Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02628:Itsn1'

301168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itsn1

Ensembl Gene

ENSMUSG00000022957

Gene Name

intersectin 1 (SH3 domain protein 1A)

Synonyms

Eh domain, SH3 domain regulator of endocytosis 1, Sh3p17, Ese1, Intersectin-L, EHSH1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02628

Quality Score

Status

Chromosome

Chromosomal Location

91526198-91717479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91696511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

Ref Sequence

ENSEMBL: ENSMUSP00000115563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064797] [ENSMUST00000114002] [ENSMUST00000141625] [ENSMUST00000159295] [ENSMUST00000231735] [ENSMUST00000231852]

AlphaFold

Q9Z0R4

Predicted Effect

unknown
Transcript: ENSMUST00000064797
AA Change: D1429G

SMART Domains

Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: D1429G

Domain	Start	End	E-Value	Type
EH	14	108	1.34e-43	SMART
EFh	57	85	2.14e-1	SMART
low complexity region	138	165	N/A	INTRINSIC
low complexity region	182	192	N/A	INTRINSIC
EH	214	309	2.55e-49	SMART
EFh	258	286	1.77e-2	SMART
low complexity region	330	342	N/A	INTRINSIC
coiled coil region	352	447	N/A	INTRINSIC
coiled coil region	468	515	N/A	INTRINSIC
low complexity region	526	537	N/A	INTRINSIC
coiled coil region	561	661	N/A	INTRINSIC
low complexity region	687	696	N/A	INTRINSIC
SH3	741	803	1.62e-16	SMART
SH3	914	968	2.64e-16	SMART
SH3	1003	1057	1.82e-19	SMART
SH3	1075	1135	2.46e-16	SMART
SH3	1156	1211	7.97e-25	SMART
RhoGEF	1239	1420	1e-63	SMART
PH	1461	1571	6.07e-13	SMART
C2	1595	1692	1.58e-18	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000114002
AA Change: D1424G

SMART Domains

Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: D1424G

Domain	Start	End	E-Value	Type
EH	14	108	1.34e-43	SMART
EFh	57	85	2.14e-1	SMART
low complexity region	138	165	N/A	INTRINSIC
low complexity region	182	192	N/A	INTRINSIC
EH	214	309	2.55e-49	SMART
EFh	258	286	1.77e-2	SMART
low complexity region	330	342	N/A	INTRINSIC
coiled coil region	352	447	N/A	INTRINSIC
coiled coil region	468	515	N/A	INTRINSIC
low complexity region	526	537	N/A	INTRINSIC
coiled coil region	561	661	N/A	INTRINSIC
low complexity region	687	696	N/A	INTRINSIC
SH3	741	798	1.05e-19	SMART
SH3	909	963	2.64e-16	SMART
SH3	998	1052	1.82e-19	SMART
SH3	1070	1130	2.46e-16	SMART
SH3	1151	1206	7.97e-25	SMART
RhoGEF	1234	1415	1e-63	SMART
PH	1456	1566	6.07e-13	SMART
C2	1590	1687	1.58e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125052

SMART Domains

Protein: ENSMUSP00000115985
Gene: ENSMUSG00000022957

Domain	Start	End	E-Value	Type
RhoGEF	6	185	1.19e-38	SMART
PH	172	282	6.07e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000131739
AA Change: D38G

SMART Domains

Protein: ENSMUSP00000114145
Gene: ENSMUSG00000022957
AA Change: D38G

Domain	Start	End	E-Value	Type
SCOP:d1ki1b1	2	46	2e-11	SMART
Blast:PH	2	58	5e-32	BLAST
PDB:3QBV\|D	2	59	8e-33	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141625
AA Change: D38G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115563
Gene: ENSMUSG00000022957
AA Change: D38G

Domain	Start	End	E-Value	Type
PH	17	109	2.02e0	SMART
Pfam:C2	134	173	7.4e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159295

SMART Domains

Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933

Domain	Start	End	E-Value	Type
Pfam:OSCP	1	89	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231735

Predicted Effect

probably benign
Transcript: ENSMUST00000231852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232198

