Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Klhl28'

390452

Institutional Source

Beutler Lab

Gene Symbol

Klhl28

Ensembl Gene

ENSMUSG00000020948

Gene Name

kelch-like 28

Synonyms

Btbd5, 4122402F11Rik, 2810440N09Rik, 4931401E10Rik

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64938833-64965534 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64957227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 171 (E171K)

Ref Sequence

ENSEMBL: ENSMUSP00000152602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021331] [ENSMUST00000222508]

AlphaFold

Q9CR40

Predicted Effect

probably damaging
Transcript: ENSMUST00000021331
AA Change: E171K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: E171K

Domain	Start	End	E-Value	Type
BTB	35	132	3.55e-30	SMART
BACK	137	239	1.83e-36	SMART
Kelch	284	331	3.52e-4	SMART
Kelch	332	386	4.23e-7	SMART
Kelch	387	433	1.99e-12	SMART
Kelch	434	479	1.64e-13	SMART
Kelch	480	526	5.12e-15	SMART
Kelch	527	571	5.29e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221957

Predicted Effect

probably damaging
Transcript: ENSMUST00000222508
AA Change: E171K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.3609

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddx11	G	A	17: 66,147,722	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Lrrfip2	T	C	9: 111,223,972	I375T	possibly damaging	Het
Mccc1	T	C	3: 35,979,017	N326S	probably benign	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg18	A	T	7: 18,349,354	V171D	probably damaging	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Qser1	T	C	2: 104,787,831	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Skint5	T	C	4: 113,546,537	T1163A	unknown	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	probably benign	Het

Other mutations in Klhl28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Klhl28	APN	12	64950066	missense	probably damaging	1.00
IGL03059:Klhl28	APN	12	64951566	missense	probably benign	0.00
IGL03246:Klhl28	APN	12	64957286	missense	probably benign
R0014:Klhl28	UTSW	12	64957302	missense	probably benign	0.06
R0607:Klhl28	UTSW	12	64951755	missense	probably damaging	1.00
R0975:Klhl28	UTSW	12	64951688	missense	possibly damaging	0.67
R1134:Klhl28	UTSW	12	64951617	missense	probably benign	0.01
R1480:Klhl28	UTSW	12	64957221	missense	probably damaging	1.00
R1675:Klhl28	UTSW	12	64951819	missense	probably damaging	1.00
R2064:Klhl28	UTSW	12	64943472	missense	probably benign	0.05
R3832:Klhl28	UTSW	12	64951421	missense	probably damaging	1.00
R3896:Klhl28	UTSW	12	64957559	missense	probably damaging	1.00
R4327:Klhl28	UTSW	12	64950178	missense	probably damaging	1.00
R4612:Klhl28	UTSW	12	64957260	missense	probably damaging	0.99
R4817:Klhl28	UTSW	12	64957269	missense	probably benign	0.00
R4872:Klhl28	UTSW	12	64957122	missense	possibly damaging	0.94
R5007:Klhl28	UTSW	12	64957227	missense	probably damaging	0.98
R5008:Klhl28	UTSW	12	64957227	missense	probably damaging	0.98
R5068:Klhl28	UTSW	12	64957712	missense	probably benign	0.10
R5070:Klhl28	UTSW	12	64957712	missense	probably benign	0.10
R6666:Klhl28	UTSW	12	64943527	missense	probably benign	0.11
R7812:Klhl28	UTSW	12	64943589	missense	possibly damaging	0.74
R7951:Klhl28	UTSW	12	64957101	missense	probably damaging	1.00
R8219:Klhl28	UTSW	12	64951657	missense	probably benign	0.45
R8411:Klhl28	UTSW	12	64950090	missense	probably damaging	1.00
R8526:Klhl28	UTSW	12	64951626	missense	probably damaging	0.96
R9103:Klhl28	UTSW	12	64943526	missense	possibly damaging	0.94
R9769:Klhl28	UTSW	12	64951556	missense	probably benign	0.00
R9789:Klhl28	UTSW	12	64950097	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGAGGAACTTAACGCTCAGC -3'
(R):5'- AGGACACAGTTGAATCTCTCCTG -3'

Sequencing Primer
(F):5'- GCAATGGTAACCGTACACTGTTCAG -3'
(R):5'- AGTTGAATCTCTCCTGCCAGCAG -3'

Posted On

2016-06-06