Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Klhdc4'

389744

Institutional Source

Beutler Lab

Gene Symbol

Klhdc4

Ensembl Gene

ENSMUSG00000040263

Gene Name

kelch domain containing 4

Synonyms

G430025P05Rik

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122523052-122556308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122523342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 510 (M510L)

Ref Sequence

ENSEMBL: ENSMUSP00000134487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045884] [ENSMUST00000127664] [ENSMUST00000167439] [ENSMUST00000174192] [ENSMUST00000174717] [ENSMUST00000174665]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045884
AA Change: M567L

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

SMART Domains

Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: M567L

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
Pfam:Kelch_4	63	118	8.3e-11	PFAM
Pfam:Kelch_3	75	125	1.7e-9	PFAM
Pfam:Kelch_6	118	174	2.4e-9	PFAM
Pfam:Kelch_4	118	175	3e-8	PFAM
Pfam:Kelch_3	131	185	2e-8	PFAM
Pfam:Kelch_5	173	216	7.5e-9	PFAM
Pfam:Kelch_3	186	239	2.1e-6	PFAM
Pfam:Kelch_1	295	345	4.6e-6	PFAM
Pfam:Kelch_2	295	349	2.1e-7	PFAM
low complexity region	489	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167439

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318

Domain	Start	End	E-Value	Type
MORN	13	34	8.01e-1	SMART
MORN	37	57	6.13e1	SMART
MORN	59	80	2.99e-1	SMART
Pfam:MORN	83	104	5.8e-2	PFAM
MORN	105	126	8.1e-5	SMART
MORN	128	149	2.74e-2	SMART
low complexity region	181	192	N/A	INTRINSIC
low complexity region	212	244	N/A	INTRINSIC
MORN	286	307	2.78e-3	SMART
MORN	309	330	1.03e-6	SMART
low complexity region	360	381	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
transmembrane domain	721	743	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172954

Predicted Effect

probably benign
Transcript: ENSMUST00000174192
AA Change: M510L

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

SMART Domains

Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: M510L

Domain	Start	End	E-Value	Type
Pfam:Kelch_3	32	70	1.5e-6	PFAM
Pfam:Kelch_6	61	117	1.9e-8	PFAM
Pfam:Kelch_4	61	118	6.9e-8	PFAM
Pfam:Kelch_3	74	128	4.6e-8	PFAM
Pfam:Kelch_5	116	159	1.4e-7	PFAM
Pfam:Kelch_4	119	172	2.2e-6	PFAM
Pfam:Kelch_3	129	182	7e-7	PFAM
Pfam:Kelch_2	238	292	1.8e-7	PFAM
low complexity region	432	463	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174206

Predicted Effect

probably benign
Transcript: ENSMUST00000174717
AA Change: M536L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: M536L

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
Pfam:Kelch_4	63	117	1.4e-8	PFAM
Pfam:Kelch_3	75	127	9.6e-11	PFAM
Pfam:Kelch_4	118	170	2.3e-7	PFAM
Pfam:Kelch_6	118	174	9.3e-9	PFAM
low complexity region	191	202	N/A	INTRINSIC
Pfam:Kelch_2	264	318	2e-7	PFAM
low complexity region	458	489	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174709

Predicted Effect

probably benign
Transcript: ENSMUST00000174665

SMART Domains

Protein: ENSMUSP00000134474
Gene: ENSMUSG00000040263

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	57	67	N/A	INTRINSIC
low complexity region	104	114	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	Het

Other mutations in Klhdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Klhdc4	APN	8	122,548,582 (GRCm39)	nonsense	probably null
IGL01678:Klhdc4	APN	8	122,523,677 (GRCm39)	missense	possibly damaging	0.73
kilimanjaro	UTSW	8	122,540,529 (GRCm39)	nonsense	probably null
R0577:Klhdc4	UTSW	8	122,548,090 (GRCm39)	missense	probably damaging	0.99
R0881:Klhdc4	UTSW	8	122,526,226 (GRCm39)	nonsense	probably null
R1710:Klhdc4	UTSW	8	122,526,226 (GRCm39)	nonsense	probably null
R2993:Klhdc4	UTSW	8	122,533,320 (GRCm39)	nonsense	probably null
R3028:Klhdc4	UTSW	8	122,526,288 (GRCm39)	missense	probably damaging	1.00
R3109:Klhdc4	UTSW	8	122,548,073 (GRCm39)	missense	probably damaging	1.00
R3711:Klhdc4	UTSW	8	122,524,794 (GRCm39)	missense	probably benign
R4132:Klhdc4	UTSW	8	122,524,804 (GRCm39)	missense	possibly damaging	0.79
R4601:Klhdc4	UTSW	8	122,526,266 (GRCm39)	missense	probably damaging	1.00
R4644:Klhdc4	UTSW	8	122,548,739 (GRCm39)	intron	probably benign
R4758:Klhdc4	UTSW	8	122,524,783 (GRCm39)	missense	probably benign	0.00
R5177:Klhdc4	UTSW	8	122,540,529 (GRCm39)	nonsense	probably null
R5364:Klhdc4	UTSW	8	122,533,375 (GRCm39)	intron	probably benign
R5475:Klhdc4	UTSW	8	122,526,311 (GRCm39)	missense	possibly damaging	0.67
R5705:Klhdc4	UTSW	8	122,531,732 (GRCm39)	missense	probably benign	0.01
R6248:Klhdc4	UTSW	8	122,540,507 (GRCm39)	missense	probably damaging	1.00
R6326:Klhdc4	UTSW	8	122,531,793 (GRCm39)	missense	probably damaging	1.00
R6626:Klhdc4	UTSW	8	122,546,901 (GRCm39)	missense	probably benign	0.43
R7274:Klhdc4	UTSW	8	122,526,397 (GRCm39)	critical splice acceptor site	probably null
R7716:Klhdc4	UTSW	8	122,556,159 (GRCm39)	missense	unknown
R8430:Klhdc4	UTSW	8	122,526,252 (GRCm39)	missense	possibly damaging	0.82
R8841:Klhdc4	UTSW	8	122,523,380 (GRCm39)	missense	possibly damaging	0.84
R9089:Klhdc4	UTSW	8	122,524,684 (GRCm39)	missense	probably benign	0.06
R9443:Klhdc4	UTSW	8	122,523,765 (GRCm39)	missense	possibly damaging	0.68
R9461:Klhdc4	UTSW	8	122,526,224 (GRCm39)	missense	probably damaging	1.00
R9612:Klhdc4	UTSW	8	122,527,917 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACTGTGAAGTCAGGCTAGCC -3'
(R):5'- GTTGCCATTCAGTGTACCCC -3'

Sequencing Primer
(F):5'- TAGCCCCCGTCAGACTGTG -3'
(R):5'- TGACCTGCCTGACTGAGCAAC -3'

Posted On

2016-06-06