Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Klhdc1'

390379

Institutional Source

Beutler Lab

Gene Symbol

Klhdc1

Ensembl Gene

ENSMUSG00000051890

Gene Name

kelch domain containing 1

Synonyms

MMRRC Submission

042600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69287950-69331406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69298712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 99 (V99A)

Ref Sequence

ENSEMBL: ENSMUSP00000134180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063445] [ENSMUST00000173419]

AlphaFold

Q80YG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063445
AA Change: V99A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: V99A

Domain	Start	End	E-Value	Type
Pfam:Kelch_5	11	54	4.4e-11	PFAM
Pfam:Kelch_4	67	122	4.4e-7	PFAM
Pfam:Kelch_6	67	124	1.7e-7	PFAM
Pfam:Kelch_3	79	125	1.8e-8	PFAM
Pfam:Kelch_3	170	205	2.5e-7	PFAM
Pfam:Kelch_2	196	235	2.8e-8	PFAM
Pfam:Kelch_1	196	236	1.4e-6	PFAM
Pfam:Kelch_4	196	245	5.5e-7	PFAM
Pfam:Kelch_3	206	256	3.9e-8	PFAM
Pfam:Kelch_4	247	295	5.3e-10	PFAM
Pfam:Kelch_3	258	307	1.7e-7	PFAM
low complexity region	364	376	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173419
AA Change: V99A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890
AA Change: V99A

Domain	Start	End	E-Value	Type
Pfam:Kelch_5	11	54	4.7e-11	PFAM
Pfam:Kelch_4	67	123	1.7e-8	PFAM
Pfam:Kelch_6	67	124	5.6e-8	PFAM
Pfam:Kelch_1	68	116	3.2e-6	PFAM
Pfam:Kelch_3	78	126	3.1e-9	PFAM
Pfam:Kelch_3	165	205	2.8e-8	PFAM
Pfam:Kelch_5	193	237	2.7e-6	PFAM
Pfam:Kelch_2	196	235	1.8e-8	PFAM
Pfam:Kelch_6	196	237	2.6e-8	PFAM
Pfam:Kelch_4	196	245	2e-7	PFAM
Pfam:Kelch_3	206	256	2.1e-7	PFAM
Pfam:Kelch_5	245	285	2.4e-6	PFAM
Pfam:Kelch_4	247	299	3.5e-11	PFAM
Pfam:Kelch_6	247	299	3.2e-8	PFAM
Pfam:Kelch_3	258	301	1.2e-7	PFAM

Meta Mutation Damage Score

0.0941

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	Het

Other mutations in Klhdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Klhdc1	APN	12	69,288,782 (GRCm39)	missense	possibly damaging	0.92
IGL01432:Klhdc1	APN	12	69,298,751 (GRCm39)	missense	probably damaging	0.97
IGL02086:Klhdc1	APN	12	69,329,958 (GRCm39)	missense	probably benign	0.18
IGL02212:Klhdc1	APN	12	69,297,540 (GRCm39)	missense	probably damaging	1.00
IGL02548:Klhdc1	APN	12	69,300,492 (GRCm39)	missense	probably benign	0.00
IGL02861:Klhdc1	APN	12	69,298,225 (GRCm39)	missense	possibly damaging	0.85
R0446:Klhdc1	UTSW	12	69,330,082 (GRCm39)	missense	probably benign
R0656:Klhdc1	UTSW	12	69,304,804 (GRCm39)	missense	probably benign
R1528:Klhdc1	UTSW	12	69,309,972 (GRCm39)	missense	probably benign	0.02
R3001:Klhdc1	UTSW	12	69,302,983 (GRCm39)	missense	possibly damaging	0.91
R3002:Klhdc1	UTSW	12	69,302,983 (GRCm39)	missense	possibly damaging	0.91
R4428:Klhdc1	UTSW	12	69,315,000 (GRCm39)	intron	probably benign
R4738:Klhdc1	UTSW	12	69,329,907 (GRCm39)	missense	probably benign	0.07
R5366:Klhdc1	UTSW	12	69,329,924 (GRCm39)	missense	probably damaging	0.99
R5619:Klhdc1	UTSW	12	69,304,919 (GRCm39)	splice site	probably null
R5662:Klhdc1	UTSW	12	69,329,939 (GRCm39)	missense	probably benign	0.07
R5911:Klhdc1	UTSW	12	69,303,025 (GRCm39)	missense	possibly damaging	0.80
R5995:Klhdc1	UTSW	12	69,297,548 (GRCm39)	missense	probably damaging	1.00
R6708:Klhdc1	UTSW	12	69,306,304 (GRCm39)	missense	possibly damaging	0.75
R6992:Klhdc1	UTSW	12	69,300,531 (GRCm39)	missense	probably damaging	1.00
R7224:Klhdc1	UTSW	12	69,309,923 (GRCm39)	missense	probably damaging	1.00
R7597:Klhdc1	UTSW	12	69,316,642 (GRCm39)	missense	probably damaging	1.00
R7833:Klhdc1	UTSW	12	69,329,942 (GRCm39)	missense	probably benign	0.12
R8826:Klhdc1	UTSW	12	69,305,392 (GRCm39)	missense	probably damaging	1.00
R8828:Klhdc1	UTSW	12	69,298,808 (GRCm39)	missense	probably damaging	1.00
R8880:Klhdc1	UTSW	12	69,298,817 (GRCm39)	missense	possibly damaging	0.94
R8939:Klhdc1	UTSW	12	69,300,537 (GRCm39)	missense	probably damaging	1.00
R9091:Klhdc1	UTSW	12	69,309,968 (GRCm39)	missense	probably damaging	1.00
R9114:Klhdc1	UTSW	12	69,288,783 (GRCm39)	missense	probably damaging	0.99
R9270:Klhdc1	UTSW	12	69,309,968 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGTCACAGTATGTTTTACACG -3'
(R):5'- ACAGTTGCTGGGAAACGTGG -3'

Sequencing Primer
(F):5'- ACACGTCATTTTGCTTCTGGAG -3'
(R):5'- CTGGGAAACGTGGAGTTGC -3'

Posted On

2016-06-06