Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01873:Itsn2'

178792

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itsn2

Ensembl Gene

ENSMUSG00000020640

Gene Name

intersectin 2

Synonyms

Sh3d1B, Sh3p18, Ese2, Eh domain, SH3 domain regulator of endocytosis 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01873

Quality Score

Status

Chromosome

Chromosomal Location

4642792-4763952 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 4682366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000218402] [ENSMUST00000219007] [ENSMUST00000220311]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062580

SMART Domains

Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640

Domain	Start	End	E-Value	Type
EH	15	109	8.44e-41	SMART
EFh	58	86	7.18e-3	SMART
low complexity region	156	169	N/A	INTRINSIC
low complexity region	215	231	N/A	INTRINSIC
EH	238	333	4.06e-43	SMART
EFh	282	310	6.16e-2	SMART
coiled coil region	366	462	N/A	INTRINSIC
coiled coil region	516	556	N/A	INTRINSIC
coiled coil region	580	715	N/A	INTRINSIC
SH3	721	778	2.65e-21	SMART
low complexity region	791	811	N/A	INTRINSIC
SH3	855	909	8.83e-18	SMART
SH3	945	999	9.1e-20	SMART
SH3	1017	1077	1.55e-13	SMART
SH3	1091	1146	7.22e-23	SMART
RhoGEF	1174	1355	1.93e-56	SMART
PH	1396	1507	1.16e-9	SMART
C2	1531	1628	3.96e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218072

Predicted Effect

probably benign
Transcript: ENSMUST00000218402

Predicted Effect

probably benign
Transcript: ENSMUST00000219007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219832

Predicted Effect

probably benign
Transcript: ENSMUST00000220311

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chd9	A	G	8: 91,660,395 (GRCm39)	T452A	probably benign	Het
Coq8a	T	A	1: 180,006,542 (GRCm39)	Q115L	probably damaging	Het
Cul9	T	C	17: 46,813,378 (GRCm39)	E2326G	probably damaging	Het
Cyp2c69	A	G	19: 39,869,693 (GRCm39)		probably benign	Het
Dennd5b	A	T	6: 148,946,027 (GRCm39)	M528K	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gm6665	T	C	18: 31,953,355 (GRCm39)	S38G	probably damaging	Het
Gsg1l	A	G	7: 125,557,615 (GRCm39)	V171A	probably damaging	Het
Ighv5-2	A	T	12: 113,542,350 (GRCm39)	S42T	probably benign	Het
Itch	C	T	2: 155,010,670 (GRCm39)	T46I	possibly damaging	Het
Lime1	T	C	2: 181,024,667 (GRCm39)	V107A	probably benign	Het
Mertk	T	C	2: 128,571,195 (GRCm39)	S50P	possibly damaging	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nckap1	A	T	2: 80,383,729 (GRCm39)	I145K	possibly damaging	Het
Ppp4r3a	A	T	12: 101,008,094 (GRCm39)	I794N	possibly damaging	Het
Psapl1	C	A	5: 36,362,569 (GRCm39)	P387Q	possibly damaging	Het
Ripk1	T	A	13: 34,193,707 (GRCm39)	L23Q	probably damaging	Het
Srrm4	G	T	5: 116,729,527 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,437 (GRCm39)	T376S	probably damaging	Het
Tmem74	T	C	15: 43,730,782 (GRCm39)	D87G	probably benign	Het
Trav19	A	G	14: 54,083,173 (GRCm39)	R83G	probably benign	Het
Tubgcp4	T	C	2: 121,018,665 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfat	T	C	15: 68,096,744 (GRCm39)	N23S	probably benign	Het

