Mutagenetix > Incidental Mutation

Incidental Mutation 'R9715:Sh3bgrl2'

730407

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgrl2

Ensembl Gene

ENSMUSG00000032261

Gene Name

SH3 domain binding glutamic acid-rich protein like 2

Synonyms

A930014C21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9715 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83430391-83482345 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 83430513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000140951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113215] [ENSMUST00000188030] [ENSMUST00000188241]

AlphaFold

Q8BG73

Predicted Effect

probably null
Transcript: ENSMUST00000113215
AA Change: M1K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108841
Gene: ENSMUSG00000032261
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	1.3e-50	PFAM
Pfam:Glutaredoxin	21	76	1.2e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000188030
AA Change: M1K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140348
Gene: ENSMUSG00000032261
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	85	8.2e-36	PFAM
Pfam:Glutaredoxin	21	76	5.7e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000188241
AA Change: M1K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140951
Gene: ENSMUSG00000032261
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	2.1e-47	PFAM
Pfam:Glutaredoxin	21	76	1.1e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,359 (GRCm39)	V1323I	probably damaging	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,481,941 (GRCm39)	D99G	probably benign	Het
Ccdc17	T	A	4: 116,455,090 (GRCm39)	L215Q	probably damaging	Het
Cep350	A	G	1: 155,751,107 (GRCm39)	Y2022H	probably benign	Het
Cimip2c	G	C	5: 30,641,261 (GRCm39)	D170H	possibly damaging	Het
Cnbd2	T	C	2: 156,183,547 (GRCm39)	S338P	probably benign	Het
D5Ertd579e	A	T	5: 36,787,029 (GRCm39)	V113D	possibly damaging	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Ephb1	T	C	9: 101,848,384 (GRCm39)	N679S	probably damaging	Het
Faxc	T	C	4: 21,993,307 (GRCm39)	I317T	probably damaging	Het
Fgd5	T	C	6: 91,965,290 (GRCm39)	Y508H	possibly damaging	Het
Foxd2	G	T	4: 114,765,195 (GRCm39)	A275E	unknown	Het
Fut9	C	A	4: 25,620,679 (GRCm39)	S45I	probably benign	Het
Gm5148	T	C	3: 37,768,801 (GRCm39)	N140D	unknown	Het
Gpr37l1	C	T	1: 135,089,391 (GRCm39)	G225S	probably damaging	Het
Gramd1c	G	A	16: 43,825,840 (GRCm39)	S107L	possibly damaging	Het
Gtpbp2	A	G	17: 46,478,301 (GRCm39)	D483G		Het
Ik	G	A	18: 36,886,566 (GRCm39)	R346H	probably benign	Het
Ino80e	A	T	7: 126,461,098 (GRCm39)	Y50N	unknown	Het
Irag1	A	T	7: 110,470,640 (GRCm39)	S898T	possibly damaging	Het
Kbtbd2	A	G	6: 56,756,566 (GRCm39)	V390A	probably benign	Het
Limch1	A	C	5: 67,156,360 (GRCm39)	N276H	probably damaging	Het
Negr1	T	G	3: 156,774,936 (GRCm39)		probably null	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp14	G	A	7: 106,781,626 (GRCm39)	M274I	probably benign	Het
Nr1d1	T	C	11: 98,662,943 (GRCm39)	I17V	probably benign	Het
Or10ad1b	T	A	15: 98,124,902 (GRCm39)	D210V	probably damaging	Het
Or4k35	T	C	2: 111,100,623 (GRCm39)	I30V	probably benign	Het
Or5p64	A	G	7: 107,855,198 (GRCm39)	I49T	probably benign	Het
Ppip5k2	A	G	1: 97,677,312 (GRCm39)	V334A		Het
Ppp1r9a	G	A	6: 5,045,936 (GRCm39)	V467I	probably damaging	Het
Ppp2r2c	A	G	5: 37,097,488 (GRCm39)	I225V	possibly damaging	Het
Ptpro	A	T	6: 137,345,108 (GRCm39)	N38I	probably damaging	Het
Scn2a	C	A	2: 65,579,149 (GRCm39)	Q1495K	possibly damaging	Het
Scn7a	A	T	2: 66,519,902 (GRCm39)	Y1001N	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc25a12	C	T	2: 71,109,899 (GRCm39)	V516M	probably benign	Het
Sptbn4	A	G	7: 27,091,000 (GRCm39)	L1402P	probably damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Svop	A	G	5: 114,198,169 (GRCm39)	S135P	probably benign	Het
Sycp2	G	T	2: 178,035,957 (GRCm39)	D243E	probably damaging	Het
Tcerg1	T	C	18: 42,706,413 (GRCm39)	F1030S	probably damaging	Het
Tecta	T	A	9: 42,286,596 (GRCm39)	N687Y	probably damaging	Het
Tep1	A	T	14: 51,081,759 (GRCm39)	H1230Q		Het
Tfap2b	T	C	1: 19,284,373 (GRCm39)	S94P	probably damaging	Het
Tll2	C	A	19: 41,092,238 (GRCm39)	G533V	probably damaging	Het
Vmn2r55	A	G	7: 12,402,061 (GRCm39)	V409A	probably damaging	Het
Wdr41	A	G	13: 95,145,373 (GRCm39)	E194G	probably damaging	Het
Zan	G	T	5: 137,398,817 (GRCm39)	S4182R	unknown	Het
Zfpl1	T	C	19: 6,134,074 (GRCm39)	Y40C	probably damaging	Het
Znrf3	C	A	11: 5,232,454 (GRCm39)	R257L	possibly damaging	Het

Other mutations in Sh3bgrl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Sh3bgrl2	APN	9	83,459,607 (GRCm39)	missense	probably benign	0.01
IGL00950:Sh3bgrl2	APN	9	83,459,543 (GRCm39)	missense	probably damaging	1.00
R0119:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R0299:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R0499:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R1004:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1006:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1331:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1333:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1556:Sh3bgrl2	UTSW	9	83,476,751 (GRCm39)	missense	probably damaging	1.00
R5029:Sh3bgrl2	UTSW	9	83,430,542 (GRCm39)	missense	possibly damaging	0.94
R5328:Sh3bgrl2	UTSW	9	83,459,509 (GRCm39)	missense	probably benign	0.36
R7327:Sh3bgrl2	UTSW	9	83,430,542 (GRCm39)	missense	possibly damaging	0.94
R7651:Sh3bgrl2	UTSW	9	83,430,525 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TAATTCCCGTGAAGCAGGCG -3'
(R):5'- TCTAAACTCAGCAAAGGGCC -3'

Sequencing Primer
(F):5'- TCTGGGCGCCAAGGAAACTAC -3'
(R):5'- ACTGGCTCCCTTGGGTC -3'

Posted On

2022-10-06