Mutagenetix > Incidental Mutation

Incidental Mutation 'R6873:Sh3bgr'

536278

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgr

Ensembl Gene

ENSMUSG00000040666

Gene Name

SH3-binding domain glutamic acid-rich protein

Synonyms

5430437A18Rik

MMRRC Submission

044970-MU

Accession Numbers

Essential gene?

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

Stock #

R6873 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96001670-96030133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 96007691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 19 (K19Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129010 (fasta)

Gene Model

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

AlphaFold

Q9WUZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000048770
AA Change: K19Q

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038110
Gene: ENSMUSG00000040666
AA Change: K19Q

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: K40Q

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116740
Gene: ENSMUSG00000040666
AA Change: K40Q

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 damaging
Transcript: ENSMUST00000132424
AA Change: K10Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120614
Gene: ENSMUSG00000040666
AA Change: K10Q

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: K19Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129010
Gene: ENSMUSG00000040666
AA Change: K19Q

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: K19Q

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126581
Gene: ENSMUSG00000040666
AA Change: K19Q

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,138 (GRCm39)	D123G	probably benign	Het
Agbl4	A	G	4: 111,423,856 (GRCm39)	D294G	possibly damaging	Het
Apob	G	T	12: 8,065,995 (GRCm39)	M4288I	probably benign	Het
Arnt	T	G	3: 95,381,886 (GRCm39)	F160V	probably damaging	Het
Atp5f1a	C	T	18: 77,863,540 (GRCm39)	R42*	probably null	Het
Bhlha15	A	G	5: 144,128,203 (GRCm39)	D105G	probably benign	Het
C6	A	G	15: 4,820,461 (GRCm39)	T491A	probably benign	Het
Calhm5	G	C	10: 33,968,448 (GRCm39)	R202G	probably damaging	Het
Caskin1	A	G	17: 24,723,153 (GRCm39)	E647G	probably benign	Het
Col11a2	A	G	17: 34,283,993 (GRCm39)	D1579G	unknown	Het
Dctn2	T	G	10: 127,112,105 (GRCm39)		probably null	Het
Eqtn	A	G	4: 94,815,258 (GRCm39)	V80A	probably damaging	Het
Etl4	A	G	2: 20,802,803 (GRCm39)		probably null	Het
Fbxo10	T	C	4: 45,041,787 (GRCm39)	D814G	possibly damaging	Het
Galnt10	A	G	11: 57,672,045 (GRCm39)	D445G	probably damaging	Het
Gm6309	T	C	5: 146,104,998 (GRCm39)	D305G	probably damaging	Het
Grap2	G	A	15: 80,527,874 (GRCm39)	V107I	probably damaging	Het
Igsf10	C	T	3: 59,235,865 (GRCm39)	A1439T	probably benign	Het
Krt5	G	A	15: 101,621,312 (GRCm39)		probably benign	Het
Lancl2	A	G	6: 57,699,642 (GRCm39)	I152M	possibly damaging	Het
Mast3	A	T	8: 71,239,236 (GRCm39)	C447*	probably null	Het
Mef2b	A	G	8: 70,618,957 (GRCm39)	I180V	probably benign	Het
Mon1b	T	C	8: 114,368,697 (GRCm39)	Y533H	probably damaging	Het
Mst1r	A	T	9: 107,788,843 (GRCm39)	H454L	possibly damaging	Het
Nhlrc4	G	A	17: 26,162,496 (GRCm39)	Q84*	probably null	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Nlrp6	T	C	7: 140,503,433 (GRCm39)	I513T	probably benign	Het
Or1j12	A	T	2: 36,343,508 (GRCm39)	I304F	probably benign	Het
Or2n1	A	T	17: 38,486,259 (GRCm39)	M95L	probably benign	Het
Or4c108	T	C	2: 88,803,768 (GRCm39)	T156A	probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pfkfb4	A	C	9: 108,839,403 (GRCm39)		probably null	Het
Setbp1	A	G	18: 78,902,774 (GRCm39)	S298P	probably benign	Het
Slc35c2	T	C	2: 165,124,729 (GRCm39)	D82G	possibly damaging	Het
Spata13	T	A	14: 60,929,406 (GRCm39)	D321E	probably benign	Het
Stab2	A	G	10: 86,697,230 (GRCm39)		probably null	Het
Sulf2	T	A	2: 165,931,195 (GRCm39)	I271F	probably damaging	Het
Sult2a5	A	T	7: 13,359,311 (GRCm39)	I96L	probably benign	Het
Sv2b	A	G	7: 74,855,954 (GRCm39)	F112S	probably damaging	Het
Sycp1	G	A	3: 102,748,296 (GRCm39)	T832I	probably benign	Het
Tm9sf2	A	T	14: 122,382,525 (GRCm39)	E179V	probably damaging	Het
Tmem209	A	G	6: 30,508,455 (GRCm39)	I66T	probably damaging	Het
Tspan10	T	C	11: 120,335,549 (GRCm39)	W220R	probably damaging	Het
Ttc39b	G	C	4: 83,164,513 (GRCm39)	N266K	probably damaging	Het
Uri1	A	T	7: 37,664,764 (GRCm39)	D309E	probably benign	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	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
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
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'- CGATCCTTTCTGATGGGAAGG -3'
(R):5'- AGAGGAATTTGCCACAACACTG -3'

Sequencing Primer
(F):5'- ATCCTTTCTGATGGGAAGGTGTGG -3'
(R):5'- GAGGAATTTGCCACAACACTGAATAC -3'

Posted On

2018-10-18