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: 0.063) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29497950-29528360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29503725 bp (GRCm39)

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: 3,767,192 (GRCm39)	D260N	probably benign	Het
Ankef1	A	T	2: 136,392,078 (GRCm39)	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aqp6	A	T	15: 99,502,188 (GRCm39)	*294C	probably null	Het
Baz2a	T	A	10: 127,944,877 (GRCm39)	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,404,265 (GRCm39)	D151G	probably damaging	Het
Cabp5	T	A	7: 13,132,267 (GRCm39)	L12*	probably null	Het
Cachd1	T	C	4: 100,845,795 (GRCm39)	V993A	possibly damaging	Het
Cd44	G	A	2: 102,661,728 (GRCm39)	T306I	probably damaging	Het
Cdc20	A	T	4: 118,294,253 (GRCm39)	N22K	probably benign	Het
Cdc6	T	A	11: 98,807,807 (GRCm39)	D433E	possibly damaging	Het
Csf2	T	C	11: 54,139,389 (GRCm39)	K65E	probably benign	Het
Cul9	T	C	17: 46,819,473 (GRCm39)	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,296,888 (GRCm39)	R144L	possibly damaging	Het
Dcpp2	C	T	17: 24,119,516 (GRCm39)	T110I	probably damaging	Het
Disp1	A	T	1: 182,868,038 (GRCm39)	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,016,831 (GRCm39)	G1562D	probably damaging	Het
Ecpas	T	C	4: 58,820,163 (GRCm39)	K1217E	possibly damaging	Het
Exoc3l2	C	A	7: 19,229,284 (GRCm39)	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,838,047 (GRCm39)	V364A	probably benign	Het
Fam151a	T	C	4: 106,602,876 (GRCm39)	L265P	probably damaging	Het
Fam151b	T	A	13: 92,586,674 (GRCm39)	Q253L	probably benign	Het
Fat1	G	A	8: 45,406,281 (GRCm39)	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,230,441 (GRCm39)	R274*	probably null	Het
Fgd4	G	T	16: 16,302,337 (GRCm39)	Q73K	probably benign	Het
Fth1	A	G	19: 9,962,217 (GRCm39)	T154A	probably benign	Het
Hgs	C	A	11: 120,370,866 (GRCm39)	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,456,207 (GRCm39)	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,552,635 (GRCm39)	V1204M	probably damaging	Het
Keg1	A	C	19: 12,696,185 (GRCm39)	H166P	probably damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,662,218 (GRCm39)	D74V	probably damaging	Het
Lman2	A	G	13: 55,499,218 (GRCm39)	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,662,451 (GRCm39)	I173T	possibly damaging	Het
Mov10	G	T	3: 104,711,862 (GRCm39)	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,486,847 (GRCm39)	A286S	probably damaging	Het
Mtmr10	A	G	7: 63,963,997 (GRCm39)	Y244C	probably damaging	Het
Nbea	A	T	3: 55,987,414 (GRCm39)	C359S	probably damaging	Het
Nbr1	C	T	11: 101,463,667 (GRCm39)	T633I	probably benign	Het
Nepn	A	T	10: 52,276,512 (GRCm39)	T22S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,871,043 (GRCm39)	L342M	probably damaging	Het
Or2ag17	A	G	7: 106,389,540 (GRCm39)	F223L	probably benign	Het
Or52b2	T	A	7: 104,986,463 (GRCm39)	R153S	probably damaging	Het
Or6c205	T	A	10: 129,087,012 (GRCm39)	I203N	possibly damaging	Het
Or7e176	G	A	9: 20,172,020 (GRCm39)	V295I	possibly damaging	Het
Oxnad1	T	C	14: 31,821,590 (GRCm39)		probably null	Het
Pard3b	A	T	1: 62,205,526 (GRCm39)	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960 (GRCm39)	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,139,512 (GRCm39)	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,456,331 (GRCm39)	D169G	probably damaging	Het
