Mutagenetix > Incidental Mutation

Incidental Mutation 'R5177:Klhdc4'

399602

Institutional Source

Beutler Lab

Gene Symbol

Klhdc4

Ensembl Gene

ENSMUSG00000040263

Gene Name

kelch domain containing 4

Synonyms

G430025P05Rik

MMRRC Submission

042757-MU

Accession Numbers

Essential gene?

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

Stock #

R5177 (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 122540529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 115 (L115*)

Ref Sequence

ENSEMBL: ENSMUSP00000134474 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045884
AA Change: F141L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: F141L

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 damaging
Transcript: ENSMUST00000174192
AA Change: F84L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: F84L

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

probably null
Transcript: ENSMUST00000174665
AA Change: L115*

SMART Domains

Protein: ENSMUSP00000134474
Gene: ENSMUSG00000040263
AA Change: L115*

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

noncoding transcript
Transcript: ENSMUST00000174709

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174717
AA Change: F141L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: F141L

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,115,639 (GRCm39)	R575Q	probably damaging	Het
Arhgap22	T	G	14: 33,088,650 (GRCm39)	V377G	probably benign	Het
Asic4	T	C	1: 75,427,483 (GRCm39)	I3T	probably damaging	Het
Atp2b4	T	C	1: 133,656,506 (GRCm39)	T715A	probably benign	Het
Bltp3a	T	C	17: 28,103,992 (GRCm39)	L464P	possibly damaging	Het
Ccdc180	A	T	4: 45,917,508 (GRCm39)	H283L	probably damaging	Het
Cfap91	A	G	16: 38,152,683 (GRCm39)	S176P	probably benign	Het
Cfb	A	G	17: 35,078,002 (GRCm39)	V976A	probably damaging	Het
Cltc	T	C	11: 86,595,989 (GRCm39)	T1250A	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,180,730 (GRCm39)	D131E	probably damaging	Het
Dmxl1	T	C	18: 50,026,651 (GRCm39)	S1920P	probably damaging	Het
Dnajc13	G	A	9: 104,108,185 (GRCm39)	H197Y	probably benign	Het
Dpy19l1	C	T	9: 24,349,924 (GRCm39)		probably null	Het
Ears2	A	G	7: 121,643,683 (GRCm39)		probably benign	Het
Epgn	A	C	5: 91,176,136 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,302,601 (GRCm39)	T418A	probably benign	Het
F12	G	A	13: 55,567,981 (GRCm39)	P476S	probably benign	Het
Gal3st2c	C	T	1: 93,936,930 (GRCm39)	Q292*	probably null	Het
Galnt7	C	A	8: 58,037,061 (GRCm39)	Q109H	possibly damaging	Het
Gimap1	G	T	6: 48,720,032 (GRCm39)	G215W	probably damaging	Het
Gm28042	T	A	2: 119,872,082 (GRCm39)		probably null	Het
Gm5414	A	G	15: 101,534,252 (GRCm39)	I284T	possibly damaging	Het
Hddc3	A	G	7: 79,992,914 (GRCm39)	E10G	probably damaging	Het
Hmgxb3	T	C	18: 61,305,266 (GRCm39)	K31E	probably damaging	Het
Hspg2	A	C	4: 137,246,083 (GRCm39)	Y989S	probably damaging	Het
Kif12	G	A	4: 63,086,141 (GRCm39)	T402M	probably benign	Het
Lama2	C	T	10: 27,066,699 (GRCm39)	V1061M	possibly damaging	Het
Llgl1	C	T	11: 60,602,833 (GRCm39)	T836I	possibly damaging	Het
Map4k4	A	G	1: 40,025,922 (GRCm39)	D304G	probably damaging	Het
Matn2	A	G	15: 34,433,660 (GRCm39)	Q915R	possibly damaging	Het
Myo18a	A	G	11: 77,755,668 (GRCm39)		probably benign	Het
Myorg	C	A	4: 41,498,407 (GRCm39)	E408*	probably null	Het
Nbn	A	T	4: 15,965,132 (GRCm39)		probably null	Het
Nek8	G	A	11: 78,061,297 (GRCm39)	Q383*	probably null	Het
Nme7	T	G	1: 164,208,245 (GRCm39)	Y304*	probably null	Het
Nol8	A	T	13: 49,814,588 (GRCm39)	H214L	probably benign	Het
Nostrin	A	T	2: 69,006,098 (GRCm39)	I261F	possibly damaging	Het
Oprk1	T	G	1: 5,672,897 (GRCm39)	C345G	probably damaging	Het
Or13a18	A	G	7: 140,190,102 (GRCm39)	T8A	probably benign	Het
Or52j3	A	T	7: 102,836,710 (GRCm39)	I301L	probably benign	Het
Polrmt	T	C	10: 79,573,310 (GRCm39)	S998G	probably benign	Het
Ppp1r12c	T	A	7: 4,487,495 (GRCm39)	R393*	probably null	Het
Prpf3	T	A	3: 95,757,036 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,475,385 (GRCm39)	M563V	probably benign	Het
Rasa2	C	A	9: 96,426,844 (GRCm39)	E775*	probably null	Het
Rc3h1	G	T	1: 160,779,222 (GRCm39)	V552L	probably damaging	Het
Rhot1	A	T	11: 80,137,592 (GRCm39)	N365Y	possibly damaging	Het
Rimbp3	G	A	16: 17,027,781 (GRCm39)	V402M	possibly damaging	Het
Rusc2	A	T	4: 43,421,805 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,536,643 (GRCm39)	E141G	probably damaging	Het
Slc34a1	A	T	13: 55,548,975 (GRCm39)	I142F	probably damaging	Het
Socs6	A	C	18: 88,887,504 (GRCm39)	Y470*	probably null	Het
Sox12	A	T	2: 152,239,098 (GRCm39)	L174Q	unknown	Het
Srl	A	G	16: 4,314,267 (GRCm39)		probably null	Het
Tacc1	A	T	8: 25,691,237 (GRCm39)	V22E	probably damaging	Het
Thsd7a	A	T	6: 12,379,582 (GRCm39)	C947*	probably null	Het
Tlr12	A	C	4: 128,512,169 (GRCm39)	V27G	probably damaging	Het
Tmprss4	C	A	9: 45,085,260 (GRCm39)	V398L	probably benign	Het
Trip6	T	C	5: 137,310,434 (GRCm39)	D270G	probably damaging	Het
Uba5	T	G	9: 103,926,497 (GRCm39)	N355T	probably benign	Het
Ubr5	A	G	15: 38,006,761 (GRCm39)	Y1171H	probably benign	Het
Vmn2r57	A	G	7: 41,049,664 (GRCm39)	I695T	probably benign	Het
Vmn2r68	T	A	7: 84,871,199 (GRCm39)	I695L	probably damaging	Het
Vmn2r79	T	A	7: 86,651,177 (GRCm39)	M192K	probably damaging	Het
Vps16	G	T	2: 130,285,288 (GRCm39)	E782*	probably null	Het
Zfp783	A	G	6: 47,923,737 (GRCm39)		noncoding transcript	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
R4999:Klhdc4	UTSW	8	122,523,342 (GRCm39)	missense	probably benign	0.00
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'- ATTCAGGCCCAACACTGCTC -3'
(R):5'- TCTAGAAGCTTCCCCTTGGAG -3'

Sequencing Primer
(F):5'- TCTTCCCGGCACACAGGAC -3'
(R):5'- TTCCCCTTGGAGGCAAGAGAC -3'

Posted On

2016-07-06