Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Klhdc1'

39398

Institutional Source

Beutler Lab

Gene Symbol

Klhdc1

Ensembl Gene

ENSMUSG00000051890

Gene Name

kelch domain containing 1

Synonyms

MMRRC Submission

038647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0446 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

69241176-69284632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69283308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 404 (S404R)

Ref Sequence

ENSEMBL: ENSMUSP00000068046 (fasta)

Gene Model

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

AlphaFold

Q80YG3

Predicted Effect

probably benign
Transcript: ENSMUST00000063445
AA Change: S404R

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

SMART Domains

Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: S404R

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	G	A	2: 91,304,764	T20I	possibly damaging	Het
4930435E12Rik	G	A	16: 38,828,702	T15I	probably benign	Het
4933434E20Rik	A	G	3: 90,064,459	T42A	probably benign	Het
Actr3b	T	A	5: 25,831,732	I181K	probably damaging	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
B3galt4	T	C	17: 33,951,018	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609	T349I	probably benign	Het
Brip1	A	T	11: 86,157,601	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,978,264	T61A	probably damaging	Het
Cmya5	T	A	13: 93,093,656	R1641S	probably benign	Het
Cog7	T	C	7: 121,937,072	D515G	probably benign	Het
Cpsf4	T	A	5: 145,177,244	L171Q	probably damaging	Het
Cuzd1	A	T	7: 131,316,280		probably null	Het
Dapk1	T	A	13: 60,725,287		probably null	Het
Diaph1	A	G	18: 37,853,590	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,463,916	K211*	probably null	Het
Fam160b1	G	A	19: 57,381,407	D461N	probably benign	Het
Fam170a	T	A	18: 50,280,632	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,743,720	S119P	probably benign	Het
Fryl	G	A	5: 73,097,417	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,445,521		noncoding transcript	Het
Gm14124	A	G	2: 150,268,073	T228A	possibly damaging	Het
Gss	T	C	2: 155,567,745	E257G	probably benign	Het
Kmt2e	T	A	5: 23,497,534		probably null	Het
Krt20	G	A	11: 99,437,776	Q108*	probably null	Het
Lmnb1	T	A	18: 56,743,259	S480T	probably benign	Het
Lyst	T	A	13: 13,638,048	M1015K	probably benign	Het
Mdm1	T	G	10: 118,152,056	S290A	probably benign	Het
Mkln1	T	A	6: 31,449,504	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,643,236	V189A	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neurod6	C	T	6: 55,679,629	E8K	probably benign	Het
Nlrp12	T	C	7: 3,234,029	I747V	probably benign	Het
Notch4	C	T	17: 34,565,363	R43W	possibly damaging	Het
Obscn	A	T	11: 58,995,412		probably benign	Het
Olfr1153	T	C	2: 87,896,855	Y219H	possibly damaging	Het
Olfr1346	T	C	7: 6,475,025	V305A	probably benign	Het
Olfr480	A	T	7: 108,066,725	Y24*	probably null	Het
Olfr522	A	T	7: 140,162,471	S160T	probably damaging	Het
Olfr920	G	T	9: 38,755,818	L43F	probably damaging	Het
Olfr958	A	T	9: 39,550,451	I140N	probably damaging	Het
Orc5	C	T	5: 22,546,457	V85I	probably benign	Het
Pccb	T	C	9: 100,982,797	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,024	V1675E	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pltp	A	T	2: 164,854,400	N97K	probably damaging	Het
Polr1a	T	C	6: 71,950,664		probably null	Het
Prss42	G	A	9: 110,799,273	V162I	possibly damaging	Het
Rbfox2	A	T	15: 77,099,255	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,214,195	I83K	probably damaging	Het
S1pr4	A	T	10: 81,498,989	I217N	probably damaging	Het
Slc23a2	T	C	2: 132,078,433	K184R	probably benign	Het
Slc6a19	T	C	13: 73,691,695	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,192,898	H358L	possibly damaging	Het
Tigit	G	T	16: 43,662,271	N33K	probably damaging	Het
Tmem25	T	C	9: 44,796,581	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,582,626	T372M	probably damaging	Het
Ubr2	A	T	17: 46,983,298	M303K	probably damaging	Het
Usp34	A	G	11: 23,467,207	E2952G	probably damaging	Het
Zan	T	A	5: 137,391,658	I4851F	unknown	Het
Zfand4	C	T	6: 116,288,054	T160I	probably benign	Het

Other mutations in Klhdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Klhdc1	APN	12	69242008	missense	possibly damaging	0.92
IGL01432:Klhdc1	APN	12	69251977	missense	probably damaging	0.97
IGL02086:Klhdc1	APN	12	69283184	missense	probably benign	0.18
IGL02212:Klhdc1	APN	12	69250766	missense	probably damaging	1.00
IGL02548:Klhdc1	APN	12	69253718	missense	probably benign	0.00
IGL02861:Klhdc1	APN	12	69251451	missense	possibly damaging	0.85
R0656:Klhdc1	UTSW	12	69258030	missense	probably benign
R1528:Klhdc1	UTSW	12	69263198	missense	probably benign	0.02
R3001:Klhdc1	UTSW	12	69256209	missense	possibly damaging	0.91
R3002:Klhdc1	UTSW	12	69256209	missense	possibly damaging	0.91
R4428:Klhdc1	UTSW	12	69268226	intron	probably benign
R4738:Klhdc1	UTSW	12	69283133	missense	probably benign	0.07
R5009:Klhdc1	UTSW	12	69251938	missense	possibly damaging	0.89
R5366:Klhdc1	UTSW	12	69283150	missense	probably damaging	0.99
R5619:Klhdc1	UTSW	12	69258145	splice site	probably null
R5662:Klhdc1	UTSW	12	69283165	missense	probably benign	0.07
R5911:Klhdc1	UTSW	12	69256251	missense	possibly damaging	0.80
R5995:Klhdc1	UTSW	12	69250774	missense	probably damaging	1.00
R6708:Klhdc1	UTSW	12	69259530	missense	possibly damaging	0.75
R6992:Klhdc1	UTSW	12	69253757	missense	probably damaging	1.00
R7224:Klhdc1	UTSW	12	69263149	missense	probably damaging	1.00
R7597:Klhdc1	UTSW	12	69269868	missense	probably damaging	1.00
R7833:Klhdc1	UTSW	12	69283168	missense	probably benign	0.12
R8826:Klhdc1	UTSW	12	69258618	missense	probably damaging	1.00
R8828:Klhdc1	UTSW	12	69252034	missense	probably damaging	1.00
R8880:Klhdc1	UTSW	12	69252043	missense	possibly damaging	0.94
R8939:Klhdc1	UTSW	12	69253763	missense	probably damaging	1.00
R9091:Klhdc1	UTSW	12	69263194	missense	probably damaging	1.00
R9114:Klhdc1	UTSW	12	69242009	missense	probably damaging	0.99
R9270:Klhdc1	UTSW	12	69263194	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGTTCAGGCGCTAACCATTC -3'
(R):5'- CCTGCTCAACAATGGGGACGAAAAG -3'

Sequencing Primer
(F):5'- AGGCGCTAACCATTCTCTATG -3'
(R):5'- CTGTACTTATTTCCAGGACGAACAC -3'

Posted On

2013-05-23