Mutagenetix > Incidental Mutation

Incidental Mutation 'R3410:Klhl7'

258452

Institutional Source

Beutler Lab

Gene Symbol

Klhl7

Ensembl Gene

ENSMUSG00000028986

Gene Name

kelch-like 7

Synonyms

SBBI26, Klhl6, 2700038B03Rik, D5Ertd363e

MMRRC Submission

040628-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R3410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24305603-24365790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24343319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 212 (V212L)

Ref Sequence

ENSEMBL: ENSMUSP00000143000 (fasta)

Gene Model

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

AlphaFold

Q8BUL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030841
AA Change: V212L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: V212L

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 damaging
Transcript: ENSMUST00000163409
AA Change: V212L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986
AA Change: V212L

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: ENSMUST00000199530

Predicted Effect

probably damaging
Transcript: ENSMUST00000200116
AA Change: V212L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986
AA Change: V212L

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (59/59)

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
Adad2	T	C	8: 120,342,708 (GRCm39)	V418A	probably benign	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Adgrg6	A	G	10: 14,316,114 (GRCm39)	F569S	probably benign	Het
Alcam	T	C	16: 52,130,261 (GRCm39)	T30A	probably null	Het
Arnt2	G	A	7: 83,924,655 (GRCm39)	R391W	probably damaging	Het
Ascc3	T	C	10: 50,576,196 (GRCm39)	V817A	probably damaging	Het
Atp13a4	G	T	16: 29,232,567 (GRCm39)	T923K	probably damaging	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Ccdc185	T	G	1: 182,576,313 (GRCm39)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Cct2	T	C	10: 116,897,968 (GRCm39)	N73S	probably benign	Het
Clock	G	A	5: 76,377,401 (GRCm39)	Q633*	probably null	Het
Col6a2	T	C	10: 76,439,193 (GRCm39)	I826V	probably benign	Het
Cpsf1	G	T	15: 76,485,981 (GRCm39)	Y396*	probably null	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dxo	A	G	17: 35,057,825 (GRCm39)	N177D	probably damaging	Het
Fbxw28	A	T	9: 109,167,472 (GRCm39)	V95E	possibly damaging	Het
Galnt6	T	C	15: 100,597,018 (GRCm39)	N383D	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Gsdmc4	A	G	15: 63,763,895 (GRCm39)	S401P	probably benign	Het
Gspt1	A	T	16: 11,047,109 (GRCm39)	D435E	probably damaging	Het
Hsf2	T	C	10: 57,381,378 (GRCm39)	S266P	probably damaging	Het
Jade2	T	C	11: 51,708,050 (GRCm39)	D721G	probably benign	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
L3mbtl3	T	C	10: 26,215,197 (GRCm39)	N196S	unknown	Het
Lama3	G	C	18: 12,546,915 (GRCm39)		probably null	Het
Mcm5	T	C	8: 75,848,272 (GRCm39)	M507T	possibly damaging	Het
Mycbp2	T	C	14: 103,372,553 (GRCm39)	R814G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,456 (GRCm39)	E186G	probably damaging	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Nudcd1	T	C	15: 44,284,207 (GRCm39)	M60V	probably benign	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p63	G	A	7: 107,811,490 (GRCm39)	P82L	possibly damaging	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Ovol2	A	G	2: 144,159,796 (GRCm39)	S82P	probably benign	Het
Ppl	T	C	16: 4,925,381 (GRCm39)	E86G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Scml4	A	G	10: 42,833,667 (GRCm39)	Y327C	probably damaging	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Sltm	T	G	9: 70,493,240 (GRCm39)	L728V	probably damaging	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Sycp1	T	C	3: 102,748,357 (GRCm39)	K812E	possibly damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm39)	M288K	probably benign	Het
Toporsl	T	C	4: 52,610,970 (GRCm39)	S288P	probably benign	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	probably benign	Het
Vmn2r89	A	T	14: 51,693,628 (GRCm39)	E326V	probably damaging	Het
Wdr81	A	G	11: 75,343,758 (GRCm39)	I503T	probably 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
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
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'- CAGGTAAGTTTGTTAAGTCACACTG -3'
(R):5'- TCAACATAATGGTCTAACGGGAAC -3'

Sequencing Primer
(F):5'- TCACACTGTAGAAATACAAGGTTAAG -3'
(R):5'- GGTCTAACGGGAACTTACTTATCACC -3'

Posted On

2015-01-23