Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Klhl7'

411038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl7

Ensembl Gene

ENSMUSG00000028986

Gene Name

kelch-like 7

Synonyms

SBBI26, Klhl6, 2700038B03Rik, D5Ertd363e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

24305603-24365790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24364687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 574 (V574I)

Ref Sequence

ENSEMBL: ENSMUSP00000030841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030841] [ENSMUST00000163409] [ENSMUST00000200116]

AlphaFold

Q8BUL5

Predicted Effect

probably benign
Transcript: ENSMUST00000030841
AA Change: V574I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: V574I

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
BTB	44	141	7.49e-29	SMART
BACK	146	248	8.42e-36	SMART
Kelch	337	382	7.5e0	SMART
Kelch	383	430	1.97e-7	SMART
Kelch	431	481	2.25e-11	SMART
Kelch	482	528	4.4e-5	SMART
Blast:Kelch	529	576	1e-25	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163409

SMART Domains

Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
BTB	44	141	7.49e-29	SMART
BACK	146	248	8.42e-36	SMART
Kelch	337	382	7.5e0	SMART
Kelch	383	430	1.97e-7	SMART
Kelch	431	470	4.1e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196080

Predicted Effect

probably benign
Transcript: ENSMUST00000200116

SMART Domains

Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
BTB	44	141	4.7e-31	SMART
BACK	146	248	6.3e-40	SMART
Pfam:Kelch_1	325	365	2.4e-4	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Ikzf5	T	C	7: 130,998,494 (GRCm39)	K13E	probably damaging	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	Het

Other mutations in Klhl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02135:Klhl7	APN	5	24,346,279 (GRCm39)	nonsense	probably null
R0433:Klhl7	UTSW	5	24,332,700 (GRCm39)	missense	probably damaging	0.98
R1301:Klhl7	UTSW	5	24,364,489 (GRCm39)	missense	probably damaging	1.00
R1521:Klhl7	UTSW	5	24,354,108 (GRCm39)	splice site	probably null
R2143:Klhl7	UTSW	5	24,305,861 (GRCm39)	missense	probably benign
R2144:Klhl7	UTSW	5	24,305,861 (GRCm39)	missense	probably benign
R2145:Klhl7	UTSW	5	24,305,861 (GRCm39)	missense	probably benign
R3409:Klhl7	UTSW	5	24,343,319 (GRCm39)	missense	probably damaging	0.96
R3410:Klhl7	UTSW	5	24,343,319 (GRCm39)	missense	probably damaging	0.96
R3411:Klhl7	UTSW	5	24,343,319 (GRCm39)	missense	probably damaging	0.96
R4927:Klhl7	UTSW	5	24,346,185 (GRCm39)	missense	possibly damaging	0.81
R5284:Klhl7	UTSW	5	24,364,615 (GRCm39)	missense	probably benign	0.01
R5316:Klhl7	UTSW	5	24,332,748 (GRCm39)	missense	probably benign	0.30
R5400:Klhl7	UTSW	5	24,331,918 (GRCm39)	missense	probably damaging	1.00
R6644:Klhl7	UTSW	5	24,354,244 (GRCm39)	missense	probably damaging	1.00
R7122:Klhl7	UTSW	5	24,343,433 (GRCm39)	missense	probably damaging	0.99
R7567:Klhl7	UTSW	5	24,331,844 (GRCm39)	missense	probably benign
R7658:Klhl7	UTSW	5	24,346,284 (GRCm39)	missense	probably benign	0.11
R8312:Klhl7	UTSW	5	24,339,965 (GRCm39)	missense	probably damaging	1.00
R8431:Klhl7	UTSW	5	24,343,473 (GRCm39)	missense	possibly damaging	0.82
R8827:Klhl7	UTSW	5	24,363,635 (GRCm39)	critical splice donor site	probably null
R9163:Klhl7	UTSW	5	24,364,465 (GRCm39)	missense	probably damaging	1.00
R9746:Klhl7	UTSW	5	24,331,818 (GRCm39)	critical splice acceptor site	probably null
X0067:Klhl7	UTSW	5	24,346,293 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02