Mutagenetix > Incidental Mutations

Incidental Mutation 'R5161:Itsn1'

397022

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

042743-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91729281-91920597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91908838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 169 (C169Y)

Ref Sequence

ENSEMBL: ENSMUSP00000156129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064797] [ENSMUST00000114002] [ENSMUST00000137575] [ENSMUST00000141625] [ENSMUST00000159295] [ENSMUST00000231735] [ENSMUST00000231852]

AlphaFold

Q9Z0R4

Predicted Effect

unknown
Transcript: ENSMUST00000064797
AA Change: C1609Y

SMART Domains

Protein: ENSMUSP00000066361
Gene: ENSMUSG00000022957
AA Change: C1609Y

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: C1604Y

SMART Domains

Protein: ENSMUSP00000109635
Gene: ENSMUSG00000022957
AA Change: C1604Y

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: C319Y

SMART Domains

Protein: ENSMUSP00000115985
Gene: ENSMUSG00000022957
AA Change: C319Y

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 benign
Transcript: ENSMUST00000137575

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141625
AA Change: C147Y

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115563
Gene: ENSMUSG00000022957
AA Change: C147Y

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

possibly damaging
Transcript: ENSMUST00000231735
AA Change: C169Y

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231852
AA Change: C169Y

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232198

Meta Mutation Damage Score

0.4609

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
4930407I10Rik	G	T	15: 82,063,341	E480*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Atf2	A	C	2: 73,829,790		probably null	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fam69b	C	T	2: 26,636,248	T398M	possibly damaging	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm21994	A	T	2: 150,255,215	I98K	probably damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Pmpca	T	C	2: 26,395,171		probably null	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Syt3	C	A	7: 44,396,015	H560N	possibly damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	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
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
R5749:Itsn1	UTSW	16	91906855	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TCGCATAGATTGTGAGCGTG -3'
(R):5'- ATTAGTGGGACTCAATTTCAGACC -3'

Sequencing Primer
(F):5'- CATAGATTGTGAGCGTGCTGGAAAG -3'
(R):5'- GGACTCAATTTCAGACCCCGTG -3'

Posted On

2016-06-21