Mutagenetix > Incidental Mutation

Incidental Mutation 'R1482:Clhc1'

164461

Institutional Source

Beutler Lab

Gene Symbol

Clhc1

Ensembl Gene

ENSMUSG00000020461

Gene Name

clathrin heavy chain linker domain containing 1

Synonyms

1700034F02Rik

MMRRC Submission

039535-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29547950-29578367 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29553725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 47 (D47G)

Ref Sequence

ENSEMBL: ENSMUSP00000147007 (fasta)

Gene Model

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

AlphaFold

Q5M6W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020753
AA Change: D47G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: D47G

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: ENSMUST00000118692

Predicted Effect

probably damaging
Transcript: ENSMUST00000208530
AA Change: D47G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,717,192	D260N	probably benign	Het
AI314180	T	C	4: 58,820,163	K1217E	possibly damaging	Het
Ankef1	A	T	2: 136,550,158	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Aqp6	A	T	15: 99,604,307	*294C	probably null	Het
Baz2a	T	A	10: 128,109,008	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,427,302	D151G	probably damaging	Het
Cabp5	T	A	7: 13,398,342	L12*	probably null	Het
Cachd1	T	C	4: 100,988,598	V993A	possibly damaging	Het
Cd44	G	A	2: 102,831,383	T306I	probably damaging	Het
Cdc20	A	T	4: 118,437,056	N22K	probably benign	Het
Cdc6	T	A	11: 98,916,981	D433E	possibly damaging	Het
Csf2	T	C	11: 54,248,563	K65E	probably benign	Het
Cul9	T	C	17: 46,508,547	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,467,820	R144L	possibly damaging	Het
Dcpp2	C	T	17: 23,900,542	T110I	probably damaging	Het
Disp1	A	T	1: 183,086,474	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,294,874	G1562D	probably damaging	Het
Exoc3l2	C	A	7: 19,495,359	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,701,539	V364A	probably benign	Het
Fam151a	T	C	4: 106,745,679	L265P	probably damaging	Het
Fam151b	T	A	13: 92,450,166	Q253L	probably benign	Het
Fat1	G	A	8: 44,953,244	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,145,984	R274*	probably null	Het
Fgd4	G	T	16: 16,484,473	Q73K	probably benign	Het
Fth1	A	G	19: 9,984,853	T154A	probably benign	Het
Hgs	C	A	11: 120,480,040	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,489,948	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,624,897	V1204M	probably damaging	Het
Keg1	A	C	19: 12,718,821	H166P	probably damaging	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,685,284	D74V	probably damaging	Het
Lman2	A	G	13: 55,351,405	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,826,590	I173T	possibly damaging	Het
Mov10	G	T	3: 104,804,546	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,536,847	A286S	probably damaging	Het
Mtmr10	A	G	7: 64,314,249	Y244C	probably damaging	Het
Nbea	A	T	3: 56,079,993	C359S	probably damaging	Het
Nbr1	C	T	11: 101,572,841	T633I	probably benign	Het
Nepn	A	T	10: 52,400,416	T22S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,737,972	L342M	probably damaging	Het
Olfr691	T	A	7: 105,337,256	R153S	probably damaging	Het
Olfr699	A	G	7: 106,790,333	F223L	probably benign	Het
Olfr775	T	A	10: 129,251,143	I203N	possibly damaging	Het
Olfr872	G	A	9: 20,260,724	V295I	possibly damaging	Het
Oxnad1	T	C	14: 32,099,633		probably null	Het
Pard3b	A	T	1: 62,166,367	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,263,516	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,574,278	D169G	probably damaging	Het
Scn3b	A	C	9: 40,279,496	D74A	probably damaging	Het
Setbp1	C	T	18: 79,086,835	D61N	probably damaging	Het
Setx	T	A	2: 29,162,992	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,406,874	W685C	probably damaging	Het
Vps8	A	G	16: 21,581,598	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,269,636	F699L	probably damaging	Het
Zfp616	T	A	11: 74,083,977	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,115,448	D307E	possibly damaging	Het
Zfp687	A	G	3: 95,007,533	F1219S	probably damaging	Het
Zfpm2	T	A	15: 41,099,291	D248E	probably 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
R0553:Clhc1	UTSW	11	29561366	splice site	probably benign
R1313:Clhc1	UTSW	11	29571678	missense	probably benign
R1313:Clhc1	UTSW	11	29571678	missense	probably benign
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
R9752:Clhc1	UTSW	11	29557778	missense	probably benign	0.13
X0023:Clhc1	UTSW	11	29569305	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTTTGGCTTTATGGCAAAAGAAGG -3'
(R):5'- CCAGAGGGTACAAACCAGTTATTGGG -3'

Sequencing Primer
(F):5'- GAAGGTCAAGGTTTAATTTTTCTCCG -3'
(R):5'- CTAGCCTAACTAGTCATCAGGAAATG -3'

Posted On

2014-03-28