Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Sh3gl1'

640404

Institutional Source

Beutler Lab

Gene Symbol

Sh3gl1

Ensembl Gene

ENSMUSG00000003200

Gene Name

SH3-domain GRB2-like 1

Synonyms

endophilin A2, EEN, endophilin II, Sh3d2b, SH3P8

MMRRC Submission

067675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56323750-56343635 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 56326038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003268] [ENSMUST00000149441] [ENSMUST00000159996] [ENSMUST00000162883]

AlphaFold

Q62419

Predicted Effect

probably null
Transcript: ENSMUST00000003268

SMART Domains

Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200

Domain	Start	End	E-Value	Type
BAR	5	242	1.05e-98	SMART
low complexity region	250	264	N/A	INTRINSIC
SH3	309	364	7.62e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149441

SMART Domains

Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	32	71	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
JAB_MPN	260	382	1.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153197

SMART Domains

Protein: ENSMUSP00000125535
Gene: ENSMUSG00000003199

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
Pfam:JAB	112	243	6.1e-11	PFAM
Pfam:Prok-JAB	125	258	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159340

SMART Domains

Protein: ENSMUSP00000125555
Gene: ENSMUSG00000003199

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	29	68	N/A	INTRINSIC
low complexity region	169	182	N/A	INTRINSIC
Blast:JAB_MPN	257	350	3e-55	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159996

SMART Domains

Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	32	71	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
JAB_MPN	260	382	1.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162883

SMART Domains

Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	32	71	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
Pfam:Prok-JAB	230	340	1.6e-8	PFAM
Pfam:JAB	236	311	1.7e-9	PFAM

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dnajb2	T	G	1: 75,220,226 (GRCm39)	D248E		Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Itsn2	T	C	12: 4,712,052 (GRCm39)	V913A	probably benign	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,960,586 (GRCm39)	T773I	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nudt7	A	G	8: 114,878,737 (GRCm39)	Y255C	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Syn3	T	A	10: 85,970,885 (GRCm39)	I246F	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Usp17le	G	T	7: 104,419,001 (GRCm39)	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	possibly damaging	Het

Other mutations in Sh3gl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Sh3gl1	APN	17	56,326,325 (GRCm39)	missense	possibly damaging	0.48
IGL02721:Sh3gl1	APN	17	56,324,577 (GRCm39)	missense	possibly damaging	0.91
feroce	UTSW	17	56,324,617 (GRCm39)	missense	possibly damaging	0.84
sauvage	UTSW	17	56,326,038 (GRCm39)	critical splice donor site	probably null
R0092:Sh3gl1	UTSW	17	56,325,088 (GRCm39)	missense	probably benign	0.00
R0525:Sh3gl1	UTSW	17	56,324,873 (GRCm39)	missense	probably benign	0.00
R3684:Sh3gl1	UTSW	17	56,325,953 (GRCm39)	missense	possibly damaging	0.91
R3792:Sh3gl1	UTSW	17	56,325,949 (GRCm39)	missense	probably damaging	1.00
R4282:Sh3gl1	UTSW	17	56,343,456 (GRCm39)	missense	probably damaging	1.00
R4298:Sh3gl1	UTSW	17	56,326,173 (GRCm39)	missense	probably damaging	1.00
R5868:Sh3gl1	UTSW	17	56,326,119 (GRCm39)	missense	probably damaging	1.00
R6304:Sh3gl1	UTSW	17	56,343,431 (GRCm39)	missense	probably benign	0.01
R6379:Sh3gl1	UTSW	17	56,326,143 (GRCm39)	missense	probably damaging	1.00
R6523:Sh3gl1	UTSW	17	56,324,617 (GRCm39)	missense	possibly damaging	0.84
R7146:Sh3gl1	UTSW	17	56,324,646 (GRCm39)	missense	probably damaging	1.00
R7174:Sh3gl1	UTSW	17	56,324,846 (GRCm39)	missense	probably benign	0.01
R7922:Sh3gl1	UTSW	17	56,326,438 (GRCm39)	missense	probably damaging	1.00
R8429:Sh3gl1	UTSW	17	56,325,821 (GRCm39)	missense	possibly damaging	0.94
R8460:Sh3gl1	UTSW	17	56,326,321 (GRCm39)	missense	probably benign	0.16
R9258:Sh3gl1	UTSW	17	56,325,911 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCCAGGAGGTTGTGCATAC -3'
(R):5'- GGAAGTCCTACCCATGACAG -3'

Sequencing Primer
(F):5'- GGACTCCTCGAACTTCTCTAGGG -3'
(R):5'- ATGACAGTCACCCCTCCCTG -3'

Posted On

2020-07-28