Mutagenetix > Incidental Mutation

Incidental Mutation 'R7833:Klhdc1'

605798

Institutional Source

Beutler Lab

Gene Symbol

Klhdc1

Ensembl Gene

ENSMUSG00000051890

Gene Name

kelch domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69241176-69284632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69283168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 357 (I357N)

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: I357N

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: I357N

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,312,278	S84G	probably benign	Het
Acin1	A	T	14: 54,664,602	S578T	possibly damaging	Het
Acot5	A	G	12: 84,075,827	Q395R	probably damaging	Het
Adamts15	T	A	9: 30,922,105	T45S	probably benign	Het
Agbl2	A	G	2: 90,815,433	K837E	probably benign	Het
Atf2	T	C	2: 73,853,885	T19A	possibly damaging	Het
Atp6v0a2	T	C	5: 124,645,031	V238A	probably damaging	Het
Atp9a	A	T	2: 168,674,857	V430E	probably benign	Het
Cachd1	G	A	4: 100,974,815	V725I	probably benign	Het
Ccnb1	G	A	13: 100,781,351	T247M	probably damaging	Het
Cd40	A	T	2: 165,066,511	D169V	probably benign	Het
Cdc25c	G	A	18: 34,747,243	T146I	probably benign	Het
Ceacam3	C	A	7: 17,159,853	Q430K		Het
Cerkl	G	A	2: 79,341,380	T378I	probably benign	Het
Cpn2	G	T	16: 30,260,345	N179K	probably damaging	Het
Duox1	A	G	2: 122,324,388	D418G	probably damaging	Het
Eps8l1	C	A	7: 4,468,867	P11T	possibly damaging	Het
Erc1	C	T	6: 119,824,486	W190*	probably null	Het
Exosc7	A	T	9: 123,130,919	E195V	probably benign	Het
F2rl2	A	G	13: 95,700,918	N157S	probably damaging	Het
Fgd2	T	C	17: 29,367,395	L270P	possibly damaging	Het
Fitm2	A	T	2: 163,470,099	W65R	probably damaging	Het
Gabbr1	T	G	17: 37,056,969	I437S	possibly damaging	Het
Galntl6	A	T	8: 57,857,537	S377T	probably benign	Het
Gm17727	T	A	9: 35,777,110	S60C	probably damaging	Het
Gm21936	G	A	12: 87,795,552	R14K	unknown	Het
Gm281	A	T	14: 13,896,968		probably null	Het
Gm340	A	G	19: 41,584,585	D593G	probably benign	Het
Gml2	T	A	15: 74,821,368	C73*	probably null	Het
Htr6	G	T	4: 139,061,831	F304L	probably damaging	Het
Hydin	G	A	8: 110,589,460	G4328D	probably damaging	Het
Kcnj14	T	C	7: 45,817,893	D343G	probably damaging	Het
Man2a1	A	G	17: 64,666,751	T341A	probably damaging	Het
Mrm1	A	C	11: 84,818,643	V196G	probably damaging	Het
Mybbp1a	A	G	11: 72,442,901		probably null	Het
Myo19	G	A	11: 84,909,267	C826Y	probably benign	Het
Nbea	A	G	3: 56,002,797	W1326R	probably damaging	Het
Notch1	A	G	2: 26,459,533	*2532Q	probably null	Het
Npas2	A	G	1: 39,326,147	Y287C	probably damaging	Het
Olfr1016	T	A	2: 85,799,949	D107V	probably benign	Het
Olfr401	G	A	11: 74,121,837	D183N	probably damaging	Het
Pcdhga7	C	A	18: 37,716,024	D361E	possibly damaging	Het
Pde10a	T	A	17: 8,961,920	Y447N	possibly damaging	Het
Piwil2	T	A	14: 70,395,441	I561F	probably benign	Het
Pml	C	A	9: 58,234,685	R288L	probably benign	Het
Ppp4r4	A	G	12: 103,598,148	T591A	probably benign	Het
Ptprb	A	G	10: 116,315,251	T273A	probably benign	Het
Ptpro	T	A	6: 137,416,863	L843*	probably null	Het
Qrfpr	T	C	3: 36,189,602	I117V	probably benign	Het
Qrich2	T	C	11: 116,455,765	D1411G	probably benign	Het
Rad51ap2	T	C	12: 11,456,655	S193P	probably benign	Het
Raver1	T	C	9: 21,081,314	E273G	probably benign	Het
Rubcn	C	A	16: 32,868,274		probably benign	Het
S1pr4	C	T	10: 81,498,492	V383I	possibly damaging	Het
Scn7a	T	C	2: 66,676,150	D1465G	probably damaging	Het
Smarca4	T	A	9: 21,647,359	D607E	possibly damaging	Het
Srbd1	T	A	17: 85,985,454	I896L	possibly damaging	Het
Sulf2	G	T	2: 166,079,536	N722K	possibly damaging	Het
Surf1	A	G	2: 26,916,268	Y22H	probably benign	Het
Syngr2	A	G	11: 117,813,156	T150A	probably benign	Het
Szt2	G	T	4: 118,366,219	H3056N	unknown	Het
Tmf1	A	T	6: 97,161,411	S849T	probably benign	Het
Tns1	T	A	1: 74,091,331		probably benign	Het
Trio	G	T	15: 27,774,086	P1764Q	probably damaging	Het
Trpc3	A	T	3: 36,640,672	V711D	probably damaging	Het
Ttll3	G	T	6: 113,409,337	K710N	probably damaging	Het
Unc13c	A	G	9: 73,481,109	S2132P	possibly damaging	Het
Utp20	G	A	10: 88,801,136	P738S	possibly damaging	Het
Vmn2r76	C	T	7: 86,228,684	V502I	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	probably benign	Het
Wdr64	T	G	1: 175,763,945	F390V	probably damaging	Het
Ybx3	T	G	6: 131,367,863	T341P	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,747	Q126K	possibly damaging	Het
Zfp777	G	A	6: 48,025,138	P673S	probably damaging	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
R0446:Klhdc1	UTSW	12	69283308	missense	probably benign
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
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'- TGCTTAACTTCGGTGCTCTGAG -3'
(R):5'- ATCCAGCCTTCACTGCAGTG -3'

Sequencing Primer
(F):5'- AGTTTTAGTGCTCACCTGGC -3'
(R):5'- TCTGATGCAAGCACGCAG -3'

Posted On

2019-12-20