Mutagenetix > Incidental Mutation

Incidental Mutation 'R0975:Klhl28'

81089

Institutional Source

Beutler Lab

Gene Symbol

Klhl28

Ensembl Gene

ENSMUSG00000020948

Gene Name

kelch-like 28

Synonyms

Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik

MMRRC Submission

039104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R0975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64985607-65012308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64998462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 344 (R344H)

Ref Sequence

ENSEMBL: ENSMUSP00000152602 (fasta)

Gene Model

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

AlphaFold

Q9CR40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021331
AA Change: R344H

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: R344H

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

possibly damaging
Transcript: ENSMUST00000222508
AA Change: R344H

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1238

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,078,155 (GRCm39)	F690L	probably benign	Het
Ampd2	T	C	3: 107,984,437 (GRCm39)	Y464C	probably damaging	Het
Arap2	A	T	5: 62,888,229 (GRCm39)		probably benign	Het
Arhgap5	T	G	12: 52,563,927 (GRCm39)	N299K	possibly damaging	Het
Atl3	G	A	19: 7,498,500 (GRCm39)	W210*	probably null	Het
Bag1	T	C	4: 40,937,152 (GRCm39)	N320D	probably benign	Het
Ccdc39	T	C	3: 33,898,274 (GRCm39)	N24D	probably damaging	Het
Ccdc88b	G	A	19: 6,823,993 (GRCm39)	P1420L	probably damaging	Het
Cdr2	G	A	7: 120,557,614 (GRCm39)	P304S	probably benign	Het
Col20a1	A	T	2: 180,648,619 (GRCm39)	I969F	possibly damaging	Het
Coro1c	C	G	5: 114,020,182 (GRCm39)	R11P	probably damaging	Het
Cracd	T	C	5: 77,004,165 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cyp2c67	T	G	19: 39,597,622 (GRCm39)	K459Q	possibly damaging	Het
Cyp2c68	T	C	19: 39,691,802 (GRCm39)	T374A	possibly damaging	Het
Efcab6	T	A	15: 83,857,532 (GRCm39)	N289I	probably benign	Het
Elmo1	T	A	13: 20,435,307 (GRCm39)	I126N	probably damaging	Het
Esr2	C	T	12: 76,192,082 (GRCm39)	M315I	possibly damaging	Het
Fbxw14	T	A	9: 109,100,307 (GRCm39)	N449I	probably benign	Het
Frmpd1	C	T	4: 45,279,000 (GRCm39)	T575I	probably benign	Het
Gm14403	T	G	2: 177,201,217 (GRCm39)	N145K	probably damaging	Het
Gnl2	A	G	4: 124,942,171 (GRCm39)	D392G	probably damaging	Het
Hmcn1	A	C	1: 150,453,128 (GRCm39)	S5396A	probably benign	Het
Hoxd12	G	T	2: 74,506,278 (GRCm39)	R230L	probably damaging	Het
Khsrp	T	A	17: 57,334,066 (GRCm39)	D154V	possibly damaging	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Larp1b	A	G	3: 40,924,925 (GRCm39)	E134G	probably damaging	Het
Mcm9	G	A	10: 53,414,742 (GRCm39)	Q113*	probably null	Het
Mug1	A	T	6: 121,855,498 (GRCm39)	D944V	probably damaging	Het
Myh6	A	G	14: 55,190,826 (GRCm39)	S950P	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Or1n1b	C	A	2: 36,780,562 (GRCm39)	M99I	possibly damaging	Het
Or5k14	T	A	16: 58,693,513 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,829,832 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,143,907 (GRCm39)		probably null	Het
Prpf8	T	C	11: 75,399,500 (GRCm39)		probably benign	Het
Rad9b	C	T	5: 122,472,320 (GRCm39)		probably null	Het
Recql5	A	C	11: 115,814,082 (GRCm39)	D240E	probably damaging	Het
Sec31a	A	C	5: 100,543,763 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,241 (GRCm39)	V265A	probably benign	Het
Snx29	A	T	16: 11,165,735 (GRCm39)	D7V	possibly damaging	Het
Stk31	C	G	6: 49,400,343 (GRCm39)	D389E	probably damaging	Het
Tmeff2	T	C	1: 50,977,364 (GRCm39)		probably benign	Het
Tmem131	C	T	1: 36,893,966 (GRCm39)	A146T	probably damaging	Het
Tmem63c	T	A	12: 87,121,843 (GRCm39)		probably benign	Het
Tonsl	T	A	15: 76,523,132 (GRCm39)	D119V	probably damaging	Het
Trmt10a	G	A	3: 137,862,570 (GRCm39)	E287K	probably benign	Het
Vmn1r192	T	A	13: 22,371,633 (GRCm39)	M196L	probably damaging	Het
Vmn2r9	T	G	5: 108,991,169 (GRCm39)	T731P	probably damaging	Het
Wfdc6b	G	A	2: 164,455,705 (GRCm39)	M11I	probably damaging	Het
Ypel1	T	A	16: 16,925,077 (GRCm39)	T32S	probably benign	Het
Zfp827	A	G	8: 79,787,814 (GRCm39)	T327A	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
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
R4327:Klhl28	UTSW	12	64,996,952 (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'- GCCCGTCATATCCACCTAAGGCAAAA -3'
(R):5'- TCCAGAGTGAACAAACCCCACATGTA -3'

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

Posted On

2013-11-07