Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01402:Sh3bgr'

278351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3bgr

Ensembl Gene

ENSMUSG00000040666

Gene Name

SH3-binding domain glutamic acid-rich protein

Synonyms

5430437A18Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01402

Quality Score

Status

Chromosome

Chromosomal Location

96001670-96030133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 96007690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 18 (K18N)

Ref Sequence

ENSEMBL: ENSMUSP00000126581 (fasta)

Gene Model

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

AlphaFold

Q9WUZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048770
AA Change: K18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666
AA Change: K18N

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 damaging
Transcript: ENSMUST00000123728
AA Change: K18N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116232
Gene: ENSMUSG00000040666
AA Change: K18N

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	4.7e-50	PFAM
Pfam:Glutaredoxin	21	76	6.2e-7	PFAM
low complexity region	107	128	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129904
AA Change: K39N

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

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666
AA Change: K39N

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

Predicted Effect

unknown
Transcript: ENSMUST00000132424
AA Change: K9N

SMART Domains

Protein: ENSMUSP00000120614
Gene: ENSMUSG00000040666
AA Change: K9N

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 damaging
Transcript: ENSMUST00000166952
AA Change: K18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666
AA Change: K18N

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 damaging
Transcript: ENSMUST00000171181
AA Change: K18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666
AA Change: K18N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Abca2	T	C	2: 25,332,015 (GRCm39)	S1376P	probably damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Akr1b7	A	G	6: 34,398,052 (GRCm39)	R294G	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
Alk	A	T	17: 72,181,173 (GRCm39)	H1372Q	probably damaging	Het
Ano9	A	C	7: 140,681,955 (GRCm39)	Y731*	probably null	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asl	T	C	5: 130,048,645 (GRCm39)	E43G	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa1	A	G	6: 30,645,275 (GRCm39)	H417R	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Dcaf15	A	T	8: 84,825,026 (GRCm39)	C469S	probably damaging	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
E4f1	A	T	17: 24,663,208 (GRCm39)	L699Q	probably damaging	Het
Eif4g2	A	G	7: 110,676,234 (GRCm39)	F349S	possibly damaging	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Frk	A	C	10: 34,423,381 (GRCm39)	E153A	probably damaging	Het
Fubp3	G	A	2: 31,494,733 (GRCm39)		probably null	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Hectd3	G	T	4: 116,853,262 (GRCm39)	R163L	probably damaging	Het
Hectd4	T	C	5: 121,477,480 (GRCm39)		probably benign	Het
Ifnb1	T	C	4: 88,440,480 (GRCm39)	R178G	probably benign	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Kdm5a	T	A	6: 120,367,640 (GRCm39)	L445*	probably null	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mlh3	A	T	12: 85,314,703 (GRCm39)	F494L	probably benign	Het
Mpped1	T	C	15: 83,676,414 (GRCm39)	F60S	possibly damaging	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Ncor1	C	A	11: 62,231,300 (GRCm39)	V836F	probably damaging	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Or10al4	A	G	17: 38,037,193 (GRCm39)	T93A	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Rnf144a	T	A	12: 26,377,300 (GRCm39)	Y93F	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sel1l	A	G	12: 91,808,607 (GRCm39)	S45P	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
St8sia6	T	C	2: 13,670,318 (GRCm39)	N214S	probably damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tcerg1l	A	T	7: 137,861,568 (GRCm39)	I387N	probably damaging	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,519 (GRCm39)	K307E	possibly damaging	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Tmem270	C	T	5: 134,930,763 (GRCm39)		probably benign	Het
Tnrc6b	G	T	15: 80,764,745 (GRCm39)	G749V	possibly damaging	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r107	A	T	17: 20,596,009 (GRCm39)	K854M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Wdr91	G	A	6: 34,865,998 (GRCm39)	P518L	probably benign	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het

Other mutations in Sh3bgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Sh3bgr	APN	16	96,007,690 (GRCm39)	missense	probably damaging	1.00
R0201:Sh3bgr	UTSW	16	96,029,717 (GRCm39)	unclassified	probably benign
R5042:Sh3bgr	UTSW	16	96,007,066 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16