Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Klhl28'

734551

Institutional Source

Beutler Lab

Gene Symbol

Klhl28

Ensembl Gene

ENSMUSG00000020948

Gene Name

kelch-like 28

Synonyms

Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64985607-65012308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64996871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 490 (V490A)

Ref Sequence

ENSEMBL: ENSMUSP00000021331 (fasta)

Gene Model

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

AlphaFold

Q9CR40

Predicted Effect

probably damaging
Transcript: ENSMUST00000021331
AA Change: V490A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: V490A

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: V490A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,231,357 (GRCm39)	S1038R	probably benign	Het
Aar2	T	C	2: 156,392,745 (GRCm39)	F45L	probably damaging	Het
Abcg2	A	G	6: 58,641,533 (GRCm39)	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,243,427 (GRCm39)	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,873,373 (GRCm39)	N52S	probably benign	Het
Asrgl1	T	A	19: 9,093,974 (GRCm39)	T185S	probably damaging	Het
Astl	T	A	2: 127,192,146 (GRCm39)	S234T	probably damaging	Het
Atp5mf	T	C	5: 145,120,656 (GRCm39)	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,396,062 (GRCm39)	R264W	probably damaging	Het
Axin2	T	C	11: 108,840,180 (GRCm39)	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,153,140 (GRCm39)	D145G	possibly damaging	Het
C8b	A	T	4: 104,640,191 (GRCm39)	M165L	probably benign	Het
Cd109	T	C	9: 78,541,944 (GRCm39)	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,060,891 (GRCm39)	P232S	probably damaging	Het
Cnot1	T	C	8: 96,455,772 (GRCm39)	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,169,196 (GRCm39)	A653V	probably benign	Het
Cutc	A	G	19: 43,756,699 (GRCm39)	N264D	probably benign	Het
Cxcr4	C	T	1: 128,516,884 (GRCm39)	W259*	probably null	Het
Dnah8	T	C	17: 30,980,104 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,367,937 (GRCm39)	I652T	probably benign	Het
Dstyk	A	T	1: 132,381,859 (GRCm39)	M538L	probably benign	Het
Eppk1	T	A	15: 75,993,219 (GRCm39)	I1221F	probably benign	Het
Ern2	T	A	7: 121,769,485 (GRCm39)	Y847F	probably damaging	Het
Exosc7	T	A	9: 122,959,990 (GRCm39)	V197D	probably damaging	Het
Gabra1	T	C	11: 42,024,352 (GRCm39)	Y441C	probably damaging	Het
Garem1	G	A	18: 21,262,985 (GRCm39)	P610S	possibly damaging	Het
Garem2	T	A	5: 30,319,330 (GRCm39)	V264E	probably damaging	Het
Gata2	G	A	6: 88,177,272 (GRCm39)	G101S	probably benign	Het
Gcnt4	A	G	13: 97,083,429 (GRCm39)	T242A	probably benign	Het
Ghitm	A	C	14: 36,852,719 (GRCm39)	Y120*	probably null	Het
Gimap7	A	G	6: 48,700,470 (GRCm39)	S19G	probably damaging	Het
Gm5475	G	A	15: 100,324,881 (GRCm39)	G103E	unknown	Het
Gstcd	A	T	3: 132,790,357 (GRCm39)	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,346 (GRCm39)	D111G	probably benign	Het
Ighg2b	A	G	12: 113,270,304 (GRCm39)	I238T		Het
Il2ra	A	C	2: 11,685,161 (GRCm39)	M166L	probably benign	Het
Itga1	A	T	13: 115,171,820 (GRCm39)	L95*	probably null	Het
Itpr3	A	G	17: 27,308,915 (GRCm39)	T373A	probably benign	Het
Kntc1	A	T	5: 123,898,706 (GRCm39)	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,766,794 (GRCm39)	K167R	probably benign	Het
Lgals1	A	T	15: 78,813,930 (GRCm39)	T63S	probably benign	Het
Lnpep	C	A	17: 17,795,596 (GRCm39)	C305F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mcmbp	A	G	7: 128,311,583 (GRCm39)	I310T	possibly damaging	Het