Scn3b	A	C	9: 40,190,792 (GRCm39)	D74A	probably damaging	Het
Setbp1	C	T	18: 79,130,050 (GRCm39)	D61N	probably damaging	Het
Setx	T	A	2: 29,053,004 (GRCm39)	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,056,082 (GRCm39)	W685C	probably damaging	Het
Vps8	A	G	16: 21,400,348 (GRCm39)	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,160,462 (GRCm39)	F699L	probably damaging	Het
Zfp616	T	A	11: 73,974,803 (GRCm39)	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,033,685 (GRCm39)	D307E	possibly damaging	Het
Zfp687	A	G	3: 94,914,844 (GRCm39)	F1219S	probably damaging	Het
Zfpm2	T	A	15: 40,962,687 (GRCm39)	D248E	probably damaging	Het

Other mutations in Clhc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Clhc1	APN	11	29,521,745 (GRCm39)	missense	probably damaging	0.99
IGL00976:Clhc1	APN	11	29,511,389 (GRCm39)	missense	probably benign	0.43
IGL01826:Clhc1	APN	11	29,503,765 (GRCm39)	splice site	probably null
IGL02029:Clhc1	APN	11	29,510,798 (GRCm39)	missense	probably benign	0.01
IGL02479:Clhc1	APN	11	29,528,107 (GRCm39)	missense	probably damaging	0.98
R0553:Clhc1	UTSW	11	29,511,366 (GRCm39)	splice site	probably benign
R1313:Clhc1	UTSW	11	29,521,678 (GRCm39)	missense	probably benign
R1313:Clhc1	UTSW	11	29,521,678 (GRCm39)	missense	probably benign
R1624:Clhc1	UTSW	11	29,519,287 (GRCm39)	missense	possibly damaging	0.85
R1742:Clhc1	UTSW	11	29,507,647 (GRCm39)	splice site	probably null
R2094:Clhc1	UTSW	11	29,507,771 (GRCm39)	missense	probably benign	0.13
R2130:Clhc1	UTSW	11	29,507,663 (GRCm39)	missense	probably benign	0.33
R2237:Clhc1	UTSW	11	29,519,329 (GRCm39)	missense	probably benign	0.30
R3814:Clhc1	UTSW	11	29,521,826 (GRCm39)	missense	possibly damaging	0.57
R3854:Clhc1	UTSW	11	29,521,789 (GRCm39)	missense	probably damaging	1.00
R4417:Clhc1	UTSW	11	29,521,826 (GRCm39)	missense	possibly damaging	0.57
R4659:Clhc1	UTSW	11	29,528,229 (GRCm39)	makesense	probably null
R5021:Clhc1	UTSW	11	29,510,627 (GRCm39)	missense	probably benign	0.01
R5246:Clhc1	UTSW	11	29,525,434 (GRCm39)	missense	probably damaging	1.00
R5287:Clhc1	UTSW	11	29,528,244 (GRCm39)	utr 3 prime	probably benign
R5657:Clhc1	UTSW	11	29,511,431 (GRCm39)	missense	probably benign	0.03
R5771:Clhc1	UTSW	11	29,513,854 (GRCm39)	missense	possibly damaging	0.94
R6050:Clhc1	UTSW	11	29,511,397 (GRCm39)	missense	possibly damaging	0.76
R6211:Clhc1	UTSW	11	29,528,145 (GRCm39)	missense	probably damaging	1.00
R6500:Clhc1	UTSW	11	29,510,542 (GRCm39)	missense	possibly damaging	0.87
R6615:Clhc1	UTSW	11	29,528,149 (GRCm39)	missense	possibly damaging	0.75
R6944:Clhc1	UTSW	11	29,519,346 (GRCm39)	missense	probably damaging	0.97
R7252:Clhc1	UTSW	11	29,513,937 (GRCm39)	missense	probably benign	0.01
R7860:Clhc1	UTSW	11	29,507,651 (GRCm39)	critical splice acceptor site	probably null
R8221:Clhc1	UTSW	11	29,503,751 (GRCm39)	missense	possibly damaging	0.95
R8259:Clhc1	UTSW	11	29,503,746 (GRCm39)	missense	probably benign	0.37
R8769:Clhc1	UTSW	11	29,511,401 (GRCm39)	missense	probably damaging	0.99
R8931:Clhc1	UTSW	11	29,510,533 (GRCm39)	nonsense	probably null
R9752:Clhc1	UTSW	11	29,507,778 (GRCm39)	missense	probably benign	0.13
X0023:Clhc1	UTSW	11	29,519,305 (GRCm39)	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