Mutagenetix > Incidental Mutation

Incidental Mutation 'R5749:Itsn1'

445939

Institutional Source

Beutler Lab

Gene Symbol

Itsn1

Ensembl Gene

ENSMUSG00000022957

Gene Name

intersectin 1 (SH3 domain protein 1A)

Synonyms

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

MMRRC Submission

043200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91729281-91920597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91906855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 87 (L87H)

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: L1549H

SMART Domains

Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: L1549H

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: L1544H

SMART Domains

Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: L1544H

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

unknown
Transcript: ENSMUST00000125052
AA Change: L259H

SMART Domains

Protein: ENSMUSP00000115985
Gene: ENSMUSG00000022957
AA Change: L259H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131739

SMART Domains

Protein: ENSMUSP00000114145
Gene: ENSMUSG00000022957

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

probably damaging
Transcript: ENSMUST00000141625
AA Change: L87H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115563
Gene: ENSMUSG00000022957
AA Change: L87H

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 damaging
Transcript: ENSMUST00000231735
AA Change: L109H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231852
AA Change: L109H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232198

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,324,055		probably null	Het
Ankrd12	T	C	17: 65,986,096	S781G	probably benign	Het
Bicc1	A	G	10: 70,946,969	S523P	probably benign	Het
Ccdc163	T	A	4: 116,714,112	C44*	probably null	Het
Ccdc83	T	C	7: 90,223,948	T400A	probably damaging	Het
Cobl	A	G	11: 12,266,965	S426P	possibly damaging	Het
Cyhr1	A	C	15: 76,658,644		probably null	Het
Cyp2b19	T	C	7: 26,763,419	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,639,347	C92G	probably damaging	Het
Fam90a1a	T	A	8: 21,963,041	S137R	possibly damaging	Het
Fbxo17	G	A	7: 28,737,472	R284H	probably damaging	Het
Fem1b	A	G	9: 62,797,006	L324P	probably damaging	Het
Fsd1	T	A	17: 55,995,849		probably null	Het
Gtpbp4	A	G	13: 8,995,947		probably null	Het
Ifi209	A	C	1: 173,637,327	I8L	probably damaging	Het
Itga8	T	C	2: 12,262,078	E182G	probably damaging	Het
Klk1b16	T	C	7: 44,140,786	I160T	probably benign	Het
Lbp	T	A	2: 158,319,753	V52D	probably damaging	Het
Med23	T	C	10: 24,888,449	V318A	possibly damaging	Het
Myo16	C	T	8: 10,413,245	S604L	probably benign	Het
Olfr1113	C	T	2: 87,212,943	T17I	probably benign	Het
Olfr1448	A	G	19: 12,920,225	V28A	probably benign	Het
Olfr1510	T	A	14: 52,410,504	M123L	probably damaging	Het
Olfr768	A	T	10: 129,093,097	N292K	probably damaging	Het
Pcdh8	T	C	14: 79,770,085	D346G	probably damaging	Het
Ppara	A	T	15: 85,789,028	D140V	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Prss36	T	A	7: 127,933,642	I192F	probably damaging	Het
Psg25	T	C	7: 18,524,851	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,856,371	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,242,757	T796S	probably damaging	Het
Stard9	A	G	2: 120,703,786	H3508R	probably damaging	Het
Tep1	T	A	14: 50,844,072	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,249,310	E59G	probably damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Tns3	A	T	11: 8,451,177	H1040Q	probably benign	Het
Usp10	G	A	8: 119,941,133	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,733,273	T512A	probably benign	Het
Vmn2r52	C	T	7: 10,159,032	D727N	probably damaging	Het
Vmn2r66	T	A	7: 85,006,771	K346*	probably null	Het
Vmn2r93	T	A	17: 18,298,284	F2I	probably benign	Het
Zfp697	T	C	3: 98,425,464	S69P	probably benign	Het

