Mutagenetix > Incidental Mutation

Incidental Mutation 'R1228:Sh3gl3'

175033

Institutional Source

Beutler Lab

Gene Symbol

Sh3gl3

Ensembl Gene

ENSMUSG00000030638

Gene Name

SH3-domain GRB2-like 3

Synonyms

Sh3d2c2, endophilin A3, EEN-B2, endophilin III, SH3P13, Sh3d2c

MMRRC Submission

039297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1228 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

81824581-81956618 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 81824723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000032874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032874] [ENSMUST00000177883] [ENSMUST00000177895] [ENSMUST00000179318]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032874
AA Change: M1V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032874
Gene: ENSMUSG00000030638
AA Change: M1V

Domain	Start	End	E-Value	Type
BAR	5	242	2.43e-89	SMART
SH3	288	343	5.77e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177883
AA Change: M1V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137207
Gene: ENSMUSG00000030638
AA Change: M1V

Domain	Start	End	E-Value	Type
Pfam:BAR	6	65	2.6e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000177895
AA Change: M1V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137570
Gene: ENSMUSG00000030638
AA Change: M1V

Domain	Start	End	E-Value	Type
Pfam:BAR	6	65	8.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179150

Predicted Effect

probably benign
Transcript: ENSMUST00000179318

SMART Domains

Protein: ENSMUSP00000137621
Gene: ENSMUSG00000030638

Domain	Start	End	E-Value	Type
BAR	1	207	1.23e-58	SMART
SH3	253	308	5.77e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180183

SMART Domains

Protein: ENSMUSP00000136482
Gene: ENSMUSG00000030638

Domain	Start	End	E-Value	Type
Pfam:BAR	1	153	3.8e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180243

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	A	17: 35,364,309 (GRCm39)	S863R	probably damaging	Het
Ccdc181	C	T	1: 164,113,960 (GRCm39)	R455*	probably null	Het
Clvs2	T	C	10: 33,498,600 (GRCm39)	N110S	probably benign	Het
Enpp1	T	A	10: 24,521,310 (GRCm39)	I806F	probably benign	Het
Entrep1	A	G	19: 23,956,829 (GRCm39)	S355P	probably benign	Het
Fli1	T	C	9: 32,335,139 (GRCm39)	Y431C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Klhl25	C	T	7: 75,515,868 (GRCm39)	A258V	probably benign	Het
Krt13	T	C	11: 100,012,303 (GRCm39)	S7G	probably benign	Het
Pakap	T	A	4: 57,856,909 (GRCm39)	I787N	probably damaging	Het
Pappa	T	C	4: 65,258,926 (GRCm39)	F1558S	probably damaging	Het
Phc3	A	T	3: 30,976,404 (GRCm39)	N721K	possibly damaging	Het
Plxna4	A	T	6: 32,201,087 (GRCm39)		probably null	Het
Rabac1	T	C	7: 24,671,523 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,511,837 (GRCm39)	D572G	probably null	Het
Rpia	T	C	6: 70,768,880 (GRCm39)	N85S	probably benign	Het
Skint6	T	C	4: 112,711,649 (GRCm39)	N956S	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Spata7	T	C	12: 98,600,528 (GRCm39)	L47P	probably damaging	Het
Tcea2	G	T	2: 181,326,238 (GRCm39)	V81F	probably benign	Het
Ttbk1	A	T	17: 46,787,638 (GRCm39)		probably null	Het
Vmn2r77	G	A	7: 86,450,242 (GRCm39)		probably null	Het

Other mutations in Sh3gl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Sh3gl3	APN	7	81,934,226 (GRCm39)	splice site	probably benign
IGL02989:Sh3gl3	APN	7	81,923,087 (GRCm39)	missense	probably benign	0.01
R1801:Sh3gl3	UTSW	7	81,933,327 (GRCm39)	missense	possibly damaging	0.95
R2109:Sh3gl3	UTSW	7	81,920,008 (GRCm39)	missense	possibly damaging	0.94
R5752:Sh3gl3	UTSW	7	81,824,696 (GRCm39)	intron	probably benign
R6881:Sh3gl3	UTSW	7	81,956,178 (GRCm39)	missense	possibly damaging	0.95
R7162:Sh3gl3	UTSW	7	81,933,350 (GRCm39)	missense	probably benign
R7570:Sh3gl3	UTSW	7	81,934,285 (GRCm39)	missense	probably benign
R7710:Sh3gl3	UTSW	7	81,933,294 (GRCm39)	missense	possibly damaging	0.83
R8029:Sh3gl3	UTSW	7	81,920,091 (GRCm39)	missense	probably benign	0.02
R8834:Sh3gl3	UTSW	7	81,955,999 (GRCm39)	missense	possibly damaging	0.91
R9641:Sh3gl3	UTSW	7	81,909,370 (GRCm39)	missense	probably damaging	1.00
R9733:Sh3gl3	UTSW	7	81,917,562 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGAAACACGGTGTTGCTATCTGC -3'
(R):5'- GCCAGCCGAACTGCTCAGATTTAC -3'

Sequencing Primer
(F):5'- TTGCTATCTGCGCGAGC -3'
(R):5'- TCAGATTTACAACCGCCAGGG -3'

Posted On

2014-04-24