Mutagenetix > Incidental Mutation

Incidental Mutation 'R9144:Sh3bgr'

694522

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgr

Ensembl Gene

ENSMUSG00000040666

Gene Name

SH3-binding domain glutamic acid-rich protein

Synonyms

5430437A18Rik

MMRRC Submission

068935-MU

Accession Numbers

Essential gene?

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

Stock #

R9144 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96001670-96030133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96001931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 10 (S10T)

Ref Sequence

ENSEMBL: ENSMUSP00000038110 (fasta)

Gene Model

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

AlphaFold

Q9WUZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000048770
AA Change: S10T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666
AA Change: S10T

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

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

SMART Domains

Protein: ENSMUSP00000120614
Gene: ENSMUSG00000040666
AA Change: S1T

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: ENSMUST00000166952
AA Change: S10T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666
AA Change: S10T

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
AA Change: S10T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666
AA Change: S10T

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

0.0870

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,192,708 (GRCm39)	V176M	possibly damaging	Het
Acp5	T	C	9: 22,041,242 (GRCm39)	T62A	probably benign	Het
Alad	A	T	4: 62,430,257 (GRCm39)	D88E	probably damaging	Het
Arap1	T	C	7: 101,047,602 (GRCm39)	I803T	probably damaging	Het
Bckdhb	C	A	9: 83,894,662 (GRCm39)	T312K	probably damaging	Het
Cfap206	A	G	4: 34,722,667 (GRCm39)	V138A	possibly damaging	Het
Cntnap5b	A	G	1: 99,978,512 (GRCm39)	Y176C	probably damaging	Het
Creld1	A	T	6: 113,461,468 (GRCm39)	T63S	probably damaging	Het
Dsc1	G	A	18: 20,218,639 (GRCm39)	T878I	possibly damaging	Het
Ehbp1	C	T	11: 22,018,463 (GRCm39)	R873H	probably damaging	Het
Eml2	T	C	7: 18,935,564 (GRCm39)	V466A	possibly damaging	Het
Ercc5	T	A	1: 44,213,511 (GRCm39)	Y836N	probably damaging	Het
Fgf20	T	C	8: 40,732,958 (GRCm39)	D160G		Het
Fgfr4	A	T	13: 55,315,837 (GRCm39)		probably null	Het
Fpr1	A	T	17: 18,097,626 (GRCm39)	V121D	probably damaging	Het
Gabbr1	A	G	17: 37,362,049 (GRCm39)	K218E	probably benign	Het
Galnt12	T	C	4: 47,113,822 (GRCm39)	L372P		Het
Gldc	A	G	19: 30,114,593 (GRCm39)	F439S		Het
Gm6465	A	G	5: 11,896,726 (GRCm39)	T32A	possibly damaging	Het
Has2	T	C	15: 56,545,588 (GRCm39)	R5G	probably benign	Het
Hexb	T	C	13: 97,317,599 (GRCm39)	Y366C	probably damaging	Het
Ier2	C	T	8: 85,389,266 (GRCm39)	V39I	probably benign	Het
Ifi214	A	G	1: 173,355,434 (GRCm39)	S125P	possibly damaging	Het
Kcnk15	A	G	2: 163,700,451 (GRCm39)	D230G	probably benign	Het
Kdm3b	A	T	18: 34,927,558 (GRCm39)	Y140F	probably benign	Het
Klk1b11	T	C	7: 43,427,055 (GRCm39)	V140A	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Ltbp2	T	C	12: 84,856,426 (GRCm39)	I699M	probably damaging	Het
Mak	C	A	13: 41,201,594 (GRCm39)	E256*	probably null	Het
Mark3	C	A	12: 111,606,376 (GRCm39)	N496K	probably benign	Het
Mex3c	A	G	18: 73,723,397 (GRCm39)	T497A	probably benign	Het
Myt1	A	G	2: 181,467,805 (GRCm39)	I1160V	possibly damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nsg1	A	G	5: 38,302,088 (GRCm39)	Y108H	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	A	G	11: 58,960,103 (GRCm39)	S3255P	possibly damaging	Het
Or5w18	A	G	2: 87,633,482 (GRCm39)	T246A	probably benign	Het
Plxna4	A	G	6: 32,162,496 (GRCm39)	V1339A	possibly damaging	Het
Ppp2r5e	C	T	12: 75,506,468 (GRCm39)	R433H	possibly damaging	Het
Pwwp2a	T	A	11: 43,596,721 (GRCm39)	C629S	probably benign	Het
Rasl10a	T	A	11: 5,008,473 (GRCm39)	S56R	probably benign	Het
Rhob	A	G	12: 8,549,124 (GRCm39)	V170A	probably damaging	Het
Rlf	A	T	4: 121,003,900 (GRCm39)	N1803K	probably benign	Het
Rmdn3	G	T	2: 118,969,847 (GRCm39)	Q405K	probably benign	Het
Rpap3	G	A	15: 97,589,184 (GRCm39)	T250M	possibly damaging	Het
Rraga	T	C	4: 86,494,796 (GRCm39)	I214T	probably damaging	Het
Rundc3a	A	T	11: 102,290,862 (GRCm39)	Q315L	probably benign	Het
Skint6	A	T	4: 112,985,102 (GRCm39)	S421R	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Sppl2a	A	G	2: 126,769,743 (GRCm39)	S38P	probably benign	Het
Tex14	T	A	11: 87,413,423 (GRCm39)		probably null	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Traf3	T	A	12: 111,228,294 (GRCm39)	S502T	probably benign	Het
Trav9n-4	T	G	14: 53,532,236 (GRCm39)	V30G	probably damaging	Het
Trpm2	C	A	10: 77,765,122 (GRCm39)	V960L	probably benign	Het
Unc13b	T	A	4: 43,173,649 (GRCm39)	D1492E	unknown	Het
Usp44	A	G	10: 93,681,645 (GRCm39)	T32A	probably benign	Het
Vmn1r38	A	G	6: 66,753,612 (GRCm39)	M168T	probably benign	Het
Vmn1r9	A	G	6: 57,048,788 (GRCm39)	I288V	probably benign	Het
Zfhx3	A	G	8: 109,676,794 (GRCm39)	T2615A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGACATCCCAAACGGAG -3'
(R):5'- TTTTCCAACATCACGAAGACAG -3'

Sequencing Primer
(F):5'- CTCTTTAGCCTCTTGGTTGGAG -3'
(R):5'- TGCAGTTGACTCCCACA -3'

Posted On

2022-01-20