Mutagenetix > Incidental Mutation

Incidental Mutation 'R8460:Sh3gl1'

655243

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

067905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56323750-56343635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56326321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 109 (N109S)

Ref Sequence

ENSEMBL: ENSMUSP00000003268 (fasta)

Gene Model

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

AlphaFold

Q62419

Predicted Effect

probably benign
Transcript: ENSMUST00000003268
AA Change: N109S

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200
AA Change: N109S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
6030458C11Rik	T	C	15: 12,818,545 (GRCm39)		probably benign	Het
Abcb11	T	C	2: 69,154,381 (GRCm39)	M62V	possibly damaging	Het
Adgrf5	C	A	17: 43,750,699 (GRCm39)		probably benign	Het
Arhgap23	T	A	11: 97,343,197 (GRCm39)	V493D	probably damaging	Het
Atg9b	T	C	5: 24,591,966 (GRCm39)	K678E	probably damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Cd180	T	C	13: 102,839,354 (GRCm39)	L79P	probably damaging	Het
Celsr2	C	T	3: 108,304,093 (GRCm39)	S2350N	possibly damaging	Het
Cep85l	C	A	10: 53,225,313 (GRCm39)	R92L	probably benign	Het
Cyp21a1	T	C	17: 35,021,844 (GRCm39)	D241G	probably benign	Het
Dock2	C	A	11: 34,180,825 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,955,712 (GRCm39)	Y27H	probably damaging	Het
Gmnc	G	A	16: 26,779,204 (GRCm39)	L274F	probably benign	Het
Gpc2	A	T	5: 138,274,891 (GRCm39)	C283S	probably damaging	Het
Grm5	A	G	7: 87,252,249 (GRCm39)	I166M	probably damaging	Het
Ighv3-1	A	T	12: 113,928,056 (GRCm39)	L101*	probably null	Het
Impact	C	T	18: 13,109,564 (GRCm39)	S86L	probably benign	Het
Kif1b	C	T	4: 149,272,077 (GRCm39)	V1575I	possibly damaging	Het
Klhl6	A	G	16: 19,775,781 (GRCm39)	V259A	probably damaging	Het
Krt81	G	T	15: 101,361,493 (GRCm39)	A29E	probably damaging	Het
Ldah	A	G	12: 8,318,548 (GRCm39)	N219S	probably benign	Het
Map3k12	C	T	15: 102,410,032 (GRCm39)	R581Q	probably damaging	Het
Marveld3	T	C	8: 110,681,040 (GRCm39)	D285G	probably benign	Het
Mcpt2	A	G	14: 56,281,201 (GRCm39)	D135G	possibly damaging	Het
Megf6	T	A	4: 154,350,634 (GRCm39)	C1048*	probably null	Het
Megf9	A	T	4: 70,374,208 (GRCm39)	V276D	probably damaging	Het
Nfya	T	C	17: 48,698,974 (GRCm39)	H273R	possibly damaging	Het
Olah	T	A	2: 3,362,762 (GRCm39)	Q21H	probably damaging	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or51t4	T	A	7: 102,598,531 (GRCm39)	C286*	probably null	Het
Or7g21	T	C	9: 19,032,988 (GRCm39)	S243P	probably damaging	Het
Or8b47	A	T	9: 38,427,926 (GRCm39)		probably benign	Het
Or8k23	T	G	2: 86,186,198 (GRCm39)	H176P	probably damaging	Het
Or9s23	T	A	1: 92,501,268 (GRCm39)	M125K	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,278 (GRCm39)	L662Q	possibly damaging	Het
Pou4f3	T	C	18: 42,529,053 (GRCm39)	M332T	probably damaging	Het
Pramel19	C	T	4: 101,798,424 (GRCm39)	P132S	probably benign	Het
Pramel58	T	A	5: 94,831,790 (GRCm39)	C266S	probably benign	Het
Prg4	G	A	1: 150,331,692 (GRCm39)	S327L	possibly damaging	Het
Rdh5	C	T	10: 128,754,136 (GRCm39)	R99H	probably benign	Het
Setd1a	T	C	7: 127,383,292 (GRCm39)	F263L	unknown	Het
Setd2	A	G	9: 110,423,338 (GRCm39)	N353S		Het
Sidt1	A	T	16: 44,107,705 (GRCm39)	Y188*	probably null	Het
Slc25a13	A	T	6: 6,073,513 (GRCm39)	N448K	probably damaging	Het
Slc44a5	G	A	3: 153,975,667 (GRCm39)	V693M	probably benign	Het
Smad7	T	C	18: 75,503,968 (GRCm39)	S206P	probably damaging	Het
Snx33	T	A	9: 56,833,476 (GRCm39)	I198F	possibly damaging	Het
Vps13d	A	T	4: 144,897,009 (GRCm39)		probably benign	Het
Vps33b	T	C	7: 79,937,617 (GRCm39)	V455A	probably benign	Het
Zdbf2	CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG	CGCTCCGTGCCCCCCGCG	1: 63,348,729 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,348,373 (GRCm39)	H730Q	probably 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
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
R9258:Sh3gl1	UTSW	17	56,325,911 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGACTCACCTGCATCTAGC -3'
(R):5'- GGGAAATGTGGACCCTAATCTGG -3'

Sequencing Primer
(F):5'- GCATCTAGCAGGGCATCAC -3'
(R):5'- ATGCCTCAGTAAAGTAGTGTGG -3'

Posted On

2020-10-20