Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Klhl18'

651602

Institutional Source

Beutler Lab

Gene Symbol

Klhl18

Ensembl Gene

ENSMUSG00000054792

Gene Name

kelch-like 18

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110425926-110476694 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110476509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 29 (E29V)

Ref Sequence

ENSEMBL: ENSMUSP00000143634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061155] [ENSMUST00000068025] [ENSMUST00000084952] [ENSMUST00000197248] [ENSMUST00000198043] [ENSMUST00000198164] [ENSMUST00000198858]

AlphaFold

E9Q4F2

Predicted Effect

probably benign
Transcript: ENSMUST00000061155

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	608	7e-19	BLAST
low complexity region	651	668	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068025
AA Change: E29V

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: E29V

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: ENSMUST00000084952

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	608	7e-19	BLAST
low complexity region	651	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197248

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	608	6e-19	BLAST
low complexity region	651	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198043

SMART Domains

Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	476	5e-14	BLAST
low complexity region	489	501	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198164
AA Change: E29V

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: E29V

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: ENSMUST00000198858

SMART Domains

Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	9	144	6.7e-7	SMART

Meta Mutation Damage Score

0.2923

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	Het

Other mutations in Klhl18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Klhl18	APN	9	110428686	missense	probably damaging	1.00
IGL01338:Klhl18	APN	9	110455433	missense	probably damaging	1.00
IGL01455:Klhl18	APN	9	110432443	missense	probably damaging	1.00
IGL01954:Klhl18	APN	9	110428866	missense	probably damaging	1.00
IGL01960:Klhl18	APN	9	110450746	missense	probably benign	0.25
IGL02195:Klhl18	APN	9	110438902	missense	possibly damaging	0.92
IGL02430:Klhl18	APN	9	110437401	missense	probably benign	0.25
IGL02629:Klhl18	APN	9	110429938	splice site	probably benign
Mixie	UTSW	9	110436062	missense	probably benign	0.00
R0389:Klhl18	UTSW	9	110428681	missense	probably benign	0.00
R1538:Klhl18	UTSW	9	110446747	missense	probably damaging	1.00
R1777:Klhl18	UTSW	9	110437401	missense	probably benign	0.25
R1966:Klhl18	UTSW	9	110476590	missense	probably benign	0.14
R2099:Klhl18	UTSW	9	110455418	missense	probably damaging	1.00
R3699:Klhl18	UTSW	9	110436066	missense	probably benign	0.06
R3911:Klhl18	UTSW	9	110436083	missense	probably damaging	1.00
R3950:Klhl18	UTSW	9	110428902	missense	probably damaging	1.00
R4197:Klhl18	UTSW	9	110429944	critical splice donor site	probably null
R4500:Klhl18	UTSW	9	110429966	missense	probably damaging	1.00
R4936:Klhl18	UTSW	9	110428961	missense	possibly damaging	0.88
R5296:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5298:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5301:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5407:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5433:Klhl18	UTSW	9	110436127	missense	possibly damaging	0.64
R5641:Klhl18	UTSW	9	110446828	missense	probably damaging	1.00
R6084:Klhl18	UTSW	9	110428727	missense	possibly damaging	0.52
R6279:Klhl18	UTSW	9	110436062	missense	probably benign	0.00
R6300:Klhl18	UTSW	9	110436062	missense	probably benign	0.00
R6425:Klhl18	UTSW	9	110446681	missense	possibly damaging	0.85
R6465:Klhl18	UTSW	9	110428920	missense	probably benign	0.21
R6521:Klhl18	UTSW	9	110428635	missense	possibly damaging	0.92
R6587:Klhl18	UTSW	9	110455426	missense	probably damaging	1.00
R6730:Klhl18	UTSW	9	110428911	missense	probably damaging	0.98
R7110:Klhl18	UTSW	9	110450765	missense	probably damaging	0.99
R7492:Klhl18	UTSW	9	110428775	nonsense	probably null
R7580:Klhl18	UTSW	9	110436050	missense	probably benign	0.00
R7598:Klhl18	UTSW	9	110446810	nonsense	probably null
R7789:Klhl18	UTSW	9	110439008	missense	unknown
R8050:Klhl18	UTSW	9	110428761	missense	probably damaging	1.00
Z1176:Klhl18	UTSW	9	110437347	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- TGAACGGCTGTCCCCTTTAC -3'
(R):5'- CGAAGCCTGAGTTTGAGTTACG -3'

Sequencing Primer
(F):5'- GGCACCGCTCTCTACTACTCTG -3'
(R):5'- AGTGAGATTCCGGCTTCGC -3'

Posted On

2020-09-15