Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Klhl18'

628633

Institutional Source

Beutler Lab

Gene Symbol

Klhl18

Ensembl Gene

ENSMUSG00000054792

Gene Name

kelch-like 18

Synonyms

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110254994-110305762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110268076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 149 (D149G)

Gene Model

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

AlphaFold

E9Q4F2

Predicted Effect

silent
Transcript: ENSMUST00000068025

SMART Domains

Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792

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

unknown
Transcript: ENSMUST00000197336
AA Change: D149G

Predicted Effect

silent
Transcript: ENSMUST00000198164

SMART Domains

Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792

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

silent
Transcript: ENSMUST00000198400

SMART Domains

Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792

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

silent
Transcript: ENSMUST00000200256

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	probably damaging	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
R6084:Klhl18	UTSW	9	110,257,795 (GRCm39)	missense	possibly damaging	0.52
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
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'- AGTTAACTGCCTGCTCCAAATC -3'
(R):5'- AGCAGTGGATTGCAGACATG -3'

Sequencing Primer
(F):5'- TCCCCTGAGCTACGACAG -3'
(R):5'- ATTGCAGACATGGGTGGG -3'

Posted On

2020-06-01