Mutagenetix > Incidental Mutation

Incidental Mutation 'R8769:Clhc1'

664302

Institutional Source

Beutler Lab

Gene Symbol

Clhc1

Ensembl Gene

ENSMUSG00000020461

Gene Name

clathrin heavy chain linker domain containing 1

Synonyms

1700034F02Rik

MMRRC Submission

068624-MU

Accession Numbers

Essential gene?

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

Stock #

R8769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29497950-29528360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29511401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 293 (E293K)

Ref Sequence

ENSEMBL: ENSMUSP00000020753 (fasta)

Gene Model

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

AlphaFold

Q5M6W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020753
AA Change: E293K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: E293K

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

probably damaging
Transcript: ENSMUST00000208530
AA Change: E282K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,446,589 (GRCm39)	N289K	unknown	Het
Adgrl2	T	C	3: 148,522,917 (GRCm39)	I436V		Het
Agbl3	C	T	6: 34,834,549 (GRCm39)	S911L	probably damaging	Het
Ampd2	C	T	3: 107,982,613 (GRCm39)	M714I	probably damaging	Het
Asb6	T	C	2: 30,718,143 (GRCm39)	D19G	possibly damaging	Het
Atosa	C	A	9: 74,933,107 (GRCm39)	L1025I	probably damaging	Het
Bbx	T	C	16: 50,061,227 (GRCm39)	Q298R	probably damaging	Het
Bcl9l	T	A	9: 44,420,263 (GRCm39)	M1223K	probably benign	Het
Ccr3	T	A	9: 123,829,096 (GRCm39)	F144I	possibly damaging	Het
Cfap74	T	A	4: 155,503,105 (GRCm39)	F32L		Het
Col22a1	A	T	15: 71,878,571 (GRCm39)	D195E	probably benign	Het
Cttnbp2	T	A	6: 18,376,003 (GRCm39)	D1512V	probably damaging	Het
Cul9	T	C	17: 46,832,828 (GRCm39)	T1372A	possibly damaging	Het
Dyrk4	G	T	6: 126,857,208 (GRCm39)	D490E	possibly damaging	Het
E4f1	C	T	17: 24,663,574 (GRCm39)	V626M	probably damaging	Het
Edc3	C	T	9: 57,634,678 (GRCm39)	R232C	probably damaging	Het
Eppk1	A	G	15: 75,994,895 (GRCm39)	I662T	probably benign	Het
G3bp2	C	T	5: 92,231,356 (GRCm39)		probably benign	Het
Grik3	T	C	4: 125,550,166 (GRCm39)	L397P	probably damaging	Het
Hectd4	A	G	5: 121,419,936 (GRCm39)	N627S	possibly damaging	Het
Hecw2	C	T	1: 53,952,507 (GRCm39)	V909I	probably benign	Het
Hsd17b12	A	T	2: 93,945,397 (GRCm39)	M75K	probably damaging	Het
Htt	C	T	5: 34,977,633 (GRCm39)	T809I	probably benign	Het
Itih1	A	G	14: 30,655,381 (GRCm39)	S609P	probably damaging	Het
Klk1b9	T	A	7: 43,629,666 (GRCm39)	C234S	probably damaging	Het
Lrrc37a	A	G	11: 103,389,536 (GRCm39)	L1963P	probably benign	Het
Lypd3	C	A	7: 24,337,932 (GRCm39)	H99Q	probably damaging	Het
Mdn1	C	A	4: 32,751,390 (GRCm39)	H4593Q	probably damaging	Het
Mroh1	A	G	15: 76,297,126 (GRCm39)	S325G	probably benign	Het
Muc5ac	G	A	7: 141,372,609 (GRCm39)	G3452R	probably damaging	Het
Myrfl	A	T	10: 116,612,696 (GRCm39)	D884E	probably damaging	Het
Nbeal1	T	A	1: 60,274,370 (GRCm39)	H260Q	probably damaging	Het
Ngef	A	G	1: 87,408,883 (GRCm39)	L519P	probably damaging	Het
Or5ac20	A	G	16: 59,104,194 (GRCm39)	L222P	probably damaging	Het
Or5b102	T	A	19: 13,041,307 (GRCm39)	C177*	probably null	Het
Or5w1b	A	T	2: 87,475,960 (GRCm39)	F169Y	probably damaging	Het
Pcca	A	G	14: 122,854,260 (GRCm39)	K184R	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp6r1	A	T	7: 4,644,289 (GRCm39)	V379E	probably benign	Het
Prkca	A	T	11: 107,842,286 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,100,442 (GRCm39)	E1982G	probably damaging	Het
Rad21l	T	C	2: 151,509,838 (GRCm39)	T88A	probably benign	Het
Rpgrip1l	T	C	8: 91,979,212 (GRCm39)		probably benign	Het
Sec62	T	C	3: 30,864,177 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,670,086 (GRCm39)	R256Q	possibly damaging	Het
Slc43a2	G	T	11: 75,434,192 (GRCm39)		probably null	Het
Smarcd3	T	C	5: 24,803,792 (GRCm39)	M30V	probably benign	Het
Tes3-ps	T	A	13: 49,647,356 (GRCm39)	D77E	probably benign	Het
Thbs3	G	A	3: 89,131,937 (GRCm39)		probably benign	Het
Trpm2	A	T	10: 77,768,128 (GRCm39)	N790K	probably benign	Het
Ttc13	A	T	8: 125,405,816 (GRCm39)	N492K	possibly damaging	Het
Ttc39c	T	C	18: 12,828,545 (GRCm39)	L235P	probably damaging	Het
Tyms	T	C	5: 30,278,360 (GRCm39)		probably benign	Het
Whamm	A	T	7: 81,234,933 (GRCm39)	K333*	probably null	Het
Ydjc	A	G	16: 16,968,732 (GRCm39)	I224V	probably benign	Het
Zc3hav1	C	T	6: 38,313,416 (GRCm39)	D210N	possibly damaging	Het
Zfp735	G	A	11: 73,581,127 (GRCm39)	E55K	possibly 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
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
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
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'- TTCTTGAGACTGAGGCCACG -3'
(R):5'- TGAACTGCTATCCCAATGACC -3'

Sequencing Primer
(F):5'- CCACGGAGGGGAAGTGACTC -3'
(R):5'- CAAGGCCATCCTATATTTGGTAGTG -3'

Posted On

2021-03-08