Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Clhc1'

45293

Institutional Source

Beutler Lab

Gene Symbol

Clhc1

Ensembl Gene

ENSMUSG00000020461

Gene Name

clathrin heavy chain linker domain containing 1

Synonyms

1700034F02Rik

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29547950-29578367 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 29561366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020753] [ENSMUST00000208530]

AlphaFold

Q5M6W3

Predicted Effect

probably benign
Transcript: ENSMUST00000020753

SMART Domains

Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461

Domain	Start	End	E-Value	Type
Pfam:TSNAXIP1_N	28	152	2.6e-26	PFAM
Pfam:Clathrin_H_link	302	365	3.7e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131366

Predicted Effect

probably benign
Transcript: ENSMUST00000208530

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Clhc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Clhc1	APN	11	29571745	missense	probably damaging	0.99
IGL00976:Clhc1	APN	11	29561389	missense	probably benign	0.43
IGL01826:Clhc1	APN	11	29553765	splice site	probably null
IGL02029:Clhc1	APN	11	29560798	missense	probably benign	0.01
IGL02479:Clhc1	APN	11	29578107	missense	probably damaging	0.98
R1313:Clhc1	UTSW	11	29571678	missense	probably benign
R1313:Clhc1	UTSW	11	29571678	missense	probably benign
R1482:Clhc1	UTSW	11	29553725	missense	probably damaging	1.00
R1624:Clhc1	UTSW	11	29569287	missense	possibly damaging	0.85
R1742:Clhc1	UTSW	11	29557647	splice site	probably null
R2094:Clhc1	UTSW	11	29557771	missense	probably benign	0.13
R2130:Clhc1	UTSW	11	29557663	missense	probably benign	0.33
R2237:Clhc1	UTSW	11	29569329	missense	probably benign	0.30
R3814:Clhc1	UTSW	11	29571826	missense	possibly damaging	0.57
R3854:Clhc1	UTSW	11	29571789	missense	probably damaging	1.00
R4417:Clhc1	UTSW	11	29571826	missense	possibly damaging	0.57
R4659:Clhc1	UTSW	11	29578229	makesense	probably null
R5021:Clhc1	UTSW	11	29560627	missense	probably benign	0.01
R5246:Clhc1	UTSW	11	29575434	missense	probably damaging	1.00
R5287:Clhc1	UTSW	11	29578244	utr 3 prime	probably benign
R5657:Clhc1	UTSW	11	29561431	missense	probably benign	0.03
R5771:Clhc1	UTSW	11	29563854	missense	possibly damaging	0.94
R6050:Clhc1	UTSW	11	29561397	missense	possibly damaging	0.76
R6211:Clhc1	UTSW	11	29578145	missense	probably damaging	1.00
R6500:Clhc1	UTSW	11	29560542	missense	possibly damaging	0.87
R6615:Clhc1	UTSW	11	29578149	missense	possibly damaging	0.75
R6944:Clhc1	UTSW	11	29569346	missense	probably damaging	0.97
R7252:Clhc1	UTSW	11	29563937	missense	probably benign	0.01
R7860:Clhc1	UTSW	11	29557651	critical splice acceptor site	probably null
R8221:Clhc1	UTSW	11	29553751	missense	possibly damaging	0.95
R8259:Clhc1	UTSW	11	29553746	missense	probably benign	0.37
R8769:Clhc1	UTSW	11	29561401	missense	probably damaging	0.99
R8931:Clhc1	UTSW	11	29560533	nonsense	probably null
X0023:Clhc1	UTSW	11	29569305	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGAGACTGAGGCCACGGAGG -3'
(R):5'- GTACTTGAACTGCTATCCCAATGACCC -3'

Sequencing Primer
(F):5'- CACGGAGGGGAAGTGACTC -3'
(R):5'- tcaggagggaggcagtag -3'

Posted On

2013-06-11