Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01109:Itsn1'

52934

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 #

IGL01109

Quality Score

Status

Chromosome

Chromosomal Location

91526198-91717479 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 91603089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056482] [ENSMUST00000064797] [ENSMUST00000095909] [ENSMUST00000113993] [ENSMUST00000113996] [ENSMUST00000113999] [ENSMUST00000114001] [ENSMUST00000135057] [ENSMUST00000114002] [ENSMUST00000159295] [ENSMUST00000231535] [ENSMUST00000231974]

AlphaFold

Q9Z0R4

Predicted Effect

probably benign
Transcript: ENSMUST00000056482

SMART Domains

Protein: ENSMUSP00000056011
Gene: ENSMUSG00000022957

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064797

SMART Domains

Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957

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

probably benign
Transcript: ENSMUST00000095909

SMART Domains

Protein: ENSMUSP00000093598
Gene: ENSMUSG00000022957

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	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113993

SMART Domains

Protein: ENSMUSP00000109626
Gene: ENSMUSG00000022957

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	1004	1064	2.46e-16	SMART
SH3	1085	1140	7.97e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113996

SMART Domains

Protein: ENSMUSP00000109629
Gene: ENSMUSG00000022957

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	999	1059	2.46e-16	SMART
SH3	1080	1135	7.97e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113999

SMART Domains

Protein: ENSMUSP00000109632
Gene: ENSMUSG00000022957

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114001

SMART Domains

Protein: ENSMUSP00000109634
Gene: ENSMUSG00000022957

Domain	Start	End	E-Value	Type
EH	14	108	1.34e-43	SMART
EFh	57	85	2.14e-1	SMART
low complexity region	145	155	N/A	INTRINSIC
EH	177	272	2.55e-49	SMART
EFh	221	249	1.77e-2	SMART
low complexity region	293	305	N/A	INTRINSIC
coiled coil region	315	410	N/A	INTRINSIC
coiled coil region	431	478	N/A	INTRINSIC
low complexity region	489	500	N/A	INTRINSIC
coiled coil region	524	624	N/A	INTRINSIC
low complexity region	650	659	N/A	INTRINSIC
SH3	704	761	1.05e-19	SMART
SH3	872	926	2.64e-16	SMART
SH3	961	1015	1.82e-19	SMART
SH3	1033	1093	2.46e-16	SMART
SH3	1114	1169	7.97e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135057

SMART Domains

Protein: ENSMUSP00000117018
Gene: ENSMUSG00000022957

Domain	Start	End	E-Value	Type
EH	14	108	1.34e-43	SMART
EFh	57	85	2.14e-1	SMART
low complexity region	121	131	N/A	INTRINSIC
EH	153	248	2.55e-49	SMART
EFh	197	225	1.77e-2	SMART
low complexity region	269	281	N/A	INTRINSIC
coiled coil region	291	359	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156841

Predicted Effect

probably benign
Transcript: ENSMUST00000114002

SMART Domains

Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957

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

noncoding transcript
Transcript: ENSMUST00000124094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133389

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: ENSMUST00000231535

Predicted Effect

probably benign
Transcript: ENSMUST00000231974

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	T	C	18: 65,440,211 (GRCm39)	D861G	probably benign	Het
Anapc4	A	G	5: 53,005,970 (GRCm39)	T326A	probably damaging	Het
Atm	T	C	9: 53,401,593 (GRCm39)	I1425M	probably damaging	Het
Bend5	T	C	4: 111,305,838 (GRCm39)	L294P	probably damaging	Het
Casp7	T	A	19: 56,425,177 (GRCm39)	D193E	probably benign	Het
Cdc16	T	C	8: 13,814,606 (GRCm39)	V130A	probably benign	Het
Chl1	T	G	6: 103,692,354 (GRCm39)	Y331D	probably damaging	Het
Cntn1	C	A	15: 92,237,458 (GRCm39)	Y1017*	probably null	Het
Cyb5d1	C	A	11: 69,284,610 (GRCm39)		probably null	Het
Cyp2c38	A	G	19: 39,451,329 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,750,037 (GRCm39)	M827V	probably benign	Het
Ehd1	T	A	19: 6,348,177 (GRCm39)	M385K	possibly damaging	Het
Eya3	C	A	4: 132,420,311 (GRCm39)	Y52*	probably null	Het
Ktn1	A	T	14: 47,952,178 (GRCm39)	N983I	probably damaging	Het
Lrrk2	T	A	15: 91,623,035 (GRCm39)	N1068K	probably damaging	Het
Mup6	T	A	4: 60,006,001 (GRCm39)	N156K	probably damaging	Het
Nedd9	T	A	13: 41,469,710 (GRCm39)	H481L	probably benign	Het
Obscn	T	C	11: 59,024,588 (GRCm39)	D484G	probably damaging	Het
Ogdh	T	C	11: 6,298,790 (GRCm39)	V674A	probably damaging	Het
Or4a27	T	C	2: 88,559,409 (GRCm39)	D178G	probably damaging	Het
Or4f54	G	A	2: 111,122,864 (GRCm39)	D84N	probably benign	Het
Or5b113	A	G	19: 13,342,063 (GRCm39)	I24V	probably benign	Het
Or5d38	T	C	2: 87,955,023 (GRCm39)	Q102R	probably damaging	Het
Or8g53	T	C	9: 39,683,293 (GRCm39)	M268V	probably benign	Het
Or8k32	T	A	2: 86,368,674 (GRCm39)	D195V	probably benign	Het
Osbpl6	A	G	2: 76,379,871 (GRCm39)	T154A	probably damaging	Het
P2rx1	T	C	11: 72,899,041 (GRCm39)	V84A	probably damaging	Het
Pcdh11x	G	A	X: 119,310,611 (GRCm39)	V685I	possibly damaging	Het
Ppp4r3b	T	A	11: 29,138,288 (GRCm39)	V212E	probably damaging	Het
Prune2	A	G	19: 17,101,243 (GRCm39)	D2249G	probably benign	Het
Slc5a8	T	A	10: 88,742,254 (GRCm39)	S317T	possibly damaging	Het
Ssc5d	T	A	7: 4,940,111 (GRCm39)	L822*	probably null	Het
Swt1	A	G	1: 151,286,890 (GRCm39)	S201P	probably damaging	Het
Tet1	T	A	10: 62,715,553 (GRCm39)	M81L	probably benign	Het
Tex9	T	A	9: 72,395,349 (GRCm39)	N39I	probably damaging	Het
Ttc4	T	C	4: 106,520,360 (GRCm39)	Y378C	probably damaging	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Ugt2b35	C	T	5: 87,156,165 (GRCm39)	T419I	probably damaging	Het
Ugt3a1	T	G	15: 9,367,354 (GRCm39)	F366V	probably damaging	Het
Zfp324	A	G	7: 12,703,362 (GRCm39)	T95A	probably benign	Het

Other mutations in Itsn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02628:Itsn1	APN	16	91,696,511 (GRCm39)	missense	possibly damaging	0.79
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

2013-06-21