Mutagenetix > Incidental Mutations

Incidental Mutation 'R4758:Klhdc4'

358331

Institutional Source

Beutler Lab

Gene Symbol

Klhdc4

Ensembl Gene

ENSMUSG00000040263

Gene Name

kelch domain containing 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121796313-121829569 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121798044 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 382 (P382S)

Ref Sequence

ENSEMBL: ENSMUSP00000134361 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045884
AA Change: P413S

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

SMART Domains

Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: P413S

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: P356S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: P356S

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

noncoding transcript
Transcript: ENSMUST00000174709

Predicted Effect

probably benign
Transcript: ENSMUST00000174717
AA Change: P382S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: P382S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,073,605	Y119N	probably damaging	Het
Actn2	T	A	13: 12,288,586	K443*	probably null	Het
Adgrb2	A	G	4: 130,009,350	N581S	probably damaging	Het
Alb	A	T	5: 90,468,593	H319L	probably benign	Het
Aox2	A	G	1: 58,332,582	I802V	probably benign	Het
Arhgap45	G	A	10: 80,030,293	G995E	probably benign	Het
BC005561	A	C	5: 104,520,399	E929A	possibly damaging	Het
Capn12	A	C	7: 28,892,723	T689P	possibly damaging	Het
Cars	T	C	7: 143,571,567	S312G	probably benign	Het
Cast	T	A	13: 74,739,880	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,833,734	E72K	possibly damaging	Het
Cd300lg	G	T	11: 102,053,591		probably null	Het
Cep41	A	G	6: 30,671,369		probably benign	Het
Chrna3	A	G	9: 55,022,276	Y93H	probably damaging	Het
Cic	A	G	7: 25,292,211	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,407,849	V526A	probably benign	Het
Clec4a1	G	T	6: 122,933,866	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,160	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527	C4F	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Decr2	C	A	17: 26,088,940	E46D	probably damaging	Het
Dlg1	G	A	16: 31,791,752	V284I	possibly damaging	Het
Dnah3	T	C	7: 120,079,406	E360G	probably benign	Het
Dnajc1	A	T	2: 18,308,946	Y121*	probably null	Het
Dnajc13	A	G	9: 104,172,574	F1783L	probably damaging	Het
Eps8l2	T	A	7: 141,360,373	D505E	probably damaging	Het
Eral1	G	A	11: 78,075,599	T251I	probably benign	Het
Eya3	T	C	4: 132,694,885		probably null	Het
Fam120a	G	A	13: 48,880,857	T1093I	probably benign	Het
Fbn2	C	T	18: 58,026,386	A2424T	probably benign	Het
Git2	G	A	5: 114,730,351	T256M	probably damaging	Het
Gm884	A	G	11: 103,614,464	V2226A	possibly damaging	Het
Gm9805	A	T	17: 22,689,871	Y34F	probably benign	Het
Itgb7	T	G	15: 102,216,207	T792P	probably benign	Het
Jakmip1	T	A	5: 37,128,622	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,518,897	Y677H	probably damaging	Het
Knl1	TCC	TC	2: 119,071,732		probably null	Het
Lamb3	T	A	1: 193,339,961	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,101,170	M1L	possibly damaging	Het
Magi3	T	A	3: 104,015,321	D1360V	probably benign	Het
Mier2	C	A	10: 79,550,348	C23F	probably damaging	Het
Myo1h	C	T	5: 114,349,582	R616C	probably damaging	Het
Nars2	A	G	7: 96,973,528	D187G	probably damaging	Het
Nbea	T	C	3: 56,005,403	M988V	probably benign	Het
Nlrc5	C	A	8: 94,512,328	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,320,618	F177L	probably benign	Het
Oas1a	A	G	5: 120,907,338	F47L	probably damaging	Het
Oas1f	A	G	5: 120,847,480	E30G	probably damaging	Het
Obscn	A	T	11: 59,003,363	M6689K	unknown	Het
Obscn	A	T	11: 59,135,917	D153E	probably damaging	Het
Olfr605	A	C	7: 103,442,869	C85G	probably damaging	Het
Osmr	A	T	15: 6,852,555	I36K	probably benign	Het
Pcf11	A	T	7: 92,661,175	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,511,499	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,437,978	C242S	probably benign	Het
Pikfyve	T	A	1: 65,272,515	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,642,005	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,122,878	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Prdm10	A	T	9: 31,362,412	T985S	probably benign	Het
Proc	T	A	18: 32,123,810	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,384,248	T365M	probably damaging	Het
Rasa1	A	T	13: 85,234,448	D446E	probably benign	Het
Ribc2	T	A	15: 85,141,666	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907	D385G	probably damaging	Het
Sdk2	A	G	11: 113,827,054	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,854,362		probably null	Het
Slc43a3	A	G	2: 84,944,525	N149S	probably damaging	Het
Spata5	T	A	3: 37,433,236	S416T	probably benign	Het
Specc1l	A	G	10: 75,246,348	Q543R	probably damaging	Het
Spef1	T	C	2: 131,172,741		probably null	Het
Spns1	A	T	7: 126,370,794	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,196,169	V821A	probably benign	Het
Stac3	A	G	10: 127,503,345	M108V	possibly damaging	Het
Stradb	A	G	1: 58,988,571	T87A	probably benign	Het
Stxbp5l	A	T	16: 37,134,230	M906K	probably benign	Het
Tex14	T	C	11: 87,514,485	V741A	probably benign	Het
Tpo	C	A	12: 30,075,871	G830C	probably damaging	Het
Unc79	T	A	12: 103,161,821	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,592,846	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,580,546	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,231,637	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,075,238	Y302H	probably benign	Het
Xirp2	A	T	2: 67,516,535	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,610,586	G684W	probably damaging	Het