Meta Mutation Damage Score

0.3218

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a gene trapped allele exhibit embryonic lethal. Mice homozygous for a null allele exhibit some postnatal lethality and impaired vesicle recycling in surviving mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	T	A	12: 71,001,430 (GRCm39)		probably null	Het
Ankhd1	T	C	18: 36,780,756 (GRCm39)	V1936A	probably benign	Het
Ap3m1	C	A	14: 21,095,588 (GRCm39)	E81*	probably null	Het
Camkk1	T	C	11: 72,919,995 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cmc1	A	G	9: 117,894,376 (GRCm39)	Y33H	probably damaging	Het
Cntnap5b	A	T	1: 99,999,794 (GRCm39)	D184V	probably damaging	Het
F5	A	T	1: 164,021,644 (GRCm39)	D1373V	probably damaging	Het
Fam169a	T	C	13: 97,247,796 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,639,019 (GRCm39)	R328W	probably damaging	Het
Gba2	T	C	4: 43,568,919 (GRCm39)	R579G	probably benign	Het
Gm42641	G	A	9: 108,887,698 (GRCm39)	Q98*	probably null	Het
Hsd17b7	A	G	1: 169,792,058 (GRCm39)	F117L	possibly damaging	Het
Map1a	T	C	2: 121,130,585 (GRCm39)	I467T	probably damaging	Het
Map2k4	T	A	11: 65,581,567 (GRCm39)	I382F	possibly damaging	Het
Myh1	T	G	11: 67,097,088 (GRCm39)		probably benign	Het
Nr1h4	C	T	10: 89,309,701 (GRCm39)	A339T	probably damaging	Het
Opn4	T	A	14: 34,315,014 (GRCm39)	T420S	probably benign	Het
Or5h22	A	C	16: 58,895,155 (GRCm39)	M96R	probably benign	Het
Or6n1	A	G	1: 173,916,756 (GRCm39)	Y50C	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc17a3	T	A	13: 24,026,434 (GRCm39)	M1K	probably null	Het
T	T	A	17: 8,654,190 (GRCm39)	I125N	probably damaging	Het
Tns2	T	A	15: 102,020,263 (GRCm39)	S710T	probably benign	Het
Trav3-1	T	A	14: 52,818,551 (GRCm39)	V75E	probably benign	Het
U2surp	A	G	9: 95,354,143 (GRCm39)	Y832H	possibly damaging	Het
Zng1	T	A	19: 24,935,269 (GRCm39)	E78D	probably damaging	Het

