Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02135:Klhl7'

281268

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: 0.590) question?

Stock #

IGL02135

Quality Score

Status

Chromosome

Chromosomal Location

24305603-24365790 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24346279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 308 (Y308*)

Ref Sequence

ENSEMBL: ENSMUSP00000143000 (fasta)

Gene Model

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

AlphaFold

Q8BUL5

Predicted Effect

probably null
Transcript: ENSMUST00000030841
AA Change: Y308*

SMART Domains

Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: Y308*

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 null
Transcript: ENSMUST00000163409
AA Change: Y308*

SMART Domains

Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986
AA Change: Y308*

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

probably null
Transcript: ENSMUST00000200116
AA Change: Y308*

SMART Domains

Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986
AA Change: Y308*

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
4930407I10Rik	A	G	15: 81,949,205 (GRCm39)	H1034R	possibly damaging	Het
Aoc1l1	G	A	6: 48,952,498 (GRCm39)	R141Q	probably benign	Het
App	A	G	16: 84,876,726 (GRCm39)		probably null	Het
Arhgap23	G	T	11: 97,342,528 (GRCm39)	R270L	probably damaging	Het
Arhgap36	T	C	X: 48,586,066 (GRCm39)	I342T	possibly damaging	Het
Arhgef12	A	T	9: 42,883,461 (GRCm39)	M1356K	possibly damaging	Het
Armh4	T	C	14: 50,011,386 (GRCm39)	K107R	probably damaging	Het
Asap3	A	C	4: 135,968,464 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,167,214 (GRCm39)		probably null	Het
Cdh20	T	A	1: 110,066,004 (GRCm39)	Y759*	probably null	Het
Celsr3	A	G	9: 108,704,755 (GRCm39)	T413A	probably benign	Het
Cep97	A	T	16: 55,743,330 (GRCm39)	I102K	probably damaging	Het
Ces2a	T	C	8: 105,466,813 (GRCm39)	S441P	probably benign	Het
Cops2	T	C	2: 125,674,163 (GRCm39)	T435A	probably benign	Het
Ctc1	A	G	11: 68,911,989 (GRCm39)	N56S	probably benign	Het
Dennd2a	G	A	6: 39,457,205 (GRCm39)	R746*	probably null	Het
Dnah5	T	A	15: 28,248,031 (GRCm39)	C723S	possibly damaging	Het
Dnah7a	A	C	1: 53,662,632 (GRCm39)	V643G	probably benign	Het
Dnah9	A	T	11: 66,008,318 (GRCm39)	S836T	possibly damaging	Het
Edc4	T	A	8: 106,612,454 (GRCm39)	V164D	probably damaging	Het
Gcfc2	A	T	6: 81,918,381 (GRCm39)	D357V	probably damaging	Het
Grem1	T	C	2: 113,580,132 (GRCm39)	N123S	probably damaging	Het
Gria1	T	C	11: 57,076,679 (GRCm39)	V94A	probably damaging	Het
Hipk2	G	A	6: 38,795,934 (GRCm39)	H112Y	possibly damaging	Het
Il7r	T	C	15: 9,508,092 (GRCm39)	N410S	probably benign	Het
Insr	A	T	8: 3,308,741 (GRCm39)	S98R	probably damaging	Het
Lcp1	T	C	14: 75,437,926 (GRCm39)	V112A	probably benign	Het
Map2	A	T	1: 66,419,920 (GRCm39)	R84*	probably null	Het
Mgst1	A	T	6: 138,124,766 (GRCm39)	M27L	probably damaging	Het
Mroh7	A	G	4: 106,559,707 (GRCm39)	L740P	probably damaging	Het
Mybpc3	T	C	2: 90,955,171 (GRCm39)	F507L	possibly damaging	Het
Nqo2	A	T	13: 34,169,326 (GRCm39)	K183*	probably null	Het
Nt5c1b	T	C	12: 10,427,194 (GRCm39)	Y315H	probably damaging	Het
Odc1	T	A	12: 17,597,674 (GRCm39)	I48N	probably damaging	Het
Or2a56	A	G	6: 42,932,585 (GRCm39)	D51G	probably damaging	Het
Or7a37	T	A	10: 78,805,940 (GRCm39)	S152R	probably damaging	Het
Osbpl5	T	A	7: 143,258,862 (GRCm39)	D236V	probably damaging	Het
Prkg1	A	G	19: 30,970,476 (GRCm39)	Y212H	probably benign	Het
Pttg1ip	T	C	10: 77,425,578 (GRCm39)		probably null	Het
Serpina1f	T	A	12: 103,659,974 (GRCm39)	T103S	possibly damaging	Het
Skp2	T	C	15: 9,125,234 (GRCm39)	D115G	probably benign	Het
Slc25a30	C	T	14: 76,004,435 (GRCm39)	V221I	probably benign	Het
Slc7a3	A	C	X: 100,123,098 (GRCm39)	D609E	probably benign	Het
Strc	C	T	2: 121,195,315 (GRCm39)	G1656D	probably damaging	Het
Tbc1d8	A	G	1: 39,441,891 (GRCm39)	F234L	probably damaging	Het
Tgm7	T	G	2: 120,929,519 (GRCm39)	I252L	possibly damaging	Het
Tlr5	A	G	1: 182,800,819 (GRCm39)	D41G	possibly damaging	Het
Tns2	T	C	15: 102,021,461 (GRCm39)	L1034P	probably damaging	Het
Trim15	A	G	17: 37,177,956 (GRCm39)	V13A	probably benign	Het
Uros	C	T	7: 133,288,734 (GRCm39)	V258M	possibly damaging	Het
Wdr75	A	G	1: 45,853,723 (GRCm39)	Y378C	probably damaging	Het
Wdr75	G	A	1: 45,856,608 (GRCm39)		probably null	Het
Wdr82	G	T	9: 106,048,443 (GRCm39)	R9L	possibly damaging	Het
Ybx3	G	A	6: 131,357,892 (GRCm39)	R125C	probably damaging	Het
Zc3h12b	A	G	X: 94,942,870 (GRCm39)	T49A	probably benign	Het
Zfyve27	G	A	19: 42,172,575 (GRCm39)	V279M	probably damaging	Het

Other mutations in Klhl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03149:Klhl7	APN	5	24,364,687 (GRCm39)	missense	probably benign	0.02
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

2015-04-16