Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:Klhl28'

324432

Institutional Source

Beutler Lab

Gene Symbol

Klhl28

Ensembl Gene

ENSMUSG00000020948

Gene Name

kelch-like 28

Synonyms

Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik

MMRRC Submission

041097-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64985607-65012308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64996952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 463 (A463V)

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: A463V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: A463V

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

probably damaging
Transcript: ENSMUST00000222508
AA Change: A463V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3196

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,221,664 (GRCm39)	D55G	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cela3b	G	T	4: 137,151,242 (GRCm39)	A137E	probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Serpinb3a	T	A	1: 106,979,500 (GRCm39)	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,187,562 (GRCm39)	T143K	probably benign	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	Het

Other mutations in Klhl28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Klhl28	APN	12	64,996,840 (GRCm39)	missense	probably damaging	1.00
IGL03059:Klhl28	APN	12	64,998,340 (GRCm39)	missense	probably benign	0.00
IGL03246:Klhl28	APN	12	65,004,060 (GRCm39)	missense	probably benign
R0014:Klhl28	UTSW	12	65,004,076 (GRCm39)	missense	probably benign	0.06
R0607:Klhl28	UTSW	12	64,998,529 (GRCm39)	missense	probably damaging	1.00
R0975:Klhl28	UTSW	12	64,998,462 (GRCm39)	missense	possibly damaging	0.67
R1134:Klhl28	UTSW	12	64,998,391 (GRCm39)	missense	probably benign	0.01
R1480:Klhl28	UTSW	12	65,003,995 (GRCm39)	missense	probably damaging	1.00
R1675:Klhl28	UTSW	12	64,998,593 (GRCm39)	missense	probably damaging	1.00
R2064:Klhl28	UTSW	12	64,990,246 (GRCm39)	missense	probably benign	0.05
R3832:Klhl28	UTSW	12	64,998,195 (GRCm39)	missense	probably damaging	1.00
R3896:Klhl28	UTSW	12	65,004,333 (GRCm39)	missense	probably damaging	1.00
R4612:Klhl28	UTSW	12	65,004,034 (GRCm39)	missense	probably damaging	0.99
R4817:Klhl28	UTSW	12	65,004,043 (GRCm39)	missense	probably benign	0.00
R4872:Klhl28	UTSW	12	65,003,896 (GRCm39)	missense	possibly damaging	0.94
R5007:Klhl28	UTSW	12	65,004,001 (GRCm39)	missense	probably damaging	0.98
R5008:Klhl28	UTSW	12	65,004,001 (GRCm39)	missense	probably damaging	0.98
R5010:Klhl28	UTSW	12	65,004,001 (GRCm39)	missense	probably damaging	0.98
R5068:Klhl28	UTSW	12	65,004,486 (GRCm39)	missense	probably benign	0.10
R5070:Klhl28	UTSW	12	65,004,486 (GRCm39)	missense	probably benign	0.10
R6666:Klhl28	UTSW	12	64,990,301 (GRCm39)	missense	probably benign	0.11
R7812:Klhl28	UTSW	12	64,990,363 (GRCm39)	missense	possibly damaging	0.74
R7951:Klhl28	UTSW	12	65,003,875 (GRCm39)	missense	probably damaging	1.00
R8219:Klhl28	UTSW	12	64,998,431 (GRCm39)	missense	probably benign	0.45
R8411:Klhl28	UTSW	12	64,996,864 (GRCm39)	missense	probably damaging	1.00
R8526:Klhl28	UTSW	12	64,998,400 (GRCm39)	missense	probably damaging	0.96
R9103:Klhl28	UTSW	12	64,990,300 (GRCm39)	missense	possibly damaging	0.94
R9769:Klhl28	UTSW	12	64,998,330 (GRCm39)	missense	probably benign	0.00
R9789:Klhl28	UTSW	12	64,996,871 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTATTTACATGCGCAGGCCC -3'
(R):5'- CCACAGATACCTAAACATTTGGG -3'

Sequencing Primer
(F):5'- CCCGGGATTCCCAGTATCAC -3'
(R):5'- GGGCTTTAGTTTTTCAGGAC -3'

Posted On

2015-06-24