 110,565,109 (GRCm38)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,312,794 (GRCm38)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,625,972 (GRCm38)	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,479,992 (GRCm38)		probably benign	Het
Msi2	G	A	11: 88,718,095 (GRCm38)		probably benign	Het
Napsa	T	A	7: 44,581,393 (GRCm38)		probably benign	Het
Nlrp4a	T	A	7: 26,454,153 (GRCm38)	L710M	probably damaging	Het
Olfr1025-ps1	T	A	2: 85,918,590 (GRCm38)	F222I	probably benign	Het
Olfr103	T	C	17: 37,336,268 (GRCm38)		probably null	Het
Olfr1510	T	A	14: 52,409,957 (GRCm38)	K305M	probably benign	Het
Olfr459	C	T	6: 41,771,848 (GRCm38)	M150I	probably benign	Het
Olfr522	T	C	7: 140,162,651 (GRCm38)	T100A	probably benign	Het
Plbd2	T	A	5: 120,499,082 (GRCm38)	Y105F	probably benign	Het
Plppr5	A	T	3: 117,662,471 (GRCm38)	I214F	possibly damaging	Het
Ptcd3	A	G	6: 71,881,521 (GRCm38)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,798,570 (GRCm38)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,719,623 (GRCm38)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,409,020 (GRCm38)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,666,797 (GRCm38)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,604,401 (GRCm38)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 34,013,157 (GRCm38)		probably benign	Het
Smg1	T	C	7: 118,195,081 (GRCm38)		probably benign	Het
Stim2	T	A	5: 54,075,370 (GRCm38)	C68*	probably null	Het
Syne2	G	A	12: 75,989,143 (GRCm38)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 165,153,680 (GRCm38)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,910,285 (GRCm38)	V353D	probably damaging	Het
Tg	T	A	15: 66,696,520 (GRCm38)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,979,783 (GRCm38)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,528,203 (GRCm38)	M373K	probably damaging	Het
Tmprss15	T	A	16: 79,071,447 (GRCm38)		probably null	Het
Tpd52	A	T	3: 9,003,406 (GRCm38)	Y16*	probably null	Het
Ube2o	G	A	11: 116,544,442 (GRCm38)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,943,703 (GRCm38)	F382L	probably benign	Het
Vav2	A	T	2: 27,270,110 (GRCm38)		probably benign	Het
Vmn1r207-ps	T	C	13: 22,726,516 (GRCm38)		noncoding transcript	Het
Zan	T	A	5: 137,436,751 (GRCm38)	I2127F	unknown	Het
Zfp748	C	A	13: 67,540,618 (GRCm38)	C841F	probably damaging	Het
Zic4	C	A	9: 91,384,200 (GRCm38)	P299Q	probably damaging	Het

Other mutations in Sh3bgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Sh3bgr	APN	16	96,206,490 (GRCm38)	missense	probably damaging	1.00
IGL01404:Sh3bgr	APN	16	96,206,490 (GRCm38)	missense	probably damaging	1.00
R0201:Sh3bgr	UTSW	16	96,228,517 (GRCm38)	unclassified	probably benign
R5042:Sh3bgr	UTSW	16	96,205,866 (GRCm38)	missense	probably benign	0.01
R5203:Sh3bgr	UTSW	16	96,224,520 (GRCm38)	unclassified	probably benign
R5434:Sh3bgr	UTSW	16	96,224,544 (GRCm38)	unclassified	probably benign
R6563:Sh3bgr	UTSW	16	96,205,943 (GRCm38)	splice site	probably null
R6869:Sh3bgr	UTSW	16	96,206,660 (GRCm38)	missense	probably damaging	1.00
R6873:Sh3bgr	UTSW	16	96,206,491 (GRCm38)	missense	probably damaging	1.00
R7260:Sh3bgr	UTSW	16	96,224,481 (GRCm38)	missense	unknown
R7373:Sh3bgr	UTSW	16	96,205,835 (GRCm38)	missense	unknown
R7382:Sh3bgr	UTSW	16	96,205,893 (GRCm38)	missense	probably benign	0.04
R7459:Sh3bgr	UTSW	16	96,205,922 (GRCm38)	missense	probably benign	0.02
R8241:Sh3bgr	UTSW	16	96,223,870 (GRCm38)	missense	unknown
R8268:Sh3bgr	UTSW	16	96,224,474 (GRCm38)	missense	unknown
R8396:Sh3bgr	UTSW	16	96,206,480 (GRCm38)	critical splice acceptor site	probably null
R8793:Sh3bgr	UTSW	16	96,224,592 (GRCm38)	critical splice donor site	probably null
R9144:Sh3bgr	UTSW	16	96,200,731 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTCTCCAAACTGTGACCCC -3'
(R):5'- TTAGCCAGACTGGAACAAGTG -3'

Sequencing Primer
(F):5'- AAACTGTGACCCCCTCCGTG -3'
(R):5'- ACCTGGCCTGGGAGATTG -3'

Posted On

2016-09-01