Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Clint1'

692608

Institutional Source

Beutler Lab

Gene Symbol

Clint1

Ensembl Gene

ENSMUSG00000006169

Gene Name

clathrin interactor 1

Synonyms

C530049I24Rik, Epn4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45742797-45801452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45781562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 211 (T211A)

Ref Sequence

ENSEMBL: ENSMUSP00000104883 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109260
AA Change: T211A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: T211A

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

possibly damaging
Transcript: ENSMUST00000109261
AA Change: T211A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: T211A

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Agfg1	T	G	1: 82,872,216 (GRCm39)	F516L	possibly damaging	Het
Akap5	T	A	12: 76,374,592 (GRCm39)	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,342,545 (GRCm39)	V535I	probably benign	Het
Atg3	T	C	16: 45,006,564 (GRCm39)	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,588,534 (GRCm39)	P168L	probably damaging	Het
Ccr7	A	G	11: 99,036,086 (GRCm39)	Y279H	probably damaging	Het
Cfap210	G	T	2: 69,612,103 (GRCm39)	S175*	probably null	Het
Dchs2	T	G	3: 83,176,662 (GRCm39)	D873E	probably benign	Het
Dhx30	A	G	9: 109,926,164 (GRCm39)	L149P	probably damaging	Het
Dnah1	T	C	14: 31,033,581 (GRCm39)		probably benign	Het
Dtx1	A	G	5: 120,848,356 (GRCm39)	V8A	probably benign	Het
Enpp3	T	A	10: 24,702,078 (GRCm39)	K91N	possibly damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,518,616 (GRCm39)	E308G	probably damaging	Het
Foxb2	T	C	19: 16,850,758 (GRCm39)	K83E	unknown	Het
Git2	A	G	5: 114,887,621 (GRCm39)		probably null	Het
Gm10024	T	C	10: 77,547,339 (GRCm39)	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422 (GRCm39)	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Herc4	C	A	10: 63,126,300 (GRCm39)	L551I	probably benign	Het
Igfn1	T	A	1: 135,902,528 (GRCm39)	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Jag2	G	T	12: 112,877,279 (GRCm39)	Y697*	probably null	Het
Kif1c	T	C	11: 70,595,798 (GRCm39)	V168A	probably damaging	Het
Lipn	T	C	19: 34,046,041 (GRCm39)	W5R	probably damaging	Het
Mavs	G	A	2: 131,087,245 (GRCm39)	A248T	probably benign	Het
Megf10	G	A	18: 57,392,773 (GRCm39)	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023 (GRCm39)	H653R	probably benign	Het
Mrps9	T	G	1: 42,942,537 (GRCm39)	S332A	probably benign	Het
Muc5b	T	C	7: 141,423,070 (GRCm39)	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,800,451 (GRCm39)	T1002M	probably benign	Het
Nav3	T	A	10: 109,520,100 (GRCm39)	M2328L	probably benign	Het
Or5h18	T	C	16: 58,847,653 (GRCm39)	I206V	probably benign	Het
Or8b52	T	A	9: 38,577,106 (GRCm39)	E11D	probably benign	Het
Pawr	T	C	10: 108,169,140 (GRCm39)	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,608,090 (GRCm39)	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,624,905 (GRCm39)	D1250G	probably benign	Het
Ptprs	T	A	17: 56,742,853 (GRCm39)	M430L	possibly damaging	Het
Raly	T	A	2: 154,703,785 (GRCm39)	S119T	probably damaging	Het
Serpinb6a	A	T	13: 34,109,412 (GRCm39)	S128T	probably benign	Het
Sirt3	C	T	7: 140,449,362 (GRCm39)		probably benign	Het
Slc22a7	A	G	17: 46,748,029 (GRCm39)	F210L	probably damaging	Het
Speg	G	T	1: 75,364,444 (GRCm39)	S275I	probably damaging	Het
Stk32c	C	T	7: 138,768,141 (GRCm39)	D47N	unknown	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Sun2	T	C	15: 79,614,517 (GRCm39)	H295R	probably benign	Het
Syne1	T	C	10: 5,053,667 (GRCm39)	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,666,126 (GRCm39)	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943 (GRCm39)		probably benign	Het
Trim50	A	G	5: 135,382,537 (GRCm39)	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,801,154 (GRCm39)	V189A	probably benign	Het
Zfat	C	A	15: 68,058,918 (GRCm39)	A206S	probably damaging	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
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
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'- CCGTCCGTATTAGAAGGAAGGG -3'
(R):5'- TTTGACATGGTAACCTCCAGC -3'

Sequencing Primer
(F):5'- TCCGTATTAGAAGGAAGGGCACTG -3'
(R):5'- TGGTAACCTCCAGCATAAACTGTAG -3'

Posted On

2021-12-30