Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Klhl7'

380896

Institutional Source

Beutler Lab

Gene Symbol

Klhl7

Ensembl Gene

ENSMUSG00000028986

Gene Name

kelch-like 7

Synonyms

SBBI26, Klhl6, 2700038B03Rik, D5Ertd363e

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24305603-24365790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24346185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 277 (R277Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030841 (fasta)

Gene Model

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

AlphaFold

Q8BUL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030841
AA Change: R277Q

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: R277Q

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
AA Change: R277Q

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986
AA Change: R277Q

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

possibly damaging
Transcript: ENSMUST00000200116
AA Change: R277Q

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986
AA Change: R277Q

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

0.1305

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	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
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
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'- CCCCTTTCTTTCTAGAACACTAGAG -3'
(R):5'- GGGAAACTTGAAATGCAGCCC -3'

Sequencing Primer
(F):5'- CAGTTCCTGAAGCTCTCT -3'
(R):5'- TGAAATGCAGCCCTCAATTTC -3'

Posted On

2016-04-15