Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03007:Itsn1'

407613

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 #

IGL03007

Quality Score

Status

Chromosome

Chromosomal Location

91526198-91717479 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 91581050 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] [ENSMUST00000231974] [ENSMUST00000231535]

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

noncoding transcript
Transcript: ENSMUST00000133389

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

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: ENSMUST00000131983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139890

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: ENSMUST00000231974

Predicted Effect

probably benign
Transcript: ENSMUST00000231535

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,098,034 (GRCm39)	N144D	possibly damaging	Het
A830031A19Rik	T	C	11: 23,999,248 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,641,347 (GRCm39)	F640S	probably damaging	Het
Asb8	A	G	15: 98,040,615 (GRCm39)	Y16H	probably damaging	Het
Astn1	T	C	1: 158,496,193 (GRCm39)		probably benign	Het
Btbd8	T	A	5: 107,651,542 (GRCm39)	V145E	probably benign	Het
Celf3	A	G	3: 94,394,444 (GRCm39)	T183A	probably benign	Het
Dctn1	T	C	6: 83,159,690 (GRCm39)	V56A	probably damaging	Het
Erbb2	A	C	11: 98,319,819 (GRCm39)		probably benign	Het
Ighv6-4	A	T	12: 114,370,213 (GRCm39)	Y80N	possibly damaging	Het
Igsf9b	T	C	9: 27,244,378 (GRCm39)	S782P	probably damaging	Het
Kcnt2	T	A	1: 140,282,245 (GRCm39)	Y77N	possibly damaging	Het
Lig3	T	C	11: 82,680,401 (GRCm39)	F359S	probably damaging	Het
Mtmr6	G	T	14: 60,526,984 (GRCm39)		probably benign	Het
Muc4	C	T	16: 32,570,866 (GRCm39)	S642F	possibly damaging	Het
Ncoa1	T	A	12: 4,389,114 (GRCm39)	I54F	possibly damaging	Het
Nfx1	C	A	4: 40,984,962 (GRCm39)	T362K	probably benign	Het
Ntrk1	T	C	3: 87,690,050 (GRCm39)	S449G	possibly damaging	Het
Odc1	T	A	12: 17,598,811 (GRCm39)	H230Q	probably benign	Het
Or10d4	T	C	9: 39,580,767 (GRCm39)	V138A	possibly damaging	Het
Or10h28	A	G	17: 33,487,857 (GRCm39)	E53G	probably damaging	Het
Or1j19	T	C	2: 36,676,812 (GRCm39)	S92P	probably damaging	Het
Or8d1	C	T	9: 38,766,592 (GRCm39)	T78I	probably damaging	Het
Plekhh2	A	C	17: 84,882,388 (GRCm39)	S665R	possibly damaging	Het
Qpct	T	A	17: 79,378,294 (GRCm39)	F155I	probably damaging	Het
Rcor2	C	A	19: 7,251,718 (GRCm39)	T379K	probably benign	Het
Rint1	A	G	5: 24,020,699 (GRCm39)	N574S	probably benign	Het
Rsbn1	C	T	3: 103,836,195 (GRCm39)	A411V	probably damaging	Het
Sbno2	A	T	10: 79,894,384 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,668,115 (GRCm39)	S661P	probably damaging	Het
Syn3	A	T	10: 85,900,778 (GRCm39)	M370K	possibly damaging	Het
Tex101	G	A	7: 24,369,906 (GRCm39)		probably benign	Het
Tmem255b	C	T	8: 13,507,066 (GRCm39)	T265I	possibly damaging	Het
Trio	G	T	15: 27,902,828 (GRCm39)	A211D	probably damaging	Het
Zfp638	C	A	6: 83,961,866 (GRCm39)	Q1902K	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
IGL02628:Itsn1	APN	16	91,696,511 (GRCm39)	missense	possibly damaging	0.79
IGL02666:Itsn1	APN	16	91,617,606 (GRCm39)	intron	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

2016-08-02