Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Klhl18'

482402

Institutional Source

Beutler Lab

Gene Symbol

Klhl18

Ensembl Gene

ENSMUSG00000054792

Gene Name

kelch-like 18

Synonyms

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110254994-110305762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110257795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 548 (M548I)

Ref Sequence

ENSEMBL: ENSMUSP00000143634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068025] [ENSMUST00000198164] [ENSMUST00000198400]

AlphaFold

E9Q4F2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068025
AA Change: M543I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: M543I

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	336	1.78e-14	SMART
Kelch	337	383	2.64e-17	SMART
Kelch	384	430	2.18e-18	SMART
Kelch	431	477	9.27e-13	SMART
Kelch	478	524	3.34e-5	SMART
Kelch	525	571	1.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197336

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198164
AA Change: M548I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: M548I

Domain	Start	End	E-Value	Type
BTB	38	135	1.32e-29	SMART
BACK	140	242	1.67e-39	SMART
Kelch	289	341	8.52e-12	SMART
Kelch	342	388	2.64e-17	SMART
Kelch	389	435	2.18e-18	SMART
Kelch	436	482	9.27e-13	SMART
Kelch	483	529	3.34e-5	SMART
Kelch	530	576	1.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198400
AA Change: M478I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: M478I

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	2.1e-15	PFAM
BACK	75	177	1.67e-39	SMART
Kelch	224	271	1.78e-14	SMART
Kelch	272	318	2.64e-17	SMART
Kelch	319	365	2.18e-18	SMART
Kelch	366	412	9.27e-13	SMART
Kelch	413	459	3.34e-5	SMART
Kelch	460	506	1.22e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199700

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,828,297 (GRCm39)	D958G	possibly damaging	Het
Bag4	T	C	8: 26,261,259 (GRCm39)	T161A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,374,720 (GRCm39)		probably null	Het
Cass4	G	T	2: 172,268,832 (GRCm39)	A307S	probably benign	Het
Cbln4	A	T	2: 171,884,016 (GRCm39)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,826,015 (GRCm39)	N2K	probably benign	Het
Ccnf	T	A	17: 24,450,811 (GRCm39)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,578,773 (GRCm39)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,616,812 (GRCm39)	I161V	probably benign	Het
Cfap65	A	G	1: 74,959,564 (GRCm39)	I862T	probably damaging	Het
Cfi	T	A	3: 129,652,019 (GRCm39)	L230Q	probably benign	Het
Chac2	G	A	11: 30,936,159 (GRCm39)	R30W	probably damaging	Het
Cmc2	G	A	8: 117,616,566 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm39)	M1L	probably benign	Het
Cox8a	C	A	19: 7,194,783 (GRCm39)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,435,708 (GRCm39)	N1083Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,504 (GRCm39)	D132G	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,527,212 (GRCm39)	D358G	probably benign	Het
Dysf	T	A	6: 83,996,586 (GRCm39)	F29L	probably damaging	Het
Dysf	T	C	6: 84,089,101 (GRCm39)	L888P	probably damaging	Het
Ebf4	A	G	2: 130,151,643 (GRCm39)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,668,570 (GRCm39)	L91*	probably null	Het
Foxs1	T	C	2: 152,774,762 (GRCm39)	D97G	possibly damaging	Het
Frs2	A	C	10: 116,912,714 (GRCm39)		probably null	Het
Grp	A	T	18: 66,013,008 (GRCm39)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,988,616 (GRCm39)	F537C	probably damaging	Het
Icam4	G	A	9: 20,940,835 (GRCm39)	S29N	probably benign	Het
Itfg1	T	C	8: 86,452,799 (GRCm39)	E523G	probably benign	Het
Jph2	T	C	2: 163,217,600 (GRCm39)	K359E	probably damaging	Het
Katnip	G	A	7: 125,414,037 (GRCm39)	G394R	probably benign	Het
Kcnq2	A	T	2: 180,729,449 (GRCm39)	V490E	possibly damaging	Het
Lpin3	A	G	2: 160,737,721 (GRCm39)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,396,422 (GRCm39)	N2381D	probably benign	Het
Man1a	A	T	10: 53,795,307 (GRCm39)	W649R	probably damaging	Het
Map4	T	C	9: 109,893,360 (GRCm39)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,928,284 (GRCm39)	H52L	probably damaging	Het
Mok	C	G	12: 110,781,380 (GRCm39)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,075,400 (GRCm39)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncoa4-ps	A	G	12: 119,225,386 (GRCm39)		noncoding transcript	Het
Or1j13	A	G	2: 36,369,524 (GRCm39)	V206A	probably benign	Het
Or4g7	A	T	2: 111,309,734 (GRCm39)	N202Y	probably damaging	Het
Or52z1	C	T	7: 103,437,162 (GRCm39)	M107I	probably benign	Het
Or55b4	T	C	7: 102,133,596 (GRCm39)	T244A	probably damaging	Het
Or7d11	A	T	9: 19,966,179 (GRCm39)	H75Q	possibly damaging	Het
Or7g21	A	G	9: 19,032,623 (GRCm39)	D121G	probably damaging	Het
Padi3	G	T	4: 140,523,154 (GRCm39)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,160,420 (GRCm39)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,740,726 (GRCm39)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,819,289 (GRCm39)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,393,829 (GRCm39)	C225*	probably null	Het
Prmt2	G	A	10: 76,046,278 (GRCm39)	T317I	probably benign	Het
Psg22	T	G	7: 18,453,705 (GRCm39)	N172K	probably benign	Het
Ptpn9	C	T	9: 56,940,447 (GRCm39)	R196*	probably null	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,026,622 (GRCm39)		probably null	Het
Rlf	A	T	4: 121,006,412 (GRCm39)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,616,255 (GRCm39)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm39)	E636G	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,738,838 (GRCm39)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,680,110 (GRCm39)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,224,989 (GRCm39)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,492,496 (GRCm39)	V293A	probably benign	Het
Spidr	A	T	16: 15,957,888 (GRCm39)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,298,994 (GRCm39)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,067,889 (GRCm39)	V121I	probably damaging	Het
Synj2	A	T	17: 6,088,373 (GRCm39)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,895,543 (GRCm39)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,861,164 (GRCm39)	I986F	probably benign	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,129,814 (GRCm39)	D283V	probably benign	Het
Ttn	T	A	2: 76,645,123 (GRCm39)	K673*	probably null	Het
Ubqlnl	T	A	7: 103,797,905 (GRCm39)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,832,721 (GRCm39)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,024,467 (GRCm39)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,366,205 (GRCm39)	Q243L	probably damaging	Het
Wdr24	C	A	17: 26,043,504 (GRCm39)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 73,974,672 (GRCm39)	K314*	probably null	Het

