Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Klhdc4'

190444

Institutional Source

Beutler Lab

Gene Symbol

Klhdc4

Ensembl Gene

ENSMUSG00000040263

Gene Name

kelch domain containing 4

Synonyms

G430025P05Rik

MMRRC Submission

039743-MU

Accession Numbers

Essential gene?

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

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122523052-122556308 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 122526226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 304 (Y304*)

Ref Sequence

ENSEMBL: ENSMUSP00000134361 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000045884
AA Change: Y335*

SMART Domains

Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: Y335*

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

noncoding transcript
Transcript: ENSMUST00000172507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172954

Predicted Effect

probably null
Transcript: ENSMUST00000174192
AA Change: Y278*

SMART Domains

Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: Y278*

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: 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

Predicted Effect

probably null
Transcript: ENSMUST00000174717
AA Change: Y304*

SMART Domains

Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: Y304*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,134 (GRCm39)	S249R	possibly damaging	Het
Acadvl	T	A	11: 69,901,181 (GRCm39)	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587 (GRCm39)	T264S	probably benign	Het
Acrv1	C	T	9: 36,605,551 (GRCm39)	Q33*	probably null	Het
Actrt3	T	A	3: 30,653,901 (GRCm39)	N33I	probably damaging	Het
Alyref2	T	C	1: 171,331,168 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,726,709 (GRCm39)	E3712*	probably null	Het
Ano7	C	A	1: 93,313,346 (GRCm39)	H161Q	probably benign	Het
Arhgap10	C	A	8: 78,085,216 (GRCm39)	E451*	probably null	Het
Arhgap29	T	A	3: 121,801,729 (GRCm39)	Y748N	probably damaging	Het
Arhgap45	C	T	10: 79,853,932 (GRCm39)	Q149*	probably null	Het
Asap2	C	T	12: 21,274,393 (GRCm39)	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,735,372 (GRCm39)	I480T	probably benign	Het
BC034090	T	C	1: 155,101,610 (GRCm39)	D218G	possibly damaging	Het
Brdt	A	T	5: 107,491,450 (GRCm39)	D74V	probably damaging	Het
C4b	A	G	17: 34,962,638 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,888,660 (GRCm39)	K233*	probably null	Het
Catip	T	G	1: 74,401,929 (GRCm39)	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,648,647 (GRCm39)	G247R	probably damaging	Het
Cep97	T	A	16: 55,735,385 (GRCm39)	D471V	probably damaging	Het
Col17a1	A	T	19: 47,659,370 (GRCm39)	L403Q	probably damaging	Het
Crbn	A	G	6: 106,767,906 (GRCm39)	S194P	possibly damaging	Het
Degs1l	A	G	1: 180,878,884 (GRCm39)	M1V	probably null	Het
Dennd10	A	G	19: 60,806,021 (GRCm39)	Y102C	probably damaging	Het
Dhx58	T	A	11: 100,594,400 (GRCm39)	H97L	probably benign	Het
Dnah8	T	C	17: 31,073,914 (GRCm39)	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,404,092 (GRCm39)		probably null	Het
Entpd1	A	T	19: 40,714,680 (GRCm39)	Q263L	probably benign	Het
Entrep1	A	T	19: 23,957,059 (GRCm39)	I317N	probably damaging	Het
Esyt3	T	C	9: 99,218,244 (GRCm39)	I130M	probably benign	Het
Etv1	T	C	12: 38,902,261 (GRCm39)	F264S	probably benign	Het
Fat1	T	C	8: 45,463,519 (GRCm39)	S1354P	probably benign	Het
Fat4	C	A	3: 39,005,304 (GRCm39)	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,010,586 (GRCm39)	V351I	probably damaging	Het
Fmo3	A	G	1: 162,795,356 (GRCm39)	F160L	possibly damaging	Het
Fyb2	T	A	4: 104,861,113 (GRCm39)	D592E	probably damaging	Het
Gjb4	T	C	4: 127,245,663 (GRCm39)	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,673,566 (GRCm39)	G52*	probably null	Het
Gm6401	G	T	14: 41,788,840 (GRCm39)	N76K	probably benign	Het
Gm6871	A	G	7: 41,195,901 (GRCm39)	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,240,081 (GRCm39)	V301G	probably benign	Het
H2bw2	A	C	X: 135,828,216 (GRCm39)	D35A	unknown	Het
Hfm1	A	G	5: 107,028,380 (GRCm39)	F817L	probably damaging	Het
Hfm1	T	C	5: 107,043,869 (GRCm39)	E589G	probably damaging	Het
Hivep2	A	T	10: 14,005,249 (GRCm39)	K616*	probably null	Het
Hmcn1	A	T	1: 150,551,735 (GRCm39)	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,082,565 (GRCm39)	A339E	probably damaging	Het
Insyn2b	T	A	11: 34,354,263 (GRCm39)		probably null	Het
