Mutagenetix > Incidental Mutation

Incidental Mutation 'R5042:Sh3bgr'

393273

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgr

Ensembl Gene

ENSMUSG00000040666

Gene Name

SH3-binding domain glutamic acid-rich protein

Synonyms

5430437A18Rik

MMRRC Submission

042632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96001670-96030133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96007066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

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

probably benign
Transcript: ENSMUST00000129904
AA Change: D12G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666
AA Change: D12G

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,273,927 (GRCm39)		noncoding transcript	Het
4933413J09Rik	C	A	14: 26,097,436 (GRCm39)		noncoding transcript	Het
Aldh1a2	A	G	9: 71,192,286 (GRCm39)	I413V	possibly damaging	Het
Alpk2	C	T	18: 65,483,579 (GRCm39)	W143*	probably null	Het
Anpep	G	T	7: 79,489,217 (GRCm39)	N318K	probably benign	Het
Art5	A	T	7: 101,748,672 (GRCm39)	L10H	probably damaging	Het
Atg2b	T	G	12: 105,587,521 (GRCm39)	H1981P	probably benign	Het
B3gnt3	T	C	8: 72,145,532 (GRCm39)	T279A	probably damaging	Het
Bmp10	G	T	6: 87,411,039 (GRCm39)	E277D	probably damaging	Het
Ccdc180	A	G	4: 45,916,255 (GRCm39)	T191A	probably damaging	Het
Dars2	T	A	1: 160,872,664 (GRCm39)		probably benign	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fndc7	A	T	3: 108,770,102 (GRCm39)	V608D	probably damaging	Het
Gad1-ps	A	T	10: 99,281,516 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,317,224 (GRCm39)	K527E	probably benign	Het
Gm10719	T	A	9: 3,018,970 (GRCm39)	F72I	probably damaging	Het
Hes3	T	A	4: 152,371,500 (GRCm39)	S150C	possibly damaging	Het
Hp1bp3	T	A	4: 137,949,419 (GRCm39)	M1K	probably null	Het
Il17rd	T	A	14: 26,817,998 (GRCm39)	V229E	probably damaging	Het
Iqch	A	G	9: 63,403,516 (GRCm39)	M634T	possibly damaging	Het
Magel2	C	T	7: 62,029,354 (GRCm39)	R753W	unknown	Het
Med26	A	G	8: 73,250,919 (GRCm39)	V60A	probably damaging	Het
Myo1d	T	A	11: 80,448,347 (GRCm39)	D926V	probably damaging	Het
Nat1	T	G	8: 67,944,228 (GRCm39)	D201E	probably benign	Het
Nav3	G	T	10: 109,605,129 (GRCm39)	S981R	probably benign	Het
Nbn	C	A	4: 15,981,446 (GRCm39)	L513M	probably benign	Het
Nfatc3	T	C	8: 106,834,757 (GRCm39)	V701A	probably benign	Het
Nlrp9a	A	G	7: 26,270,703 (GRCm39)	D911G	probably damaging	Het
Npr2	A	T	4: 43,647,002 (GRCm39)	I712F	probably damaging	Het
Oplah	G	A	15: 76,189,909 (GRCm39)	R235*	probably null	Het
Or10a48	A	G	7: 108,424,678 (GRCm39)	I176T	possibly damaging	Het
Pcdha11	T	A	18: 37,144,649 (GRCm39)	Y247N	probably damaging	Het
Pcdhga9	A	G	18: 37,870,630 (GRCm39)	Y153C	probably damaging	Het
Pkd1	A	T	17: 24,788,861 (GRCm39)	D873V	probably benign	Het
Pnpla1	A	G	17: 29,100,021 (GRCm39)	N296S	probably benign	Het
Ppfia3	A	G	7: 44,991,765 (GRCm39)	V839A	probably damaging	Het
Ppm1j	A	T	3: 104,690,036 (GRCm39)	Q148L	probably null	Het
Prune2	T	A	19: 17,097,161 (GRCm39)	N888K	possibly damaging	Het
Snph	T	A	2: 151,442,977 (GRCm39)	I35F	possibly damaging	Het
Spag17	A	T	3: 99,979,465 (GRCm39)	D1442V	probably damaging	Het
Spidr	T	C	16: 15,936,767 (GRCm39)	T113A	probably benign	Het
St13	A	T	15: 81,249,693 (GRCm39)	N349K	probably damaging	Het
Ttll6	C	T	11: 96,045,430 (GRCm39)	S549F	possibly damaging	Het
Uap1l1	A	T	2: 25,252,097 (GRCm39)	S473T	possibly damaging	Het
Vmn1r54	T	C	6: 90,246,422 (GRCm39)	V112A	possibly damaging	Het
Vmn2r57	G	A	7: 41,078,086 (GRCm39)	S124L	probably benign	Het
Wasf2	A	T	4: 132,903,875 (GRCm39)	R28W	probably benign	Het
Wwp2	T	A	8: 108,275,117 (GRCm39)	N417K	possibly damaging	Het
Zc3h13	A	T	14: 75,576,836 (GRCm39)	D1648V	probably damaging	Het

Other mutations in Sh3bgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Sh3bgr	APN	16	96,007,690 (GRCm39)	missense	probably damaging	1.00
IGL01404:Sh3bgr	APN	16	96,007,690 (GRCm39)	missense	probably damaging	1.00
R0201:Sh3bgr	UTSW	16	96,029,717 (GRCm39)	unclassified	probably benign
R5203:Sh3bgr	UTSW	16	96,025,720 (GRCm39)	unclassified	probably benign
R5434:Sh3bgr	UTSW	16	96,025,744 (GRCm39)	unclassified	probably benign
R5441:Sh3bgr	UTSW	16	96,007,117 (GRCm39)	missense	possibly damaging	0.68
R6563:Sh3bgr	UTSW	16	96,007,143 (GRCm39)	splice site	probably null
R6869:Sh3bgr	UTSW	16	96,007,860 (GRCm39)	missense	probably damaging	1.00
R6873:Sh3bgr	UTSW	16	96,007,691 (GRCm39)	missense	probably damaging	1.00
R7260:Sh3bgr	UTSW	16	96,025,681 (GRCm39)	missense	unknown
R7373:Sh3bgr	UTSW	16	96,007,035 (GRCm39)	missense	unknown
R7382:Sh3bgr	UTSW	16	96,007,093 (GRCm39)	missense	probably benign	0.04
R7459:Sh3bgr	UTSW	16	96,007,122 (GRCm39)	missense	probably benign	0.02
R8241:Sh3bgr	UTSW	16	96,025,070 (GRCm39)	missense	unknown
R8268:Sh3bgr	UTSW	16	96,025,674 (GRCm39)	missense	unknown
R8396:Sh3bgr	UTSW	16	96,007,680 (GRCm39)	critical splice acceptor site	probably null
R8793:Sh3bgr	UTSW	16	96,025,792 (GRCm39)	critical splice donor site	probably null
R9144:Sh3bgr	UTSW	16	96,001,931 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGCCACAGGATAAACAGCTC -3'
(R):5'- GGACAATGCCTTTCCTCTCTGG -3'

Sequencing Primer
(F):5'- AGGATAAACAGCTCTCCTTATCTC -3'
(R):5'- TCTGGTGGGTCCCCTCAC -3'

Posted On

2016-06-15