Mutagenetix > Incidental Mutation

Incidental Mutation 'R0525:Sh3gl1'

48879

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

038718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56323750-56343635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56324873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 294 (K294R)

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: K294R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200
AA Change: K294R

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

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 124,930,671 (GRCm39)		noncoding transcript	Het
A930002H24Rik	A	G	17: 64,170,642 (GRCm39)	W49R	unknown	Het
Abca13	G	A	11: 9,243,371 (GRCm39)	V1745M	probably damaging	Het
Abca16	T	G	7: 120,065,033 (GRCm39)	Y563*	probably null	Het
Acot12	C	T	13: 91,908,186 (GRCm39)		probably benign	Het
Alms1	G	A	6: 85,564,742 (GRCm39)	A39T	unknown	Het
Arid5b	T	C	10: 67,933,676 (GRCm39)	D742G	possibly damaging	Het
Atp1a4	G	A	1: 172,067,255 (GRCm39)		probably benign	Het
AU021092	T	A	16: 5,035,725 (GRCm39)	E145V	possibly damaging	Het
Calr4	A	T	4: 109,099,461 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,093 (GRCm39)		probably null	Het
Cnpy4	A	T	5: 138,190,878 (GRCm39)	H180L	probably benign	Het
Cyp2j9	T	C	4: 96,467,802 (GRCm39)		probably null	Het
Dgkq	A	G	5: 108,802,481 (GRCm39)	S406P	probably damaging	Het
Dhx8	G	A	11: 101,654,754 (GRCm39)	C1014Y	probably damaging	Het
Dnah3	T	C	7: 119,527,977 (GRCm39)	Y3824C	probably damaging	Het
Donson	A	T	16: 91,483,133 (GRCm39)	H69Q	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Drg1	A	G	11: 3,212,545 (GRCm39)	F96L	probably damaging	Het
Dvl1	A	C	4: 155,940,052 (GRCm39)	T395P	probably damaging	Het
Eftud2	A	T	11: 102,730,079 (GRCm39)	V897D	probably damaging	Het
Enpp6	A	G	8: 47,535,478 (GRCm39)	N341S	possibly damaging	Het
F11	A	G	8: 45,706,086 (GRCm39)	F100L	probably benign	Het
Fas	T	C	19: 34,296,727 (GRCm39)	Y189H	probably damaging	Het
Galnt14	G	T	17: 73,852,076 (GRCm39)	S114R	probably damaging	Het
Gfpt2	A	G	11: 49,720,602 (GRCm39)	I528V	probably benign	Het
Glt6d1	A	G	2: 25,684,280 (GRCm39)	V242A	possibly damaging	Het
Grm1	A	T	10: 10,594,953 (GRCm39)		probably benign	Het
Gskip	G	A	12: 105,665,224 (GRCm39)	A88T	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Hnrnpul1	C	A	7: 25,440,308 (GRCm39)	R316L	possibly damaging	Het
Il34	T	C	8: 111,474,915 (GRCm39)	E121G	probably damaging	Het
Lrr1	T	C	12: 69,215,685 (GRCm39)	L19P	probably damaging	Het
Mat2b	A	G	11: 40,573,496 (GRCm39)		probably benign	Het
Mettl21e	T	C	1: 44,245,542 (GRCm39)	K235E	probably damaging	Het
Mir124-2hg	T	A	3: 17,839,693 (GRCm39)	E126V	possibly damaging	Het
Myh15	A	G	16: 48,952,414 (GRCm39)	K828R	probably benign	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Nek5	C	A	8: 22,569,093 (GRCm39)		probably benign	Het
Nudt7	A	T	8: 114,878,392 (GRCm39)		probably null	Het
Or10ag56	A	T	2: 87,139,693 (GRCm39)	T187S	probably benign	Het
Or10d4c	T	G	9: 39,558,767 (GRCm39)	C248W	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or4a67	G	A	2: 88,597,658 (GRCm39)	Q334*	probably null	Het
Or8k23	C	T	2: 86,186,619 (GRCm39)	V36I	probably benign	Het
Phyhd1	A	G	2: 30,171,040 (GRCm39)	H241R	probably damaging	Het
Pmch	T	C	10: 87,927,262 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,717 (GRCm39)	S697G	probably damaging	Het
Rslcan18	A	G	13: 67,260,322 (GRCm39)	V25A	probably benign	Het
Sema6b	T	C	17: 56,433,630 (GRCm39)	H426R	probably damaging	Het
Serpina3g	T	C	12: 104,204,598 (GRCm39)	F9S	probably damaging	Het
Serpinb12	T	A	1: 106,874,432 (GRCm39)	H52Q	probably benign	Het
Sidt1	G	T	16: 44,079,809 (GRCm39)	T615K	possibly damaging	Het
Slc16a4	A	C	3: 107,205,255 (GRCm39)		probably benign	Het
Sned1	T	A	1: 93,199,696 (GRCm39)		probably null	Het
Sp2	A	T	11: 96,846,924 (GRCm39)		probably benign	Het
Steap1	T	A	5: 5,792,903 (GRCm39)	I3F	possibly damaging	Het
Stxbp5l	A	T	16: 36,950,159 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,995,614 (GRCm39)	V968F	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpc4ap	A	G	2: 155,482,398 (GRCm39)	F531L	possibly damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Vmn1r86	T	C	7: 12,836,088 (GRCm39)	K213E	probably benign	Het
Vps8	G	A	16: 21,358,859 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,903,525 (GRCm39)	S2563T	probably damaging	Het
Yrdc	C	G	4: 124,745,559 (GRCm39)	R3G	probably damaging	Het
Zfp287	A	T	11: 62,606,070 (GRCm39)	V279E	probably benign	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
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
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'- TCAAAATCATAAAGCGCCTTGCAGC -3'
(R):5'- AAATGGCAGTGGTAGCCTGAGC -3'

Sequencing Primer
(F):5'- ATTGTCAGTGCACTGCAGAC -3'
(R):5'- TTCGGGAAGCCTCCTCAC -3'

Posted On

2013-06-12