Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Sh3bgr'

543445

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgr

Ensembl Gene

ENSMUSG00000040666

Gene Name

SH3-binding domain glutamic acid-rich protein

Synonyms

MMRRC Submission

044687-MU

Accession Numbers

Essential gene?

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

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96200470-96228933 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 96205943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116740 (fasta)

Gene Model

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

AlphaFold

Q9WUZ7

Predicted Effect

probably null
Transcript: ENSMUST00000129904

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666

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 null
Transcript: ENSMUST00000129904

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666

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 null
Transcript: ENSMUST00000129904

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,258,982 (GRCm38)	V92A	possibly damaging	Het
Arhgap11a	A	T	2: 113,833,902 (GRCm38)	C679S	probably benign	Het
Atg4d	C	T	9: 21,268,460 (GRCm38)	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,371,912 (GRCm38)	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,492,086 (GRCm38)	H259L	probably benign	Het
Dennd3	A	T	15: 73,544,380 (GRCm38)	H493L	probably damaging	Het
Diexf	C	A	1: 193,118,390 (GRCm38)	R374L	probably damaging	Het
Dnm1	T	A	2: 32,312,726 (GRCm38)	D759V	probably damaging	Het
Dvl1	T	A	4: 155,856,253 (GRCm38)	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819 (GRCm38)	V2156A	probably benign	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Ermp1	T	C	19: 29,623,778 (GRCm38)	D523G	probably damaging	Het
Fam83c	A	G	2: 155,830,952 (GRCm38)	V295A	probably damaging	Het
Gphn	T	C	12: 78,680,396 (GRCm38)		probably null	Het
Irs1	T	A	1: 82,288,407 (GRCm38)	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,742,629 (GRCm38)	Y96C	probably damaging	Het
Krt77	G	T	15: 101,862,923 (GRCm38)	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,302,863 (GRCm38)		probably null	Het
Lama3	A	T	18: 12,537,766 (GRCm38)	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,486,395 (GRCm38)		probably null	Het
Ltbp4	A	T	7: 27,309,063 (GRCm38)	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,995,467 (GRCm38)	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,825,116 (GRCm38)	H167Q	probably benign	Het
Myo1g	T	A	11: 6,517,146 (GRCm38)	N230Y	possibly damaging	Het
Olfr57	A	T	10: 79,035,217 (GRCm38)	R140S	possibly damaging	Het
Prkar2b	G	T	12: 31,993,786 (GRCm38)		probably null	Het
Pwwp2a	G	T	11: 43,705,765 (GRCm38)	A586S	possibly damaging	Het
Ryr1	A	G	7: 29,095,492 (GRCm38)	V1150A	possibly damaging	Het
Slk	T	C	19: 47,636,469 (GRCm38)		probably null	Het
Snx3	A	G	10: 42,526,036 (GRCm38)	E82G	possibly damaging	Het
Srcin1	A	T	11: 97,534,774 (GRCm38)	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,929,087 (GRCm38)	E336G	probably benign	Het
Terf2ip	G	T	8: 112,018,202 (GRCm38)	V384F	probably damaging	Het
Tnn	T	A	1: 160,088,398 (GRCm38)	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,777,159 (GRCm38)	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,825,661 (GRCm38)	R932G	possibly damaging	Het
Vmn1r175	A	G	7: 23,808,605 (GRCm38)	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,502,501 (GRCm38)	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,804,178 (GRCm38)	N448Y	possibly 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
R5441:Sh3bgr	UTSW	16	96,205,917 (GRCm38)	missense	possibly damaging	0.68
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'- CCTTAGCCAGACTGGAACAAG -3'

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

Posted On

2018-12-21