Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Klhl28'

188013

Institutional Source

Beutler Lab

Gene Symbol

Klhl28

Ensembl Gene

ENSMUSG00000020948

Gene Name

kelch-like 28

Synonyms

Btbd5, 4122402F11Rik, 2810440N09Rik, 4931401E10Rik

MMRRC Submission

039711-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64938833-64965534 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64951819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 300 (S300R)

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: S300R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: S300R

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: S300R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411	R90Q	possibly damaging	Het
Calr3	T	C	8: 72,431,458	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666		probably null	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050		probably null	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	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
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
R5010: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'- CTGACAGTCATACCAGGACGCACG -3'
(R):5'- TCCAGAGTGAACAAACCCCACATGTA -3'

Sequencing Primer
(F):5'- GGACGCACGCTAGTTTCAATAC -3'
(R):5'- gtttataccagtttacactcttagcc -3'

Posted On

2014-05-09