Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Klhdc4'

505611

Institutional Source

Beutler Lab

Gene Symbol

Klhdc4

Ensembl Gene

ENSMUSG00000040263

Gene Name

kelch domain containing 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121796313-121829569 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121813768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 92 (F92L)

Ref Sequence

ENSEMBL: ENSMUSP00000134487 (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: F149L

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

SMART Domains

Protein: ENSMUSP00000043439
Gene: ENSMUSG00000040263
AA Change: F149L

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: F92L

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

SMART Domains

Protein: ENSMUSP00000134487
Gene: ENSMUSG00000040263
AA Change: F92L

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

silent
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 damaging
Transcript: ENSMUST00000174717
AA Change: F149L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134361
Gene: ENSMUSG00000040263
AA Change: F149L

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

0.2519

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,408	S83P	possibly damaging	Het
Actr10	A	T	12: 70,952,959	E176D	probably benign	Het
Adcy3	G	A	12: 4,208,662		probably null	Het
AI429214	T	A	8: 36,994,124	I142N	probably damaging	Het
Alox12	A	G	11: 70,253,110	L148S	probably damaging	Het
Ank3	A	G	10: 69,973,850	I1147V	probably benign	Het
Apoc2	C	T	7: 19,673,568	V12I	probably benign	Het
Arap3	T	C	18: 37,991,354	S311G	probably benign	Het
Arih2	G	T	9: 108,611,642	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,308,194	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,714	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,408,855	N118K	probably damaging	Het
Cntnap5b	A	G	1: 100,072,102	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,562,731		probably null	Het
Cyp4f37	A	G	17: 32,629,890	D244G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dido1	T	A	2: 180,660,255	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,794,219		probably null	Het
Dnal4	T	A	15: 79,762,513	M56L	probably damaging	Het
Emilin2	A	G	17: 71,274,117	V538A	probably benign	Het
Eps8l2	A	G	7: 141,342,102	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479	L112*	probably null	Het
Etl4	C	T	2: 20,809,089	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,182,281	F510L	probably benign	Het
Fam114a2	G	T	11: 57,493,116	T324K	possibly damaging	Het
Fer1l4	G	A	2: 156,046,171	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,459,212	S2R	probably benign	Het
Fscn1	A	T	5: 142,961,023	D192V	possibly damaging	Het
Gm15922	C	A	7: 3,736,338	E510D	probably benign	Het
Gm3486	T	A	14: 41,484,515	*200C	probably null	Het
Gusb	A	T	5: 130,000,525	H138Q	probably benign	Het
Hdac9	A	T	12: 34,528,294	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,318,705	R439L	probably benign	Het
Hoxd9	A	G	2: 74,698,636	E194G	probably benign	Het
Itgb1	A	G	8: 128,722,421	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,509,478	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,147,049	S727L	possibly damaging	Het
Klrb1a	A	G	6: 128,619,174	V62A	probably damaging	Het
Krit1	A	G	5: 3,813,032		probably null	Het
Krt40	A	G	11: 99,541,740	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,158,702	T464A	probably benign	Het
Lrrc52	T	G	1: 167,466,395	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,518,680	V35F	probably damaging	Het
Mccc1	A	G	3: 35,990,164	V171A	probably damaging	Het
Metap1d	A	T	2: 71,515,760	R222*	probably null	Het
Mrgpre	G	A	7: 143,780,866	A300V	probably benign	Het
Mterf1b	C	A	5: 4,196,606	N82K	probably benign	Het
Myh9	C	T	15: 77,785,222	W533*	probably null	Het
Myom2	A	G	8: 15,098,472		probably null	Het
Ncor1	G	A	11: 62,366,982	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,196,492		probably benign	Het
Olfr1348	A	T	7: 6,501,676	C183*	probably null	Het
Olfr1361	A	T	13: 21,659,074	I83N	possibly damaging	Het
Olfr417	T	G	1: 174,369,670	V251G	probably benign	Het
Olfr47	C	T	6: 43,235,904	Q99*	probably null	Het
Olfr551	T	C	7: 102,588,030	T238A	probably benign	Het
Olfr800	A	G	10: 129,660,663	I286V	probably benign	Het
Olfr96	T	A	17: 37,225,560	L145*	probably null	Het
Pcdha11	T	C	18: 37,005,897	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,506,232	F604I	probably damaging	Het
Pde1a	T	C	2: 79,878,201	H291R	probably damaging	Het
Pfkm	G	A	15: 98,126,379	V423M	probably damaging	Het
Pkd2l1	G	T	19: 44,157,669	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,529,559	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,872,587	T282I	probably damaging	Het
Prpf39	A	C	12: 65,042,754	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,710,338	F743L	probably damaging	Het
Raver2	A	G	4: 101,134,123		probably null	Het
Ric8b	T	C	10: 84,947,845	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,668,392	F13L	probably benign	Het
Scd2	T	C	19: 44,303,009	F296L	probably damaging	Het
Scg2	G	T	1: 79,436,306	D233E	probably benign	Het
Sema5b	C	A	16: 35,628,007		probably null	Het
Skint5	A	T	4: 113,779,089	V644E	unknown	Het
Slc44a5	G	T	3: 154,264,041	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,235	R107*	probably null	Het
Sun5	G	T	2: 153,860,669	T189K	probably damaging	Het
Tap1	A	T	17: 34,193,177	E452V	probably damaging	Het
Tcam1	A	G	11: 106,282,826	N32S	probably benign	Het
Tep1	T	C	14: 50,830,258	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Tmem175	T	C	5: 108,645,955	V317A	probably damaging	Het
Tsga13	A	G	6: 30,897,204	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,971	S126P	probably damaging	Het
Uvrag	G	T	7: 98,988,191	D143E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,774	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,545,287	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,399,860	T822A	probably benign	Het
Vmn2r67	T	C	7: 85,150,560	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,783,185	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp831	A	T	2: 174,644,515	T328S	possibly 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
R4758:Klhdc4	UTSW	8	121798044	missense	probably benign	0.00
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
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
R8430:Klhdc4	UTSW	8	121799513	missense	possibly damaging	0.82
R8841:Klhdc4	UTSW	8	121796641	missense	possibly damaging	0.84
R9089:Klhdc4	UTSW	8	121797945	missense	probably benign	0.06
R9443:Klhdc4	UTSW	8	121797026	missense	possibly damaging	0.68
R9461:Klhdc4	UTSW	8	121799485	missense	probably damaging	1.00
R9612:Klhdc4	UTSW	8	121801178	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATTCAGGCCCAACACTGCTC -3'
(R):5'- ACTGAGGGAGTGACTGAGATTC -3'

Sequencing Primer
(F):5'- AACACTGCTCACGGCTC -3'
(R):5'- AGTGACTGAGATTCTAGGTGGATG -3'

Posted On

2018-02-28