Mutagenetix > Incidental Mutation

Incidental Mutation 'R6500:Clhc1'

519682

Institutional Source

Beutler Lab

Gene Symbol

Clhc1

Ensembl Gene

ENSMUSG00000020461

Gene Name

clathrin heavy chain linker domain containing 1

Synonyms

1700034F02Rik

MMRRC Submission

044632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29497950-29528360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29510542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 209 (S209P)

Ref Sequence

ENSEMBL: ENSMUSP00000020753 (fasta)

Gene Model

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

AlphaFold

Q5M6W3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020753
AA Change: S209P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: S209P

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

possibly damaging
Transcript: ENSMUST00000208530
AA Change: S198P

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,606,380 (GRCm39)	F461L	probably benign	Het
Adamtsl3	C	A	7: 82,227,818 (GRCm39)	H1334Q	probably benign	Het
Adgrf1	A	G	17: 43,621,263 (GRCm39)	N500S	probably damaging	Het
Afdn	A	G	17: 14,042,634 (GRCm39)	D335G	possibly damaging	Het
Arhgap19	G	A	19: 41,775,077 (GRCm39)	T178M	probably damaging	Het
Chac2	T	C	11: 30,927,625 (GRCm39)	D86G	probably damaging	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Coro2b	A	G	9: 62,396,606 (GRCm39)	F51L	probably benign	Het
Cux2	A	G	5: 122,002,789 (GRCm39)	S1139P	probably benign	Het
Cyth3	A	T	5: 143,693,595 (GRCm39)	I379F	probably damaging	Het
Dock2	A	T	11: 34,312,822 (GRCm39)	L240H	possibly damaging	Het
Ercc6	A	G	14: 32,248,780 (GRCm39)	K444E	probably damaging	Het
Fam3b	A	G	16: 97,302,101 (GRCm39)	L52P	possibly damaging	Het
Fat4	T	G	3: 39,035,418 (GRCm39)	Y3023*	probably null	Het
Gad1	A	T	2: 70,423,780 (GRCm39)	N396Y	probably damaging	Het
Gbp2b	A	G	3: 142,317,252 (GRCm39)	E536G	probably benign	Het
Gm11564	G	A	11: 99,706,061 (GRCm39)	T123I	unknown	Het
Herc2	G	T	7: 55,796,393 (GRCm39)	E1922*	probably null	Het
Hrh4	G	T	18: 13,155,525 (GRCm39)	V355F	probably damaging	Het
Isyna1	A	G	8: 71,047,339 (GRCm39)	I21V	probably damaging	Het
Jak1	T	C	4: 101,039,130 (GRCm39)	D165G	probably benign	Het
Klhl38	C	A	15: 58,185,809 (GRCm39)	G307*	probably null	Het
Krt77	T	C	15: 101,772,772 (GRCm39)	N269S	probably damaging	Het
Lrp4	T	A	2: 91,322,765 (GRCm39)	I1118N	possibly damaging	Het
Ly6i	T	C	15: 74,853,833 (GRCm39)	Y30C	probably damaging	Het
Magi2	A	G	5: 20,807,345 (GRCm39)	E620G	possibly damaging	Het
Mbl2	A	G	19: 30,216,839 (GRCm39)	D217G	possibly damaging	Het
Mogat2	T	A	7: 98,871,553 (GRCm39)	I253F	probably benign	Het
Mpped2	T	C	2: 106,691,925 (GRCm39)	L210P	probably damaging	Het
Nav3	C	A	10: 109,600,617 (GRCm39)	A1337S	probably damaging	Het
Ncaph2	T	A	15: 89,248,407 (GRCm39)	V206E	probably benign	Het
Nlgn1	T	C	3: 25,488,094 (GRCm39)	E747G	possibly damaging	Het
Nlrc3	C	T	16: 3,770,308 (GRCm39)	G237D	possibly damaging	Het
Nsun7	A	G	5: 66,452,827 (GRCm39)	D514G	probably benign	Het
Or10al5	C	G	17: 38,063,577 (GRCm39)	D277E	probably damaging	Het
Pals2	A	G	6: 50,175,146 (GRCm39)	K500E	possibly damaging	Het
Pcnx2	C	A	8: 126,480,224 (GRCm39)	V2028F	probably damaging	Het
Pdx1	G	T	5: 147,207,440 (GRCm39)	W131L	probably damaging	Het
Pkdrej	C	T	15: 85,703,747 (GRCm39)	V730I	probably damaging	Het
Plcg1	T	A	2: 160,596,487 (GRCm39)	Y669N	probably damaging	Het
Plpp1	G	T	13: 113,003,454 (GRCm39)	W226L	probably damaging	Het
Sfxn1	G	A	13: 54,242,918 (GRCm39)	V59I	probably benign	Het
Shank1	T	C	7: 43,976,645 (GRCm39)	I581T	unknown	Het
Slc35f6	A	C	5: 30,814,164 (GRCm39)	K150N	possibly damaging	Het
Slc5a7	A	T	17: 54,591,231 (GRCm39)	S234T	probably benign	Het
Smg6	C	T	11: 74,821,331 (GRCm39)	T534I	possibly damaging	Het
Ush2a	C	T	1: 188,573,724 (GRCm39)	T3649I	probably benign	Het
Vmn1r158	T	C	7: 22,490,078 (GRCm39)	T44A	possibly damaging	Het
Vmn1r217	A	T	13: 23,298,073 (GRCm39)	Y276*	probably null	Het
Vmn2r100	T	A	17: 19,742,355 (GRCm39)	I243N	probably damaging	Het
Vwde	T	C	6: 13,208,404 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,394,687 (GRCm39)	P306T	probably damaging	Het
Wdhd1	C	T	14: 47,488,217 (GRCm39)		probably null	Het
Xpo6	T	C	7: 125,770,262 (GRCm39)		probably benign	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
R1482:Clhc1	UTSW	11	29,503,725 (GRCm39)	missense	probably damaging	1.00
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
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'- TTGGTAAGCTTCAAGTACCTGTTAG -3'
(R):5'- AACCTGCAGTCTTTGATGGC -3'

Sequencing Primer
(F):5'- GCTTCAAGTACCTGTTAGTATTTCTG -3'
(R):5'- TCTTTGATGGCTGCAAAAGAGCAC -3'

Posted On

2018-06-06