Mutagenetix > Incidental Mutation

Incidental Mutation 'R3792:Sh3gl1'

272614

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56323750-56343635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56325949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 160 (K160R)

Ref Sequence

ENSEMBL: ENSMUSP00000003268 (fasta)

Gene Model

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

AlphaFold

Q62419

Predicted Effect

probably damaging
Transcript: ENSMUST00000003268
AA Change: K160R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200
AA Change: K160R

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

noncoding transcript
Transcript: ENSMUST00000131218

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

noncoding transcript
Transcript: ENSMUST00000159420

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	G	X: 80,464,423 (GRCm39)	V428A	probably benign	Het
Aanat	T	C	11: 116,487,057 (GRCm39)	L88P	probably damaging	Het
Arhgap5	A	T	12: 52,566,671 (GRCm39)	N1214I	probably benign	Het
BC034090	A	T	1: 155,117,543 (GRCm39)	S192T	probably damaging	Het
Bco1	G	A	8: 117,857,415 (GRCm39)	V461I	possibly damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cripto	C	T	9: 110,772,258 (GRCm39)	R46Q	probably benign	Het
Cubn	G	A	2: 13,432,725 (GRCm39)	R1199C	probably damaging	Het
Dcaf12l1	T	C	X: 43,877,313 (GRCm39)	N495S	possibly damaging	Het
Dop1b	C	A	16: 93,568,734 (GRCm39)	Q1599K	possibly damaging	Het
Dyrk1a	C	A	16: 94,485,933 (GRCm39)	L427I	probably benign	Het
Esp16	T	C	17: 39,848,739 (GRCm39)	I11T	possibly damaging	Het
Esyt3	A	T	9: 99,197,334 (GRCm39)	F832Y	possibly damaging	Het
F8	A	T	X: 74,328,971 (GRCm39)		probably null	Het
Fam135a	T	C	1: 24,067,392 (GRCm39)	Y259C	probably benign	Het
Fbxo38	T	C	18: 62,666,533 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,163,005 (GRCm39)	I67M	probably benign	Het
Gcfc2	G	T	6: 81,907,748 (GRCm39)	C154F	probably benign	Het
Hipk2	C	T	6: 38,675,491 (GRCm39)	R1029H	probably damaging	Het
Ilk	G	A	7: 105,391,294 (GRCm39)	W73*	probably null	Het
Ism1	T	C	2: 139,582,173 (GRCm39)	S162P	probably damaging	Het
Itpkb	T	A	1: 180,160,738 (GRCm39)	L288Q	possibly damaging	Het
Itpr2	C	A	6: 146,316,852 (GRCm39)	K306N	probably damaging	Het
Kdm2a	C	T	19: 4,374,540 (GRCm39)	E864K	possibly damaging	Het
Kdm4b	G	A	17: 56,662,944 (GRCm39)	V172M	probably damaging	Het
Kyat3	A	T	3: 142,443,605 (GRCm39)	K406M	probably null	Het
Lipe	T	A	7: 25,097,045 (GRCm39)	K299N	possibly damaging	Het
Lrrc2	T	A	9: 110,795,585 (GRCm39)	C123*	probably null	Het
Mptx2	T	A	1: 173,102,240 (GRCm39)	I150F	probably damaging	Het
Mroh2b	G	T	15: 4,953,102 (GRCm39)	W612L	probably damaging	Het
Mucl2	T	C	15: 103,928,692 (GRCm39)	T27A	possibly damaging	Het
Nfx1	T	A	4: 41,004,357 (GRCm39)	C709*	probably null	Het
Oprm1	T	C	10: 6,789,544 (GRCm39)	S390P	probably benign	Het
Or2m12	A	G	16: 19,104,696 (GRCm39)	S266P	possibly damaging	Het
Or51v8	A	T	7: 103,319,353 (GRCm39)	I295N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,715 (GRCm39)	L607P	probably damaging	Het
Rap1gds1	A	T	3: 138,671,721 (GRCm39)	I133N	probably damaging	Het
Rasl10a	T	C	11: 5,009,461 (GRCm39)	L83S	probably damaging	Het
Satb2	C	T	1: 56,884,779 (GRCm39)	V382M	probably damaging	Het
Sirt4	T	C	5: 115,618,351 (GRCm39)	D241G	probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spef2	A	G	15: 9,704,622 (GRCm39)	I454T	probably damaging	Het
Stag3	A	G	5: 138,296,611 (GRCm39)	K490E	probably benign	Het
Tcstv7b	G	T	13: 120,702,467 (GRCm39)	V88F	probably damaging	Het
Tctn3	T	C	19: 40,600,155 (GRCm39)	K95R	probably benign	Het
Trp53bp1	T	C	2: 121,030,810 (GRCm39)	I1784V	probably damaging	Het
Ttc21a	A	T	9: 119,783,231 (GRCm39)	E511V	probably damaging	Het
Ttn	A	G	2: 76,542,232 (GRCm39)	F25258L	probably damaging	Het
Ttn	A	C	2: 76,639,290 (GRCm39)	C13828G	probably damaging	Het
Vmn1r210	T	A	13: 23,011,573 (GRCm39)	M238L	probably damaging	Het
Vmn1r38	A	G	6: 66,753,891 (GRCm39)	I75T	probably benign	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwa7	T	C	17: 35,244,135 (GRCm39)		probably null	Het
Zfp128	T	A	7: 12,618,659 (GRCm39)	D52E	probably damaging	Het
Zfp618	T	C	4: 63,033,728 (GRCm39)		probably benign	Het
Zkscan2	T	A	7: 123,084,225 (GRCm39)	E633V	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
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
R8248:Sh3gl1	UTSW	17	56,326,038 (GRCm39)	critical splice donor site	probably null
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'- TCCTGGAGCTTCAACAAACC -3'
(R):5'- ACTCACTGGACATCGAGGTC -3'

Sequencing Primer
(F):5'- AGCCCCATCTTCCTAATGGGATAG -3'
(R):5'- CATCGAGGTCAAGCAGAACTTCATTG -3'

Posted On

2015-03-25