Mical2	G	A	7: 111,945,996 (GRCm39)	R986H	probably damaging	Het
Muc5b	A	T	7: 141,415,330 (GRCm39)	S2759C	possibly damaging	Het
Myh7	A	G	14: 55,229,384 (GRCm39)	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,344,300 (GRCm39)		probably null	Het
Ndufa10	A	T	1: 92,397,610 (GRCm39)	D145E	possibly damaging	Het
Neo1	T	A	9: 58,801,307 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,701 (GRCm39)	S941T	probably benign	Het
Nrm	T	A	17: 36,172,411 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,907,227 (GRCm39)	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,716 (GRCm39)	I15V	probably benign	Het
Or10al2	T	A	17: 37,983,059 (GRCm39)	N48K	probably damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or1e1c	A	T	11: 73,265,710 (GRCm39)	N48I	probably damaging	Het
Or4b1d	T	A	2: 89,969,004 (GRCm39)	T160S	probably benign	Het
Or52e18	A	T	7: 104,609,657 (GRCm39)	I94N	probably damaging	Het
Or5m10	C	T	2: 85,717,338 (GRCm39)	H65Y	probably damaging	Het
Or5p66	A	T	7: 107,885,898 (GRCm39)	V145D	probably benign	Het
Or7g32	C	A	9: 19,389,382 (GRCm39)	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957 (GRCm39)	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,882,363 (GRCm39)	V708A	probably benign	Het
Pfn3	T	C	13: 55,562,900 (GRCm39)	D27G	possibly damaging	Het
Plch2	A	G	4: 155,095,322 (GRCm39)		probably null	Het
Plin2	C	A	4: 86,576,914 (GRCm39)	Q270H	probably damaging	Het
Polk	A	G	13: 96,630,403 (GRCm39)	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,556,778 (GRCm39)	G286E	probably damaging	Het
Prodh	A	T	16: 17,898,049 (GRCm39)	L276Q	probably damaging	Het
Ranbp10	T	C	8: 106,513,306 (GRCm39)	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,540,097 (GRCm39)	T724K	probably benign	Het
Rnf144a	T	A	12: 26,377,574 (GRCm39)	K56N	probably benign	Het
Rpa1	T	A	11: 75,203,938 (GRCm39)	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,118,340 (GRCm39)	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,724,664 (GRCm39)	I197V	probably benign	Het
Slc35d1	A	T	4: 103,071,946 (GRCm39)	F19I		Het
Sohlh2	A	T	3: 55,099,721 (GRCm39)	E164D	probably damaging	Het
Sord	A	T	2: 122,093,765 (GRCm39)	K295*	probably null	Het
Spata31d1b	A	G	13: 59,860,196 (GRCm39)	Y23C	probably benign	Het
Stard9	T	A	2: 120,510,417 (GRCm39)	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,636,753 (GRCm39)	F99L	probably damaging	Het
Thap12	C	T	7: 98,352,592 (GRCm39)		probably benign	Het
Tmprss9	A	T	10: 80,730,993 (GRCm39)	T840S	probably benign	Het
Trim16	T	A	11: 62,720,026 (GRCm39)		probably null	Het
Ttc16	C	T	2: 32,664,805 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	A	T	1: 66,651,371 (GRCm39)	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,706,060 (GRCm39)	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,464,038 (GRCm39)	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,368,084 (GRCm39)	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,524,662 (GRCm39)	E219D	probably damaging	Het
Zfp248	A	T	6: 118,406,012 (GRCm39)	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,540,558 (GRCm39)	K395E	possibly damaging	Het
Zfp423	G	A	8: 88,506,877 (GRCm39)	P1156S	probably benign	Het
Zfp644	T	C	5: 106,786,131 (GRCm39)	T139A	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TATGCTGTTAAGGTCCAAGGTGC -3'
(R):5'- TCAGGACTAGCAAGTAACAAAACTG -3'

Sequencing Primer
(F):5'- CAACTCAAGATGTGGTTCAATTGTAC -3'
(R):5'- TAGCAAGTAACAAAACTGACCTATG -3'

Posted On

2022-11-14