Mutagenetix > Incidental Mutation

Incidental Mutation 'R9021:Clint1'

686226

Institutional Source

Beutler Lab

Gene Symbol

Clint1

Ensembl Gene

ENSMUSG00000006169

Gene Name

clathrin interactor 1

Synonyms

C530049I24Rik, Epn4

MMRRC Submission

068851-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R9021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45742797-45801452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45797042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 374 (S374R)

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: S374R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: S374R

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: S374R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: S374R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (64/65)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,864 (GRCm39)	D770G	possibly damaging	Het
Amph	G	A	13: 19,284,071 (GRCm39)	G200D	probably benign	Het
Asap2	T	A	12: 21,253,999 (GRCm39)	L170H	possibly damaging	Het
Asap3	T	C	4: 135,966,299 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,094,712 (GRCm39)	M595K	probably benign	Het
Bltp1	T	A	3: 37,052,493 (GRCm39)	D3064E	probably benign	Het
Ccnf	A	T	17: 24,445,679 (GRCm39)	Y522*	probably null	Het
Ceacam5	A	T	7: 17,448,877 (GRCm39)	Y81F	possibly damaging	Het
Chd2	A	T	7: 73,091,393 (GRCm39)	M1616K	probably benign	Het
Col6a6	A	T	9: 105,586,745 (GRCm39)	F1759I	possibly damaging	Het
Crocc	T	A	4: 140,749,674 (GRCm39)	I1487F	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,402,490 (GRCm39)	I1230T	probably benign	Het
Dsp	A	T	13: 38,380,808 (GRCm39)	I2518L	possibly damaging	Het
Eps8l2	G	T	7: 140,936,117 (GRCm39)	V224L	possibly damaging	Het
Etv1	T	C	12: 38,830,971 (GRCm39)	V13A	probably benign	Het
Fam78a	T	C	2: 31,959,313 (GRCm39)	M266V	probably benign	Het
Fam81a	A	G	9: 70,017,538 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,709,620 (GRCm39)	I245V	probably damaging	Het
Flot2	T	C	11: 77,949,805 (GRCm39)	V378A	probably benign	Het
Fras1	T	A	5: 96,888,609 (GRCm39)	S2718R	probably damaging	Het
Gata3os	T	A	2: 9,887,345 (GRCm39)		probably benign	Het
Gm14305	A	G	2: 176,413,167 (GRCm39)	K353R	possibly damaging	Het
Inppl1	A	C	7: 101,480,915 (GRCm39)	V315G	probably damaging	Het
Kbtbd6	A	T	14: 79,690,822 (GRCm39)	I506F	probably damaging	Het
Klf6	G	C	13: 5,915,160 (GRCm39)	G200R	probably benign	Het
Lrp6	A	G	6: 134,518,930 (GRCm39)	I45T	probably benign	Het
Lrriq4	T	G	3: 30,704,401 (GRCm39)	V143G	probably benign	Het
Map2k2	G	T	10: 80,955,159 (GRCm39)	G217C	probably damaging	Het
Mcm10	T	C	2: 4,997,782 (GRCm39)	N813S	probably benign	Het
Mfng	T	A	15: 78,657,348 (GRCm39)	N42I	probably benign	Het
Mical1	A	G	10: 41,361,141 (GRCm39)	D808G	probably benign	Het
Mmp14	T	C	14: 54,673,632 (GRCm39)	F99L	probably benign	Het
Mroh8	A	T	2: 157,064,787 (GRCm39)	V763E	probably benign	Het
Mycbp2	G	T	14: 103,551,752 (GRCm39)	P193T	probably benign	Het
Myo1b	T	C	1: 51,821,142 (GRCm39)	D447G	possibly damaging	Het
Myoz2	T	A	3: 122,807,284 (GRCm39)		probably benign	Het
Narf	C	A	11: 121,136,209 (GRCm39)	P195Q	probably damaging	Het
Nfatc3	T	A	8: 106,818,745 (GRCm39)	F496I	probably damaging	Het
Nudt13	A	G	14: 20,360,772 (GRCm39)	Y225C	probably damaging	Het
Or10ab5	A	T	7: 108,245,428 (GRCm39)	Y118*	probably null	Het
Or11h4	T	G	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or2i1	G	T	17: 37,508,380 (GRCm39)	R85S	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdcd2l	A	G	7: 33,885,760 (GRCm39)	L308P	probably damaging	Het
Pitx2	T	A	3: 129,008,432 (GRCm39)		probably null	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Poc1b	A	G	10: 98,980,183 (GRCm39)	N180S	possibly damaging	Het
Poln	T	A	5: 34,286,485 (GRCm39)	M228L	probably benign	Het
Prex1	C	A	2: 166,432,429 (GRCm39)	V707F	possibly damaging	Het
Rasal2	A	T	1: 157,058,514 (GRCm39)	V12D	unknown	Het
Ripk1	A	G	13: 34,205,373 (GRCm39)	E284G	probably benign	Het
Rpa2	T	C	4: 132,499,251 (GRCm39)	W107R	probably damaging	Het
Selp	A	G	1: 163,954,177 (GRCm39)	Y159C	probably damaging	Het
Serpina1a	A	T	12: 103,824,293 (GRCm39)	W30R	probably benign	Het
Skic2	A	G	17: 35,065,579 (GRCm39)	V325A	probably damaging	Het
Slco6d1	A	G	1: 98,371,396 (GRCm39)	R294G	probably benign	Het
Supt5	A	T	7: 28,016,671 (GRCm39)	I737N	probably damaging	Het
Thap11	T	C	8: 106,582,660 (GRCm39)	V223A	probably damaging	Het
Trabd	T	A	15: 88,968,913 (GRCm39)	S144T	possibly damaging	Het
Trim24	T	A	6: 37,933,949 (GRCm39)	S701T	probably damaging	Het
Trim52	C	T	14: 106,344,986 (GRCm39)	P215S	possibly damaging	Het
Vmn1r172	G	T	7: 23,359,749 (GRCm39)	L211F	probably damaging	Het
Vmn2r86	A	C	10: 130,282,934 (GRCm39)	Y561D	probably damaging	Het
Zfp384	C	A	6: 125,013,336 (GRCm39)	A468E		Het
Zfp658	A	G	7: 43,223,381 (GRCm39)	H552R	possibly damaging	Het
Zranb2	T	C	3: 157,250,720 (GRCm39)	V297A	unknown	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
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
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'- TGCCACCTTGGAACACTCTTG -3'
(R):5'- AAGACGTCATGGTTGCCTGG -3'

Sequencing Primer
(F):5'- CACCTTGGAACACTCTTGTAATATTC -3'
(R):5'- GTTGCCTGGGATGAGCC -3'

Posted On

2021-10-11