Irx4	T	C	13: 73,415,757 (GRCm39)	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511 (GRCm39)	S758P	probably damaging	Het
Lama1	A	G	17: 68,060,786 (GRCm39)	I705V	probably benign	Het
Mbd5	A	G	2: 49,147,044 (GRCm39)	N418S	probably benign	Het
Mmp21	C	T	7: 133,279,014 (GRCm39)	V279I	probably damaging	Het
Morc4	A	C	X: 138,755,279 (GRCm39)	C272W	probably damaging	Het
Mrm1	A	T	11: 84,709,518 (GRCm39)	C180S	probably damaging	Het
Ncor1	T	C	11: 62,313,831 (GRCm39)	D103G	probably damaging	Het
Ndrg4	A	G	8: 96,437,314 (GRCm39)	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,035,522 (GRCm39)	V246A	possibly damaging	Het
Noa1	T	C	5: 77,457,572 (GRCm39)	E111G	possibly damaging	Het
Nod1	C	A	6: 54,921,044 (GRCm39)	V425F	probably damaging	Het
Nos1	A	T	5: 118,033,984 (GRCm39)	I369F	probably damaging	Het
Nsun5	C	T	5: 135,400,170 (GRCm39)	H98Y	probably damaging	Het
Optn	G	A	2: 5,057,941 (GRCm39)	T76I	possibly damaging	Het
Or14c39	G	A	7: 86,344,318 (GRCm39)	R218H	probably benign	Het
Or4k15c	C	G	14: 50,321,827 (GRCm39)	V104L	probably benign	Het
Or5k1b	A	G	16: 58,581,504 (GRCm39)	F12L	probably benign	Het
Or8d1b	A	G	9: 38,887,202 (GRCm39)	I77V	probably damaging	Het
Or8g28	T	C	9: 39,169,867 (GRCm39)	I37V	probably benign	Het
Or9g19	C	T	2: 85,600,199 (GRCm39)	T18I	probably benign	Het
Oscar	C	T	7: 3,614,855 (GRCm39)	W22*	probably null	Het
Palmd	T	A	3: 116,717,306 (GRCm39)	Y397F	probably damaging	Het
Plk1	A	G	7: 121,768,121 (GRCm39)	D447G	probably damaging	Het
Plscr5	T	A	9: 92,087,581 (GRCm39)	N183K	probably damaging	Het
Polk	T	G	13: 96,625,712 (GRCm39)	D364A	probably damaging	Het
Polr3d	T	C	14: 70,680,450 (GRCm39)	T36A	probably benign	Het
Ppp1r10	A	T	17: 36,237,428 (GRCm39)	R199S	probably damaging	Het
Prkcz	C	T	4: 155,346,969 (GRCm39)	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,102,234 (GRCm39)	L769P	probably damaging	Het
Psg26	A	G	7: 18,213,966 (GRCm39)	V232A	probably damaging	Het
Pth2r	T	C	1: 65,375,997 (GRCm39)	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,566,494 (GRCm39)		probably benign	Het
Reps1	A	T	10: 17,994,698 (GRCm39)	D514V	possibly damaging	Het
Riok3	G	T	18: 12,276,018 (GRCm39)	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,353 (GRCm39)	Q569R	probably damaging	Het
Rorb	G	A	19: 18,937,865 (GRCm39)	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,340 (GRCm39)	M70K	probably damaging	Het
Rsf1	A	T	7: 97,311,556 (GRCm39)	E762V	possibly damaging	Het
S100a2	G	A	3: 90,498,699 (GRCm39)	V67I	probably benign	Het
Skp1	T	A	11: 52,133,442 (GRCm39)	D42E	probably benign	Het
Slc22a4	A	T	11: 53,918,801 (GRCm39)	M1K	probably null	Het
Slc2a9	T	A	5: 38,539,387 (GRCm39)	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,665,075 (GRCm39)	T475A	probably benign	Het
Slc8b1	A	G	5: 120,657,717 (GRCm39)	N60S	probably damaging	Het
Slx4	A	C	16: 3,817,022 (GRCm39)	D66E	probably benign	Het
Smg8	A	T	11: 86,977,113 (GRCm39)	I156N	probably damaging	Het
Snx25	A	T	8: 46,569,244 (GRCm39)	C218S	possibly damaging	Het
Sulf2	T	C	2: 165,920,992 (GRCm39)	I784V	probably benign	Het
Tatdn2	G	T	6: 113,674,888 (GRCm39)	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,445,918 (GRCm39)	D91G	possibly damaging	Het
Tifab	C	A	13: 56,324,433 (GRCm39)	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,200,304 (GRCm39)	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,334,343 (GRCm39)	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,369,667 (GRCm39)	D367E	probably damaging	Het
Txlnb	A	G	10: 17,719,203 (GRCm39)	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,934,895 (GRCm39)		probably null	Het
Vmn2r124	A	T	17: 18,282,187 (GRCm39)		probably benign	Het
Vmn2r2	T	C	3: 64,024,820 (GRCm39)	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Vps13c	T	A	9: 67,818,811 (GRCm39)	S1077R	probably benign	Het
Vsig10	C	T	5: 117,489,719 (GRCm39)	A495V	probably benign	Het
Vwa3a	A	T	7: 120,403,254 (GRCm39)		probably null	Het
Zfhx2	C	A	14: 55,303,455 (GRCm39)	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,611,389 (GRCm39)	D601V	probably damaging	Het
Zfp62	T	C	11: 49,108,510 (GRCm39)	I867T	probably benign	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
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
R4999:Klhdc4	UTSW	8	122,523,342 (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'- CTGACATCAAGAAGGAACGGGCTAC -3'
(R):5'- GACGCTTGAAATTATGCTCCCGC -3'

Sequencing Primer
(F):5'- GCTACAAAGCCAAAAGGGTC -3'
(R):5'- CTTTCCTTACAGGCAAATGGG -3'

Posted On

2014-05-14