Other mutations in Klhdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Klhdc4	APN	8	121821843	nonsense	probably null
IGL01678:Klhdc4	APN	8	121796938	missense	possibly damaging	0.73
kilimanjaro	UTSW	8	121813790	nonsense	probably null
R0577:Klhdc4	UTSW	8	121821351	missense	probably damaging	0.99
R0881:Klhdc4	UTSW	8	121799487	nonsense	probably null
R1710:Klhdc4	UTSW	8	121799487	nonsense	probably null
R2993:Klhdc4	UTSW	8	121806581	nonsense	probably null
R3028:Klhdc4	UTSW	8	121799549	missense	probably damaging	1.00
R3109:Klhdc4	UTSW	8	121821334	missense	probably damaging	1.00
R3711:Klhdc4	UTSW	8	121798055	missense	probably benign
R4132:Klhdc4	UTSW	8	121798065	missense	possibly damaging	0.79
R4601:Klhdc4	UTSW	8	121799527	missense	probably damaging	1.00
R4644:Klhdc4	UTSW	8	121822000	intron	probably benign
R4999:Klhdc4	UTSW	8	121796603	missense	probably benign	0.00
R5177:Klhdc4	UTSW	8	121813790	nonsense	probably null
R5364:Klhdc4	UTSW	8	121806636	intron	probably benign
R5475:Klhdc4	UTSW	8	121799572	missense	possibly damaging	0.67
R5705:Klhdc4	UTSW	8	121804993	missense	probably benign	0.01
R6248:Klhdc4	UTSW	8	121813768	missense	probably damaging	1.00
R6326:Klhdc4	UTSW	8	121805054	missense	probably damaging	1.00
R6626:Klhdc4	UTSW	8	121820162	missense	probably benign	0.43
R7274:Klhdc4	UTSW	8	121799658	critical splice acceptor site	probably null
R7716:Klhdc4	UTSW	8	121829420	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCTTACTCGGATCCATCTC -3'
(R):5'- GCCCCAAGTCTGAGAAGAAG -3'

Sequencing Primer
(F):5'- ACTCTTCCATCTTGTGAAGGTCAAGG -3'
(R):5'- CCCCAAGTCTGAGAAGAAGAAACG -3'

Posted On

2015-11-11