Other mutations in Itsn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Itsn2	APN	12	4,708,027 (GRCm39)	missense	possibly damaging	0.95
IGL00647:Itsn2	APN	12	4,663,311 (GRCm39)	splice site	probably benign
IGL00933:Itsn2	APN	12	4,757,540 (GRCm39)	missense	probably damaging	1.00
IGL01686:Itsn2	APN	12	4,686,693 (GRCm39)	splice site	probably benign
IGL02200:Itsn2	APN	12	4,686,632 (GRCm39)	missense	probably damaging	0.98
IGL02280:Itsn2	APN	12	4,758,961 (GRCm39)	missense	possibly damaging	0.89
IGL02388:Itsn2	APN	12	4,679,557 (GRCm39)	missense	possibly damaging	0.91
IGL02938:Itsn2	APN	12	4,747,216 (GRCm39)	missense	probably damaging	0.98
Gopher	UTSW	12	4,756,983 (GRCm39)	nonsense	probably null
inversus	UTSW	12	4,689,670 (GRCm39)	nonsense	probably null
Liberator	UTSW	12	4,716,176 (GRCm39)	nonsense	probably null
rolled	UTSW	12	4,684,792 (GRCm39)	nonsense	probably null
Stratofortress	UTSW	12	4,674,927 (GRCm39)	missense	probably damaging	1.00
Underground	UTSW	12	4,751,276 (GRCm39)	missense	probably damaging	1.00
Vole	UTSW	12	4,723,420 (GRCm39)	nonsense	probably null
R0101:Itsn2	UTSW	12	4,683,058 (GRCm39)	unclassified	probably benign
R0268:Itsn2	UTSW	12	4,750,333 (GRCm39)	missense	probably benign	0.12
R0584:Itsn2	UTSW	12	4,747,180 (GRCm39)	missense	probably benign
R0604:Itsn2	UTSW	12	4,708,189 (GRCm39)	missense	probably benign	0.01
R0639:Itsn2	UTSW	12	4,762,556 (GRCm39)	missense	probably damaging	0.99
R0738:Itsn2	UTSW	12	4,685,681 (GRCm39)	missense	probably benign	0.17
R1132:Itsn2	UTSW	12	4,708,464 (GRCm39)	missense	probably damaging	1.00
R1163:Itsn2	UTSW	12	4,762,009 (GRCm39)	missense	probably benign	0.30
R1169:Itsn2	UTSW	12	4,689,694 (GRCm39)	missense	probably damaging	1.00
R1258:Itsn2	UTSW	12	4,723,464 (GRCm39)	missense	probably damaging	1.00
R1297:Itsn2	UTSW	12	4,750,378 (GRCm39)	missense	probably damaging	1.00
R1423:Itsn2	UTSW	12	4,723,572 (GRCm39)	missense	probably damaging	0.97
R1572:Itsn2	UTSW	12	4,700,044 (GRCm39)	missense	probably benign	0.03
R1601:Itsn2	UTSW	12	4,708,452 (GRCm39)	missense	probably benign	0.01
R1628:Itsn2	UTSW	12	4,679,652 (GRCm39)	missense	probably benign
R1650:Itsn2	UTSW	12	4,687,767 (GRCm39)	missense	probably damaging	0.97
R1752:Itsn2	UTSW	12	4,761,950 (GRCm39)	splice site	probably null
R1758:Itsn2	UTSW	12	4,708,160 (GRCm39)	missense	possibly damaging	0.83
R1942:Itsn2	UTSW	12	4,689,670 (GRCm39)	nonsense	probably null
R1976:Itsn2	UTSW	12	4,722,733 (GRCm39)	splice site	probably benign
R2000:Itsn2	UTSW	12	4,716,176 (GRCm39)	nonsense	probably null
R2060:Itsn2	UTSW	12	4,677,879 (GRCm39)	missense	probably damaging	1.00
R2119:Itsn2	UTSW	12	4,757,025 (GRCm39)	missense	probably benign	0.32
R2168:Itsn2	UTSW	12	4,683,044 (GRCm39)	unclassified	probably benign
R2394:Itsn2	UTSW	12	4,757,005 (GRCm39)	missense	possibly damaging	0.86
R2860:Itsn2	UTSW	12	4,750,315 (GRCm39)	splice site	probably benign
R2861:Itsn2	UTSW	12	4,750,315 (GRCm39)	splice site	probably benign
R2900:Itsn2	UTSW	12	4,680,713 (GRCm39)	unclassified	probably benign
