Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Clint1'

74758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clint1

Ensembl Gene

ENSMUSG00000006169

Gene Name

clathrin interactor 1

Synonyms

C530049I24Rik, Epn4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

45742797-45801452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45799846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 535 (V535A)

Ref Sequence

ENSEMBL: ENSMUSP00000104883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109260] [ENSMUST00000109261]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109260
AA Change: V535A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: V535A

Domain	Start	End	E-Value	Type
ENTH	22	149	2.56e-61	SMART
low complexity region	262	279	N/A	INTRINSIC
low complexity region	311	323	N/A	INTRINSIC
low complexity region	332	357	N/A	INTRINSIC
low complexity region	427	438	N/A	INTRINSIC
low complexity region	540	563	N/A	INTRINSIC
low complexity region	569	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109261
AA Change: V553A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: V553A

Domain	Start	End	E-Value	Type
ENTH	22	149	2.56e-61	SMART
low complexity region	262	279	N/A	INTRINSIC
low complexity region	311	323	N/A	INTRINSIC
low complexity region	332	357	N/A	INTRINSIC
low complexity region	427	438	N/A	INTRINSIC
low complexity region	558	581	N/A	INTRINSIC
low complexity region	587	625	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133715

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 protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cyp2d10	C	T	15: 82,288,042 (GRCm39)	A195T	probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,564,902 (GRCm39)	L438P	probably damaging	Het
Hgd	A	C	16: 37,452,092 (GRCm39)	T374P	possibly damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Necap2	G	A	4: 140,802,276 (GRCm39)	T63I	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,156,304 (GRCm39)	R535H	probably benign	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,535,594 (GRCm39)	D109E	probably damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	probably damaging	Het

Other mutations in Clint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01974:Clint1	APN	11	45,799,862 (GRCm39)	missense	probably benign	0.24
IGL02312:Clint1	APN	11	45,784,883 (GRCm39)	missense	probably damaging	1.00
R1440:Clint1	UTSW	11	45,781,610 (GRCm39)	missense	probably damaging	1.00
R1720:Clint1	UTSW	11	45,778,237 (GRCm39)	missense	probably damaging	0.99
R1722:Clint1	UTSW	11	45,797,233 (GRCm39)	missense	possibly damaging	0.68
R1736:Clint1	UTSW	11	45,797,004 (GRCm39)	splice site	probably null
R2012:Clint1	UTSW	11	45,784,919 (GRCm39)	missense	possibly damaging	0.77
R2334:Clint1	UTSW	11	45,799,855 (GRCm39)	missense	probably damaging	0.97
R5260:Clint1	UTSW	11	45,798,769 (GRCm39)	missense	probably damaging	1.00
R5413:Clint1	UTSW	11	45,777,307 (GRCm39)	missense	probably damaging	1.00
R6331:Clint1	UTSW	11	45,785,908 (GRCm39)	missense	probably benign	0.14
R7343:Clint1	UTSW	11	45,774,590 (GRCm39)	missense	probably damaging	1.00
R7507:Clint1	UTSW	11	45,799,776 (GRCm39)	missense	possibly damaging	0.94
R8045:Clint1	UTSW	11	45,781,566 (GRCm39)	missense	possibly damaging	0.91
R8090:Clint1	UTSW	11	45,778,267 (GRCm39)	missense	probably damaging	1.00
R8488:Clint1	UTSW	11	45,781,457 (GRCm39)	missense	probably damaging	1.00
R8795:Clint1	UTSW	11	45,775,178 (GRCm39)	missense	probably damaging	0.98
R9021:Clint1	UTSW	11	45,797,042 (GRCm39)	missense	probably benign	0.00
R9034:Clint1	UTSW	11	45,799,783 (GRCm39)	missense	possibly damaging	0.56
R9034:Clint1	UTSW	11	45,799,782 (GRCm39)	missense	probably benign	0.00
R9117:Clint1	UTSW	11	45,781,562 (GRCm39)	missense	probably damaging	0.98
R9215:Clint1	UTSW	11	45,774,578 (GRCm39)	missense	probably damaging	1.00
R9380:Clint1	UTSW	11	45,742,988 (GRCm39)	missense	probably benign
R9500:Clint1	UTSW	11	45,797,194 (GRCm39)	missense	possibly damaging	0.94
X0005:Clint1	UTSW	11	45,797,257 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07