Mutagenetix > Incidental Mutation

Incidental Mutation 'R7597:Klhdc1'

587799

Institutional Source

Beutler Lab

Gene Symbol

Klhdc1

Ensembl Gene

ENSMUSG00000051890

Gene Name

kelch domain containing 1

Synonyms

MMRRC Submission

045672-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69287950-69331406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69316642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 342 (S342P)

Ref Sequence

ENSEMBL: ENSMUSP00000068046 (fasta)

Gene Model

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

AlphaFold

Q80YG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000063445
AA Change: S342P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068046
Gene: ENSMUSG00000051890
AA Change: S342P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,644,661 (GRCm39)	L838P	probably damaging	Het
Adam34l	T	G	8: 44,078,281 (GRCm39)	N648H	probably damaging	Het
Adgrl4	T	A	3: 151,248,895 (GRCm39)	F728I	probably damaging	Het
Asap1	A	G	15: 64,184,304 (GRCm39)	V7A	probably benign	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
C4b	A	T	17: 34,958,649 (GRCm39)	S562T	probably benign	Het
Carmil2	A	G	8: 106,422,121 (GRCm39)	Y1130C	probably damaging	Het
Cit	A	T	5: 116,024,740 (GRCm39)	K328*	probably null	Het
Col18a1	T	C	10: 76,949,137 (GRCm39)	D125G	unknown	Het
Cxadr	T	C	16: 78,125,996 (GRCm39)	V122A	probably damaging	Het
Cyp2d22	G	A	15: 82,260,053 (GRCm39)	P44S	probably damaging	Het
Elapor1	A	G	3: 108,378,745 (GRCm39)	V351A	possibly damaging	Het
Gabrr1	A	G	4: 33,148,964 (GRCm39)	T74A	probably benign	Het
Gfm2	C	A	13: 97,309,086 (GRCm39)	A597E	probably benign	Het
H2-T22	T	C	17: 36,351,408 (GRCm39)	Y274C	probably damaging	Het
Has2	C	A	15: 56,531,817 (GRCm39)	W299C	probably damaging	Het
Hsd17b6	A	G	10: 127,827,227 (GRCm39)	S282P	probably benign	Het
Itga1	T	C	13: 115,110,676 (GRCm39)	I972V	probably benign	Het
Itih5	T	A	2: 10,254,187 (GRCm39)	Y813N	probably damaging	Het
Kctd16	A	G	18: 40,663,848 (GRCm39)	T326A	possibly damaging	Het
Kmt2a	T	C	9: 44,742,650 (GRCm39)	I1682M	unknown	Het
Lamc1	T	C	1: 153,116,200 (GRCm39)	K994E	possibly damaging	Het
Lig1	T	G	7: 13,030,270 (GRCm39)	S416A	probably benign	Het
Lims1	A	G	10: 58,248,263 (GRCm39)	E240G	probably damaging	Het
Lnpk	T	C	2: 74,399,316 (GRCm39)	M76V	probably benign	Het
Lrrtm4	T	A	6: 79,999,428 (GRCm39)	L280*	probably null	Het
Mfap3l	A	T	8: 61,124,315 (GRCm39)	I186F	possibly damaging	Het
Mta3	T	C	17: 84,083,011 (GRCm39)	F234L	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybpc2	C	T	7: 44,159,223 (GRCm39)	G609D	probably damaging	Het
Naga	A	T	15: 82,219,035 (GRCm39)	D237E	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nipsnap2	T	C	5: 129,816,637 (GRCm39)	L60P	probably damaging	Het
Or4f47	T	A	2: 111,972,925 (GRCm39)	F212I	probably benign	Het
Or8b1b	G	A	9: 38,375,802 (GRCm39)	G155D	probably benign	Het
Pclo	C	T	5: 14,727,601 (GRCm39)	T2153I	unknown	Het
Pclo	A	C	5: 14,908,869 (GRCm39)	K5059T	unknown	Het
Pdlim2	C	A	14: 70,403,645 (GRCm39)	A256S	possibly damaging	Het
Pira2	T	C	7: 3,845,460 (GRCm39)	D308G	probably damaging	Het
Proc	G	T	18: 32,256,689 (GRCm39)	A326E	probably damaging	Het
Rab40b	T	C	11: 121,248,709 (GRCm39)	D182G	probably benign	Het
Rai14	A	G	15: 10,574,937 (GRCm39)	S703P	possibly damaging	Het
Rdx	C	T	9: 51,972,196 (GRCm39)	P2L	possibly damaging	Het
Recql5	T	C	11: 115,819,207 (GRCm39)	K120E	probably benign	Het
Rev3l	C	T	10: 39,698,880 (GRCm39)	R1126C	probably damaging	Het
Slc2a6	G	T	2: 26,917,195 (GRCm39)	D70E	possibly damaging	Het
Slc6a17	A	T	3: 107,378,668 (GRCm39)	D671E	possibly damaging	Het
Slc7a8	G	A	14: 55,018,857 (GRCm39)		probably benign	Het
Srpk2	A	G	5: 23,753,517 (GRCm39)	Y79H	possibly damaging	Het
Traf3ip1	T	A	1: 91,439,167 (GRCm39)	I361K	probably damaging	Het
Trpm8	A	G	1: 88,255,918 (GRCm39)	Y191C	probably damaging	Het
Ubr3	T	C	2: 69,803,812 (GRCm39)	V1135A	possibly damaging	Het
Usp12	C	A	5: 146,691,179 (GRCm39)		probably null	Het
Vmn1r44	C	A	6: 89,870,818 (GRCm39)	P188Q	probably benign	Het
Xirp2	T	A	2: 67,356,099 (GRCm39)	V3620D	possibly damaging	Het
Zcchc14	A	T	8: 122,335,239 (GRCm39)	S294T	unknown	Het
Zfp800	T	C	6: 28,260,764 (GRCm39)	D5G	probably damaging	Het
Zfp87	C	T	13: 67,665,412 (GRCm39)	R350Q	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
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
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'- TGGGCATGCACACTTGTATG -3'
(R):5'- TCTCAGAAACAAATGTCCGATACAA -3'

Sequencing Primer
(F):5'- CATGCACACTTGTATGCACATG -3'
(R):5'- CCTCCATAGTGCTGGGATTATAGAC -3'

Posted On

2019-10-24