Other mutations in Itsn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Itsn1	APN	16	91806201	unclassified	probably benign
IGL01799:Itsn1	APN	16	91848882	missense	probably damaging	1.00
IGL02328:Itsn1	APN	16	91815407	missense	probably damaging	1.00
IGL02333:Itsn1	APN	16	91820676	intron	probably benign
IGL02503:Itsn1	APN	16	91889204	missense	possibly damaging	0.62
IGL02628:Itsn1	APN	16	91899623	missense	possibly damaging	0.79
IGL02666:Itsn1	APN	16	91820718	intron	probably benign
IGL03007:Itsn1	APN	16	91784162	splice site	probably benign
IGL03223:Itsn1	APN	16	91905306	missense	probably benign	0.00
raphael	UTSW	16	91820796	intron	probably benign
Sector	UTSW	16	91908487	critical splice donor site	probably null
Weevil	UTSW	16	91818552	intron	probably benign
R0234:Itsn1	UTSW	16	91828280	nonsense	probably null
R0234:Itsn1	UTSW	16	91828280	nonsense	probably null
R0255:Itsn1	UTSW	16	91806090	unclassified	probably benign
R0432:Itsn1	UTSW	16	91815520	missense	probably damaging	1.00
R0455:Itsn1	UTSW	16	91868148	intron	probably benign
R0471:Itsn1	UTSW	16	91899589	missense	probably damaging	1.00
R0558:Itsn1	UTSW	16	91899623	missense	possibly damaging	0.79
R0563:Itsn1	UTSW	16	91820796	intron	probably benign
R1657:Itsn1	UTSW	16	91909223	missense	probably damaging	1.00
R1671:Itsn1	UTSW	16	91812150	missense	probably damaging	1.00
R1742:Itsn1	UTSW	16	91816959	critical splice donor site	probably null
R1859:Itsn1	UTSW	16	91889154	intron	probably benign
R1898:Itsn1	UTSW	16	91899580	missense	probably damaging	1.00
R2016:Itsn1	UTSW	16	91905501	critical splice donor site	probably null
R2221:Itsn1	UTSW	16	91853768	intron	probably benign
R2244:Itsn1	UTSW	16	91853771	missense	probably null
R3160:Itsn1	UTSW	16	91853044	nonsense	probably null
R3162:Itsn1	UTSW	16	91853044	nonsense	probably null
R3814:Itsn1	UTSW	16	91852921	missense	possibly damaging	0.96
R4162:Itsn1	UTSW	16	91852902	missense	probably benign	0.00
R4254:Itsn1	UTSW	16	91818552	intron	probably benign
R4319:Itsn1	UTSW	16	91818552	intron	probably benign
R4321:Itsn1	UTSW	16	91818552	intron	probably benign
R4323:Itsn1	UTSW	16	91818552	intron	probably benign
R4326:Itsn1	UTSW	16	91853855	intron	probably benign
R4515:Itsn1	UTSW	16	91899649	missense	probably damaging	0.99
R4584:Itsn1	UTSW	16	91820583	intron	probably benign
R4600:Itsn1	UTSW	16	91899587	missense	probably damaging	1.00
R4649:Itsn1	UTSW	16	91841588	missense	probably damaging	1.00
R4834:Itsn1	UTSW	16	91906789	nonsense	probably null
R4868:Itsn1	UTSW	16	91785317	missense	probably damaging	0.98
R5036:Itsn1	UTSW	16	91782235	splice site	probably benign
R5122:Itsn1	UTSW	16	91893844	intron	probably benign
R5161:Itsn1	UTSW	16	91908838	missense	possibly damaging	0.95
R5437:Itsn1	UTSW	16	91818591	intron	probably benign
R5538:Itsn1	UTSW	16	91784102	missense	probably damaging	1.00
R5683:Itsn1	UTSW	16	91905380	missense	probably benign	0.00
R5697:Itsn1	UTSW	16	91801589	missense	possibly damaging	0.56
R6083:Itsn1	UTSW	16	91853011	missense	probably benign	0.01
R6148:Itsn1	UTSW	16	91816852	missense	probably damaging	1.00
R6291:Itsn1	UTSW	16	91868096	intron	probably benign
R6524:Itsn1	UTSW	16	91911995	missense	probably damaging	0.96
R7175:Itsn1	UTSW	16	91868050	missense	unknown
R7261:Itsn1	UTSW	16	91905306	missense	probably benign	0.00
R7320:Itsn1	UTSW	16	91839699	missense	unknown
R7366:Itsn1	UTSW	16	91908450	missense	unknown
R7462:Itsn1	UTSW	16	91853185	missense	possibly damaging	0.53
R7665:Itsn1	UTSW	16	91841603	missense	unknown
R7720:Itsn1	UTSW	16	91868083	missense	unknown
R7856:Itsn1	UTSW	16	91908487	critical splice donor site	probably null
R7864:Itsn1	UTSW	16	91801566	missense	possibly damaging	0.47
R7896:Itsn1	UTSW	16	91818558	missense	unknown
R7897:Itsn1	UTSW	16	91818558	missense	unknown
R7980:Itsn1	UTSW	16	91905294	missense	unknown
R7998:Itsn1	UTSW	16	91850936	missense	unknown
R8075:Itsn1	UTSW	16	91889209	missense	unknown
R8144:Itsn1	UTSW	16	91912005	missense	unknown
R8160:Itsn1	UTSW	16	91818558	missense	unknown
R8161:Itsn1	UTSW	16	91818558	missense	unknown
R8176:Itsn1	UTSW	16	91848709	splice site	probably null
R8215:Itsn1	UTSW	16	91812108	missense	probably damaging	0.99
R8385:Itsn1	UTSW	16	91893811	missense	unknown
R8725:Itsn1	UTSW	16	91839833	missense	unknown
R9012:Itsn1	UTSW	16	91848961	missense	unknown
R9039:Itsn1	UTSW	16	91906770	missense	unknown
R9092:Itsn1	UTSW	16	91812114	missense	possibly damaging	0.86
R9134:Itsn1	UTSW	16	91869626	missense	unknown
R9401:Itsn1	UTSW	16	91815520	missense	probably damaging	1.00
R9449:Itsn1	UTSW	16	91828376	makesense	probably null
R9568:Itsn1	UTSW	16	91852894	missense	probably benign
R9616:Itsn1	UTSW	16	91853167	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CACCTGCCGTCTAGATTACTGG -3'
(R):5'- CTCATGCCAGATGTCTAACTTTTG -3'

Sequencing Primer
(F):5'- CTAGATTACTGGGTTGCACGCAC -3'
(R):5'- ATGATACCACTGCAGTGG -3'

Posted On

2016-11-21