Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Klhdc1'

297913

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhdc1

Ensembl Gene

ENSMUSG00000051890

Gene Name

kelch domain containing 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

69287950-69331406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69300492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 144 (Y144C)

Ref Sequence

ENSEMBL: ENSMUSP00000134180 (fasta)

Gene Model

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

AlphaFold

Q80YG3

Predicted Effect

probably benign
Transcript: ENSMUST00000063445
AA Change: Y144C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: Y144C

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

probably benign
Transcript: ENSMUST00000173419
AA Change: Y144C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890
AA Change: Y144C

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,654,686 (GRCm39)	A545V	probably damaging	Het
Adam29	A	T	8: 56,325,902 (GRCm39)	L184*	probably null	Het
Ap1g1	C	T	8: 110,576,254 (GRCm39)	A432V	probably damaging	Het
Atrn	C	T	2: 130,814,202 (GRCm39)	T716I	probably damaging	Het
Bahd1	C	A	2: 118,747,526 (GRCm39)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,603,391 (GRCm39)	V256A	probably benign	Het
Camta2	A	G	11: 70,561,511 (GRCm39)	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,485,901 (GRCm39)	T38K	probably benign	Het
Cmtm3	T	C	8: 105,071,437 (GRCm39)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,236,492 (GRCm39)		probably benign	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,576,058 (GRCm39)	R650L	probably benign	Het
Fpr1	T	A	17: 18,096,915 (GRCm39)	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,753,112 (GRCm39)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,077,299 (GRCm39)	T958A	probably benign	Het
Gm3573	A	G	14: 42,009,452 (GRCm39)		probably null	Het
Hspbp1	T	C	7: 4,684,840 (GRCm39)		probably benign	Het
Jhy	G	T	9: 40,828,471 (GRCm39)	Y478*	probably null	Het
Kiz	A	G	2: 146,712,690 (GRCm39)	E118G	probably damaging	Het
Lamc3	A	T	2: 31,810,674 (GRCm39)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,522,269 (GRCm39)	E204G	probably benign	Het
Muc2	T	A	7: 141,305,594 (GRCm39)	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,741,113 (GRCm39)	S282G	probably damaging	Het
Or2j6	T	A	7: 139,980,575 (GRCm39)	Y128F	probably damaging	Het
Or5b111	T	C	19: 13,291,302 (GRCm39)	M116V	probably damaging	Het
Or5k8	C	A	16: 58,644,691 (GRCm39)	C127F	probably benign	Het
Orc2	A	T	1: 58,505,281 (GRCm39)		probably benign	Het
Pcdhb10	T	C	18: 37,545,743 (GRCm39)	I273T	probably benign	Het
Pdzph1	G	A	17: 59,280,386 (GRCm39)	T632I	probably benign	Het
Phf1	A	G	17: 27,154,600 (GRCm39)	Y225C	probably damaging	Het
Pramel17	T	A	4: 101,692,770 (GRCm39)	Y410F	probably damaging	Het
Prcp	T	C	7: 92,550,382 (GRCm39)	F60L	probably damaging	Het
Psg21	C	T	7: 18,388,961 (GRCm39)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 45,096,071 (GRCm39)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,556,748 (GRCm39)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,286,585 (GRCm39)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,204 (GRCm39)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,791,679 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,588,273 (GRCm39)	M726L	unknown	Het
Slc6a18	T	C	13: 73,818,114 (GRCm39)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,250,930 (GRCm39)		probably benign	Het
Tacr3	C	A	3: 134,535,232 (GRCm39)	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,443,640 (GRCm39)	K534*	probably null	Het
Timp3	T	A	10: 86,174,315 (GRCm39)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,765,628 (GRCm39)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,049,216 (GRCm39)		probably benign	Het
Tubal3	A	G	13: 3,980,554 (GRCm39)	R89G	probably benign	Het
Wdr35	A	T	12: 9,074,297 (GRCm39)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm39)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,261,953 (GRCm39)	H628L	unknown	Het
Zmynd8	A	G	2: 165,675,325 (GRCm39)	V301A	probably damaging	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
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
R5009:Klhdc1	UTSW	12	69,298,712 (GRCm39)	missense	possibly damaging	0.89
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

Posted On

2015-04-16