R2991:Itsn2	UTSW	12	4,708,474 (GRCm39)	missense	probably benign	0.01
R3087:Itsn2	UTSW	12	4,716,303 (GRCm39)	missense	probably damaging	1.00
R3881:Itsn2	UTSW	12	4,684,546 (GRCm39)	unclassified	probably benign
R4022:Itsn2	UTSW	12	4,674,927 (GRCm39)	missense	probably damaging	1.00
R4332:Itsn2	UTSW	12	4,762,611 (GRCm39)	missense	possibly damaging	0.72
R4657:Itsn2	UTSW	12	4,763,197 (GRCm39)	makesense	probably null
R4727:Itsn2	UTSW	12	4,757,660 (GRCm39)	missense	probably damaging	0.99
R4745:Itsn2	UTSW	12	4,711,944 (GRCm39)	missense	probably damaging	1.00
R4770:Itsn2	UTSW	12	4,677,892 (GRCm39)	missense	probably damaging	1.00
R4905:Itsn2	UTSW	12	4,684,583 (GRCm39)	unclassified	probably benign
R5269:Itsn2	UTSW	12	4,683,553 (GRCm39)	unclassified	probably benign
R5314:Itsn2	UTSW	12	4,677,960 (GRCm39)	missense	probably benign	0.09
R5345:Itsn2	UTSW	12	4,722,783 (GRCm39)	missense	probably damaging	1.00
R5399:Itsn2	UTSW	12	4,703,535 (GRCm39)	missense	probably benign	0.22
R5566:Itsn2	UTSW	12	4,676,554 (GRCm39)	missense	probably damaging	1.00
R5725:Itsn2	UTSW	12	4,680,767 (GRCm39)	unclassified	probably benign
R5773:Itsn2	UTSW	12	4,757,089 (GRCm39)	missense	probably damaging	1.00
R6116:Itsn2	UTSW	12	4,679,939 (GRCm39)	unclassified	probably benign
R6254:Itsn2	UTSW	12	4,674,982 (GRCm39)	splice site	probably null
R6325:Itsn2	UTSW	12	4,756,351 (GRCm39)	missense	probably damaging	1.00
R6361:Itsn2	UTSW	12	4,679,655 (GRCm39)	missense	probably benign	0.18
R6456:Itsn2	UTSW	12	4,679,923 (GRCm39)	unclassified	probably benign
R6494:Itsn2	UTSW	12	4,684,792 (GRCm39)	nonsense	probably null
R6854:Itsn2	UTSW	12	4,702,382 (GRCm39)	missense	probably benign	0.37
R6941:Itsn2	UTSW	12	4,679,641 (GRCm39)	missense	probably benign	0.05
R6961:Itsn2	UTSW	12	4,723,420 (GRCm39)	nonsense	probably null
R7326:Itsn2	UTSW	12	4,682,985 (GRCm39)	missense	unknown
R7387:Itsn2	UTSW	12	4,689,781 (GRCm39)	missense	probably damaging	1.00
R7465:Itsn2	UTSW	12	4,756,983 (GRCm39)	nonsense	probably null
R7471:Itsn2	UTSW	12	4,758,198 (GRCm39)	missense	probably benign	0.43
R7814:Itsn2	UTSW	12	4,708,561 (GRCm39)	missense	probably benign	0.14
R7854:Itsn2	UTSW	12	4,751,276 (GRCm39)	missense	probably damaging	1.00
R7879:Itsn2	UTSW	12	4,751,265 (GRCm39)	missense	probably benign	0.16
R7990:Itsn2	UTSW	12	4,685,629 (GRCm39)	missense	unknown
R8009:Itsn2	UTSW	12	4,714,553 (GRCm39)	missense	probably benign	0.12
R8115:Itsn2	UTSW	12	4,723,602 (GRCm39)	missense	possibly damaging	0.90
R8143:Itsn2	UTSW	12	4,683,003 (GRCm39)	missense	unknown
R8248:Itsn2	UTSW	12	4,712,052 (GRCm39)	missense	probably benign	0.00
R8735:Itsn2	UTSW	12	4,721,474 (GRCm39)	missense	probably damaging	1.00
R8748:Itsn2	UTSW	12	4,751,337 (GRCm39)	missense	probably benign	0.36
R9018:Itsn2	UTSW	12	4,708,091 (GRCm39)	missense	possibly damaging	0.57
R9386:Itsn2	UTSW	12	4,679,730 (GRCm39)	missense	unknown
R9681:Itsn2	UTSW	12	4,683,499 (GRCm39)	missense	unknown
Z1088:Itsn2	UTSW	12	4,762,472 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07