Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Klhdc1'

439727

Institutional Source

Beutler Lab

Gene Symbol

Klhdc1

Ensembl Gene

ENSMUSG00000051890

Gene Name

kelch domain containing 1

Synonyms

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69287950-69331406 bp(+) (GRCm39)

Type of Mutation

splice site (39 bp from exon)

DNA Base Change (assembly)

T to G at 69304919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068046 (fasta)

Gene Model

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

AlphaFold

Q80YG3

Predicted Effect

probably null
Transcript: ENSMUST00000063445

SMART Domains

Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890

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

SMART Domains

Protein: ENSMUSP00000134180
Gene: ENSMUSG00000051890

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	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
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
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
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'- TACGGCCGTTTCAAGTCTGTC -3'
(R):5'- TCAACATGGAACTTCCCGG -3'

Sequencing Primer
(F):5'- GGCCGTTTCAAGTCTGTCTTCTG -3'
(R):5'- ATGGAACTTCCCGGGGTCAG -3'

Posted On

2016-11-08