Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Klhdc7a'

295212

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhdc7a

Ensembl Gene

ENSMUSG00000078234

Gene Name

kelch domain containing 7A

Synonyms

B230308G19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

139689484-139695337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139693121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 609 (T609S)

Ref Sequence

ENSEMBL: ENSMUSP00000100648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105031]

AlphaFold

A2APT9

Predicted Effect

probably benign
Transcript: ENSMUST00000105031
AA Change: T609S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: T609S

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
low complexity region	81	93	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
Kelch	537	585	4.83e-2	SMART
Kelch	586	631	4.98e-4	SMART
low complexity region	756	769	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158669

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cdkl2	A	T	5: 92,185,130 (GRCm39)	I87N	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gsr	T	C	8: 34,175,569 (GRCm39)		probably benign	Het
Gtf2h1	T	C	7: 46,454,417 (GRCm39)	L133P	probably damaging	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Irx5	A	G	8: 93,087,307 (GRCm39)	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Klhdc7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Klhdc7a	APN	4	139,694,236 (GRCm39)	missense	probably benign	0.00
IGL01588:Klhdc7a	APN	4	139,694,257 (GRCm39)	missense	probably damaging	0.98
IGL01593:Klhdc7a	APN	4	139,694,125 (GRCm39)	missense	probably damaging	1.00
IGL01719:Klhdc7a	APN	4	139,693,861 (GRCm39)	missense	probably damaging	1.00
IGL02333:Klhdc7a	APN	4	139,694,467 (GRCm39)	missense	probably benign	0.07
R0153:Klhdc7a	UTSW	4	139,694,582 (GRCm39)	missense	possibly damaging	0.83
R0385:Klhdc7a	UTSW	4	139,694,016 (GRCm39)	missense	probably benign
R1280:Klhdc7a	UTSW	4	139,692,764 (GRCm39)	missense	probably benign	0.01
R1456:Klhdc7a	UTSW	4	139,692,835 (GRCm39)	missense	possibly damaging	0.46
R1837:Klhdc7a	UTSW	4	139,694,381 (GRCm39)	missense	probably benign	0.31
R1838:Klhdc7a	UTSW	4	139,694,381 (GRCm39)	missense	probably benign	0.31
R1987:Klhdc7a	UTSW	4	139,693,335 (GRCm39)	nonsense	probably null
R2172:Klhdc7a	UTSW	4	139,693,121 (GRCm39)	missense	probably benign	0.25
R2220:Klhdc7a	UTSW	4	139,692,764 (GRCm39)	missense	probably benign	0.01
R3154:Klhdc7a	UTSW	4	139,693,024 (GRCm39)	missense	probably benign	0.20
R3155:Klhdc7a	UTSW	4	139,694,500 (GRCm39)	missense	probably benign	0.01
R4242:Klhdc7a	UTSW	4	139,694,032 (GRCm39)	missense	probably benign	0.01
R4349:Klhdc7a	UTSW	4	139,693,588 (GRCm39)	missense	possibly damaging	0.67
R5859:Klhdc7a	UTSW	4	139,694,885 (GRCm39)	missense	probably damaging	0.96
R6316:Klhdc7a	UTSW	4	139,694,113 (GRCm39)	missense	probably benign	0.00
R6342:Klhdc7a	UTSW	4	139,694,370 (GRCm39)	missense	probably benign	0.09
R6755:Klhdc7a	UTSW	4	139,693,786 (GRCm39)	missense	possibly damaging	0.80
R7528:Klhdc7a	UTSW	4	139,694,828 (GRCm39)	missense	probably damaging	1.00
R7648:Klhdc7a	UTSW	4	139,693,250 (GRCm39)	missense	possibly damaging	0.66
R7842:Klhdc7a	UTSW	4	139,694,549 (GRCm39)	missense	probably damaging	0.97
R7843:Klhdc7a	UTSW	4	139,694,155 (GRCm39)	missense	possibly damaging	0.87
R7992:Klhdc7a	UTSW	4	139,693,045 (GRCm39)	missense	probably damaging	1.00
R8476:Klhdc7a	UTSW	4	139,693,051 (GRCm39)	missense	probably damaging	1.00
R8874:Klhdc7a	UTSW	4	139,694,896 (GRCm39)	missense	probably damaging	0.99
R9334:Klhdc7a	UTSW	4	139,693,493 (GRCm39)	missense	probably benign	0.14
X0002:Klhdc7a	UTSW	4	139,693,675 (GRCm39)	small deletion	probably benign
Z1176:Klhdc7a	UTSW	4	139,695,108 (GRCm39)	start gained	probably benign
Z1177:Klhdc7a	UTSW	4	139,694,311 (GRCm39)	missense	probably benign	0.00
Z1177:Klhdc7a	UTSW	4	139,692,973 (GRCm39)	missense	probably benign	0.14
Z1187:Klhdc7a	UTSW	4	139,693,852 (GRCm39)	missense	probably damaging	1.00
Z1190:Klhdc7a	UTSW	4	139,693,852 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16