Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Klhl7'

158359

Institutional Source

Beutler Lab

Gene Symbol

Klhl7

Ensembl Gene

ENSMUSG00000028986

Gene Name

kelch-like 7

Synonyms

SBBI26, Klhl6, 2700038B03Rik, D5Ertd363e

MMRRC Submission

039367-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24305603-24365790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24364489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 508 (W508G)

Ref Sequence

ENSEMBL: ENSMUSP00000030841 (fasta)

Gene Model

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

AlphaFold

Q8BUL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030841
AA Change: W508G

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

SMART Domains

Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: W508G

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

Meta Mutation Damage Score

0.9741

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

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
Aadacl4fm2	T	A	4: 144,291,635 (GRCm39)	I24L	probably benign	Het
Ano1	A	G	7: 144,187,426 (GRCm39)	W447R	possibly damaging	Het
Blm	T	A	7: 80,105,165 (GRCm39)	K103*	probably null	Het
Camta2	A	G	11: 70,567,230 (GRCm39)	I675T	probably benign	Het
Catsperz	G	A	19: 6,902,450 (GRCm39)	R15C	probably damaging	Het
Chd1l	T	C	3: 97,510,964 (GRCm39)		probably benign	Het
Corin	C	A	5: 72,462,276 (GRCm39)	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 106,938,104 (GRCm39)	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,286,569 (GRCm39)	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,185,528 (GRCm39)		probably null	Het
Emilin2	T	C	17: 71,562,960 (GRCm39)		probably benign	Het
Epb41l2	T	A	10: 25,319,800 (GRCm39)	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,759,427 (GRCm39)	M166I	probably benign	Het
Golm1	T	C	13: 59,786,187 (GRCm39)	D335G	probably damaging	Het
Gpn1	T	A	5: 31,660,773 (GRCm39)	M188K	probably damaging	Het
Gpr84	T	A	15: 103,217,646 (GRCm39)	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,200 (GRCm39)	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,738,908 (GRCm39)		probably null	Het
Hmgcr	G	A	13: 96,795,528 (GRCm39)	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,788,774 (GRCm39)		probably benign	Het
Hsd3b9	G	A	3: 98,354,182 (GRCm39)	Q106*	probably null	Het
Lrp2	C	A	2: 69,258,948 (GRCm39)	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 157,840,968 (GRCm39)	N1357D	probably benign	Het
Macf1	T	C	4: 123,380,451 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,577,692 (GRCm39)	T329A	probably damaging	Het
Mroh9	C	T	1: 162,871,552 (GRCm39)		probably null	Het
Mta2	A	G	19: 8,926,550 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,271,906 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,384,352 (GRCm39)	D153G	probably benign	Het
Nup133	T	C	8: 124,644,156 (GRCm39)		probably benign	Het
Nup210	C	T	6: 91,019,329 (GRCm39)	V259M	possibly damaging	Het
Or10ak14	C	T	4: 118,610,816 (GRCm39)	M308I	probably benign	Het
Or5b112	A	T	19: 13,319,211 (GRCm39)	I30F	probably benign	Het
Or9i14	A	T	19: 13,792,726 (GRCm39)	V76D	probably damaging	Het
Otog	C	T	7: 45,939,113 (GRCm39)	R2048C	probably damaging	Het
Pacc1	T	C	1: 191,080,632 (GRCm39)	V284A	probably damaging	Het
Paqr7	T	C	4: 134,235,124 (GRCm39)	L327P	probably damaging	Het
Parl	A	G	16: 20,105,676 (GRCm39)	S249P	probably damaging	Het
Phc1	A	G	6: 122,302,833 (GRCm39)	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,160,831 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,971,477 (GRCm39)	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,812,870 (GRCm39)	F194L	probably benign	Het
Rp1	A	T	1: 4,416,159 (GRCm39)	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,943 (GRCm39)	R47*	probably null	Het
Sis	T	C	3: 72,853,915 (GRCm39)	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,118,308 (GRCm39)	D209G	probably benign	Het
Slc26a4	A	T	12: 31,575,567 (GRCm39)	C706*	probably null	Het
Slc37a2	A	G	9: 37,148,177 (GRCm39)	V325A	probably benign	Het
Speg	T	A	1: 75,378,145 (GRCm39)	D784E	probably damaging	Het
Sycp1	T	C	3: 102,827,938 (GRCm39)	I270V	probably benign	Het
Tatdn2	T	A	6: 113,681,076 (GRCm39)	F309I	probably damaging	Het
Tmem67	T	C	4: 12,089,400 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,852,801 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,782,714 (GRCm39)	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,300,854 (GRCm39)	V2299A	probably benign	Het
Zfp819	T	A	7: 43,266,524 (GRCm39)	S260T	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGATTGACCTTCTCACGTTCCCAC -3'
(R):5'- CGGACTTTTGAGTTGGCGATCCAC -3'

Sequencing Primer
(F):5'- ATTttgttgttgttgttgttgttTG -3'
(R):5'- AGTTGGCGATCCACTTATCTG -3'

Posted On

2014-02-18