Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Clint1'

199730

Institutional Source

Beutler Lab

Gene Symbol

Clint1

Ensembl Gene

ENSMUSG00000006169

Gene Name

clathrin interactor 1

Synonyms

C530049I24Rik, Epn4

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

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

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45742797-45801452 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 45797004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104884 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000109260

SMART Domains

Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169

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 null
Transcript: ENSMUST00000109261

SMART Domains

Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169

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

probably null
Transcript: ENSMUST00000109261

SMART Domains

Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169

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

Meta Mutation Damage Score

0.0690

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	probably benign	Het

Other mutations in Clint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Clint1	APN	11	45,799,846 (GRCm39)	missense	probably benign	0.20
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTATCATGCACAGGTCTCCCAAG -3'
(R):5'- GCAAACCAAGTCCCACGGTGTTAG -3'

Sequencing Primer
(F):5'- ACAGGTCTCCCAAGAGGTG -3'
(R):5'- ATTCATGCTCTGGGAAGACG -3'

Posted On

2014-05-23