Other mutations in Itsn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Itsn1	APN	16	91,603,089 (GRCm39)	unclassified	probably benign
IGL01799:Itsn1	APN	16	91,645,770 (GRCm39)	missense	probably damaging	1.00
IGL02328:Itsn1	APN	16	91,612,295 (GRCm39)	missense	probably damaging	1.00
IGL02333:Itsn1	APN	16	91,617,564 (GRCm39)	intron	probably benign
IGL02503:Itsn1	APN	16	91,686,092 (GRCm39)	missense	possibly damaging	0.62
IGL02666:Itsn1	APN	16	91,617,606 (GRCm39)	intron	probably benign
IGL03007:Itsn1	APN	16	91,581,050 (GRCm39)	splice site	probably benign
IGL03223:Itsn1	APN	16	91,702,194 (GRCm39)	missense	probably benign	0.00
raphael	UTSW	16	91,617,684 (GRCm39)	intron	probably benign
Sector	UTSW	16	91,705,375 (GRCm39)	critical splice donor site	probably null
Weevil	UTSW	16	91,615,440 (GRCm39)	intron	probably benign
R0234:Itsn1	UTSW	16	91,625,168 (GRCm39)	nonsense	probably null
R0234:Itsn1	UTSW	16	91,625,168 (GRCm39)	nonsense	probably null
R0255:Itsn1	UTSW	16	91,602,978 (GRCm39)	unclassified	probably benign
R0432:Itsn1	UTSW	16	91,612,408 (GRCm39)	missense	probably damaging	1.00
R0455:Itsn1	UTSW	16	91,665,036 (GRCm39)	intron	probably benign
R0471:Itsn1	UTSW	16	91,696,477 (GRCm39)	missense	probably damaging	1.00
R0558:Itsn1	UTSW	16	91,696,511 (GRCm39)	missense	possibly damaging	0.79
R0563:Itsn1	UTSW	16	91,617,684 (GRCm39)	intron	probably benign
R1657:Itsn1	UTSW	16	91,706,111 (GRCm39)	missense	probably damaging	1.00
R1671:Itsn1	UTSW	16	91,609,038 (GRCm39)	missense	probably damaging	1.00
R1742:Itsn1	UTSW	16	91,613,847 (GRCm39)	critical splice donor site	probably null
R1859:Itsn1	UTSW	16	91,686,042 (GRCm39)	intron	probably benign
R1898:Itsn1	UTSW	16	91,696,468 (GRCm39)	missense	probably damaging	1.00
R2016:Itsn1	UTSW	16	91,702,389 (GRCm39)	critical splice donor site	probably null
R2221:Itsn1	UTSW	16	91,650,656 (GRCm39)	intron	probably benign
R2244:Itsn1	UTSW	16	91,650,659 (GRCm39)	missense	probably null
R3160:Itsn1	UTSW	16	91,649,932 (GRCm39)	nonsense	probably null
R3162:Itsn1	UTSW	16	91,649,932 (GRCm39)	nonsense	probably null
R3814:Itsn1	UTSW	16	91,649,809 (GRCm39)	missense	possibly damaging	0.96
R4162:Itsn1	UTSW	16	91,649,790 (GRCm39)	missense	probably benign	0.00
R4254:Itsn1	UTSW	16	91,615,440 (GRCm39)	intron	probably benign
R4319:Itsn1	UTSW	16	91,615,440 (GRCm39)	intron	probably benign
R4321:Itsn1	UTSW	16	91,615,440 (GRCm39)	intron	probably benign
R4323:Itsn1	UTSW	16	91,615,440 (GRCm39)	intron	probably benign
R4326:Itsn1	UTSW	16	91,650,743 (GRCm39)	intron	probably benign
R4515:Itsn1	UTSW	16	91,696,537 (GRCm39)	missense	probably damaging	0.99
R4584:Itsn1	UTSW	16	91,617,471 (GRCm39)	intron	probably benign
R4600:Itsn1	UTSW	16	91,696,475 (GRCm39)	missense	probably damaging	1.00
R4649:Itsn1	UTSW	16	91,638,476 (GRCm39)	missense	probably damaging	1.00
R4834:Itsn1	UTSW	16	91,703,677 (GRCm39)	nonsense	probably null
R4868:Itsn1	UTSW	16	91,582,205 (GRCm39)	missense	probably damaging	0.98
R5036:Itsn1	UTSW	16	91,579,123 (GRCm39)	splice site	probably benign
R5122:Itsn1	UTSW	16	91,690,732 (GRCm39)	intron	probably benign
R5161:Itsn1	UTSW	16	91,705,726 (GRCm39)	missense	possibly damaging	0.95
R5437:Itsn1	UTSW	16	91,615,479 (GRCm39)	intron	probably benign
R5538:Itsn1	UTSW	16	91,580,990 (GRCm39)	missense	probably damaging	1.00
R5683:Itsn1	UTSW	16	91,702,268 (GRCm39)	missense	probably benign	0.00
R5697:Itsn1	UTSW	16	91,598,477 (GRCm39)	missense	possibly damaging	0.56
R5749:Itsn1	UTSW	16	91,703,743 (GRCm39)	missense	probably damaging	0.99
R6083:Itsn1	UTSW	16	91,649,899 (GRCm39)	missense	probably benign	0.01
R6148:Itsn1	UTSW	16	91,613,740 (GRCm39)	missense	probably damaging	1.00
R6291:Itsn1	UTSW	16	91,664,984 (GRCm39)	intron	probably benign
R6524:Itsn1	UTSW	16	91,708,883 (GRCm39)	missense	probably damaging	0.96
R7175:Itsn1	UTSW	16	91,664,938 (GRCm39)	missense	unknown
R7261:Itsn1	UTSW	16	91,702,194 (GRCm39)	missense	probably benign	0.00
R7320:Itsn1	UTSW	16	91,636,587 (GRCm39)	missense	unknown
R7366:Itsn1	UTSW	16	91,705,338 (GRCm39)	missense	unknown
R7462:Itsn1	UTSW	16	91,650,073 (GRCm39)	missense	possibly damaging	0.53
R7665:Itsn1	UTSW	16	91,638,491 (GRCm39)	missense	unknown
R7720:Itsn1	UTSW	16	91,664,971 (GRCm39)	missense	unknown
R7856:Itsn1	UTSW	16	91,705,375 (GRCm39)	critical splice donor site	probably null
R7864:Itsn1	UTSW	16	91,598,454 (GRCm39)	missense	possibly damaging	0.47
R7896:Itsn1	UTSW	16	91,615,446 (GRCm39)	missense	unknown
R7897:Itsn1	UTSW	16	91,615,446 (GRCm39)	missense	unknown
R7980:Itsn1	UTSW	16	91,702,182 (GRCm39)	missense	unknown
R7998:Itsn1	UTSW	16	91,647,824 (GRCm39)	missense	unknown
R8075:Itsn1	UTSW	16	91,686,097 (GRCm39)	missense	unknown
R8144:Itsn1	UTSW	16	91,708,893 (GRCm39)	missense	unknown
R8160:Itsn1	UTSW	16	91,615,446 (GRCm39)	missense	unknown
R8161:Itsn1	UTSW	16	91,615,446 (GRCm39)	missense	unknown
R8176:Itsn1	UTSW	16	91,645,597 (GRCm39)	splice site	probably null
R8215:Itsn1	UTSW	16	91,608,996 (GRCm39)	missense	probably damaging	0.99
R8385:Itsn1	UTSW	16	91,690,699 (GRCm39)	missense	unknown
R8725:Itsn1	UTSW	16	91,636,721 (GRCm39)	missense	unknown
R9012:Itsn1	UTSW	16	91,645,849 (GRCm39)	missense	unknown
R9039:Itsn1	UTSW	16	91,703,658 (GRCm39)	missense	unknown
R9092:Itsn1	UTSW	16	91,609,002 (GRCm39)	missense	possibly damaging	0.86
R9134:Itsn1	UTSW	16	91,666,514 (GRCm39)	missense	unknown
R9401:Itsn1	UTSW	16	91,612,408 (GRCm39)	missense	probably damaging	1.00
R9449:Itsn1	UTSW	16	91,625,264 (GRCm39)	makesense	probably null
R9568:Itsn1	UTSW	16	91,649,782 (GRCm39)	missense	probably benign
R9616:Itsn1	UTSW	16	91,650,055 (GRCm39)	missense	probably benign	0.11

Posted On

2015-04-16