Other mutations in Klhl18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Klhl18	APN	9	110,257,754 (GRCm39)	missense	probably damaging	1.00
IGL01338:Klhl18	APN	9	110,284,501 (GRCm39)	missense	probably damaging	1.00
IGL01455:Klhl18	APN	9	110,261,511 (GRCm39)	missense	probably damaging	1.00
IGL01954:Klhl18	APN	9	110,257,934 (GRCm39)	missense	probably damaging	1.00
IGL01960:Klhl18	APN	9	110,279,814 (GRCm39)	missense	probably benign	0.25
IGL02195:Klhl18	APN	9	110,267,970 (GRCm39)	missense	possibly damaging	0.92
IGL02430:Klhl18	APN	9	110,266,469 (GRCm39)	missense	probably benign	0.25
IGL02629:Klhl18	APN	9	110,259,006 (GRCm39)	splice site	probably benign
Mixie	UTSW	9	110,265,130 (GRCm39)	missense	probably benign	0.00
R0389:Klhl18	UTSW	9	110,257,749 (GRCm39)	missense	probably benign	0.00
R1538:Klhl18	UTSW	9	110,275,815 (GRCm39)	missense	probably damaging	1.00
R1777:Klhl18	UTSW	9	110,266,469 (GRCm39)	missense	probably benign	0.25
R1966:Klhl18	UTSW	9	110,305,658 (GRCm39)	missense	probably benign	0.14
R2099:Klhl18	UTSW	9	110,284,486 (GRCm39)	missense	probably damaging	1.00
R3699:Klhl18	UTSW	9	110,265,134 (GRCm39)	missense	probably benign	0.06
R3911:Klhl18	UTSW	9	110,265,151 (GRCm39)	missense	probably damaging	1.00
R3950:Klhl18	UTSW	9	110,257,970 (GRCm39)	missense	probably damaging	1.00
R4197:Klhl18	UTSW	9	110,259,012 (GRCm39)	critical splice donor site	probably null
R4500:Klhl18	UTSW	9	110,259,034 (GRCm39)	missense	probably damaging	1.00
R4936:Klhl18	UTSW	9	110,258,029 (GRCm39)	missense	possibly damaging	0.88
R5296:Klhl18	UTSW	9	110,265,195 (GRCm39)	missense	possibly damaging	0.64
R5298:Klhl18	UTSW	9	110,265,195 (GRCm39)	missense	possibly damaging	0.64
R5301:Klhl18	UTSW	9	110,265,195 (GRCm39)	missense	possibly damaging	0.64
R5407:Klhl18	UTSW	9	110,265,195 (GRCm39)	missense	possibly damaging	0.64
R5433:Klhl18	UTSW	9	110,265,195 (GRCm39)	missense	possibly damaging	0.64
R5641:Klhl18	UTSW	9	110,275,896 (GRCm39)	missense	probably damaging	1.00
R6279:Klhl18	UTSW	9	110,265,130 (GRCm39)	missense	probably benign	0.00
R6300:Klhl18	UTSW	9	110,265,130 (GRCm39)	missense	probably benign	0.00
R6425:Klhl18	UTSW	9	110,275,749 (GRCm39)	missense	possibly damaging	0.85
R6465:Klhl18	UTSW	9	110,257,988 (GRCm39)	missense	probably benign	0.21
R6521:Klhl18	UTSW	9	110,257,703 (GRCm39)	missense	possibly damaging	0.92
R6587:Klhl18	UTSW	9	110,284,494 (GRCm39)	missense	probably damaging	1.00
R6730:Klhl18	UTSW	9	110,257,979 (GRCm39)	missense	probably damaging	0.98
R7110:Klhl18	UTSW	9	110,279,833 (GRCm39)	missense	probably damaging	0.99
R7492:Klhl18	UTSW	9	110,257,843 (GRCm39)	nonsense	probably null
R7580:Klhl18	UTSW	9	110,265,118 (GRCm39)	missense	probably benign	0.00
R7598:Klhl18	UTSW	9	110,275,878 (GRCm39)	nonsense	probably null
R7789:Klhl18	UTSW	9	110,268,076 (GRCm39)	missense	unknown
R7988:Klhl18	UTSW	9	110,305,577 (GRCm39)	missense	possibly damaging	0.87
R8050:Klhl18	UTSW	9	110,257,829 (GRCm39)	missense	probably damaging	1.00
Z1176:Klhl18	UTSW	9	110,266,415 (GRCm39)	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- AAAACTGTCCCTCTGGCAAG -3'
(R):5'- ATGATGGCTCTGGCTTCCTC -3'

Posted On

2017-07-14