Mutagenetix > Incidental Mutation

Incidental Mutation 'R5284:Klhl7'

402933

Institutional Source

Beutler Lab

Gene Symbol

Klhl7

Ensembl Gene

ENSMUSG00000028986

Gene Name

kelch-like 7

Synonyms

SBBI26, Klhl6, 2700038B03Rik, D5Ertd363e

MMRRC Submission

042841-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R5284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24305603-24365790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24364615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 550 (T550A)

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: T550A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: T550A

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,630,483 (GRCm39)	Q1259L	probably benign	Het
Arhgef26	T	C	3: 62,327,052 (GRCm39)	S522P	probably damaging	Het
Asic5	C	T	3: 81,915,830 (GRCm39)	P218L	probably damaging	Het
Atad1	T	C	19: 32,664,671 (GRCm39)	M248V	probably benign	Het
Bank1	T	C	3: 135,769,915 (GRCm39)	D522G	probably damaging	Het
Bod1l	G	A	5: 41,977,810 (GRCm39)	S1168L	probably benign	Het
Cactin	A	G	10: 81,159,596 (GRCm39)	D51G	probably damaging	Het
Camkk1	A	G	11: 72,928,381 (GRCm39)	D261G	probably benign	Het
Cep152	A	G	2: 125,421,941 (GRCm39)	S930P	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Crim1	A	T	17: 78,620,695 (GRCm39)	R378S	possibly damaging	Het
Dcun1d4	T	C	5: 73,680,025 (GRCm39)		probably null	Het
Dhdds	A	G	4: 133,707,523 (GRCm39)	V187A	probably benign	Het
Ecpas	C	T	4: 58,836,172 (GRCm39)	E723K	possibly damaging	Het
Egfem1	A	G	3: 29,704,936 (GRCm39)	E251G	possibly damaging	Het
Ehhadh	T	C	16: 21,582,094 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Epb41l4a	T	A	18: 33,931,853 (GRCm39)	T581S	probably damaging	Het
Erg	C	T	16: 95,260,102 (GRCm39)	M1I	probably null	Het
Fastkd1	T	C	2: 69,542,532 (GRCm39)	T92A	probably benign	Het
Gabpb1	T	C	2: 126,494,277 (GRCm39)	H116R	possibly damaging	Het
Gucy2c	A	G	6: 136,740,041 (GRCm39)	L262P	possibly damaging	Het
Ifi203	C	T	1: 173,756,274 (GRCm39)		probably benign	Het
Kcnk13	A	C	12: 100,027,548 (GRCm39)	I208L	probably benign	Het
Krtap12-1	G	T	10: 77,556,799 (GRCm39)	C114F	possibly damaging	Het
Myh7b	A	G	2: 155,474,234 (GRCm39)	T1650A	probably benign	Het
Myo19	T	A	11: 84,776,098 (GRCm39)		probably null	Het
Nav1	C	T	1: 135,377,701 (GRCm39)	W1656*	probably null	Het
Nup188	A	T	2: 30,220,647 (GRCm39)	S907C	probably damaging	Het
Oplah	A	T	15: 76,190,759 (GRCm39)	H125Q	probably benign	Het
Or6d12	T	A	6: 116,493,513 (GRCm39)	Y258*	probably null	Het
Pcnx1	A	T	12: 81,965,803 (GRCm39)	T657S	probably benign	Het
Phf14	C	A	6: 11,997,119 (GRCm39)	Q796K	probably damaging	Het
Plaa	T	C	4: 94,457,874 (GRCm39)	I699V	probably benign	Het
Prex2	C	A	1: 11,336,314 (GRCm39)	S1504*	probably null	Het
Prpf18	G	A	2: 4,650,481 (GRCm39)	Q50*	probably null	Het
Rnf213	A	G	11: 119,349,692 (GRCm39)	Y3851C	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,733 (GRCm39)	D726G	probably damaging	Het
Sacm1l	T	C	9: 123,415,485 (GRCm39)	S487P	probably damaging	Het
Setdb1	G	T	3: 95,234,881 (GRCm39)	R941S	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Smg8	G	A	11: 86,971,137 (GRCm39)	S878L	possibly damaging	Het
Trpc4	T	A	3: 54,187,368 (GRCm39)	V440E	probably damaging	Het
Tsen15	A	G	1: 152,247,624 (GRCm39)	S123P	probably damaging	Het
Tspan12	G	T	6: 21,835,466 (GRCm39)	A69D	probably damaging	Het
Ubiad1	G	A	4: 148,520,955 (GRCm39)	T223M	probably damaging	Het
Ubtfl1	A	T	9: 18,320,741 (GRCm39)	K90*	probably null	Het
Wdr19	C	T	5: 65,382,752 (GRCm39)	T492I	probably damaging	Het
Zfp423	C	T	8: 88,508,305 (GRCm39)	D659N	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
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
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'- TGAAGGTGGTCTGGACAATG -3'
(R):5'- TTCTCTGATGAGCATGCCCC -3'

Sequencing Primer
(F):5'- GTCTGGACAATGTGGAATATTACG -3'
(R):5'- CGAACTCTTGGAATAAACCACTGGTG -3'

Posted On

2016-07-22