Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Klhl18'

551459

Institutional Source

Beutler Lab

Gene Symbol

Klhl18

Ensembl Gene

ENSMUSG00000054792

Gene Name

kelch-like 18

Synonyms

MMRRC Submission

045202-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110254994-110305762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110279833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 119 (Q119L)

Ref Sequence

ENSEMBL: ENSMUSP00000143634 (fasta)

Gene Model

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

AlphaFold

E9Q4F2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068025
AA Change: Q119L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069674
Gene: ENSMUSG00000054792
AA Change: Q119L

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 damaging
Transcript: ENSMUST00000197336
AA Change: Q117L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000198164
AA Change: Q119L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143634
Gene: ENSMUSG00000054792
AA Change: Q119L

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 damaging
Transcript: ENSMUST00000198400
AA Change: Q54L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143384
Gene: ENSMUSG00000054792
AA Change: Q54L

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

probably null
Transcript: ENSMUST00000200256

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Cog7	T	C	7: 121,534,999 (GRCm39)	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprin1	T	C	13: 54,887,056 (GRCm39)	D406G	probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Ly75	A	G	2: 60,206,528 (GRCm39)	I47T	probably benign	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Or7a42	A	T	10: 78,791,284 (GRCm39)	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Proc	A	T	18: 32,266,441 (GRCm39)	F129I	probably benign	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slc7a10	A	G	7: 34,899,009 (GRCm39)	H360R	probably benign	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	probably benign	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
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'- CAACAGTGTATGTAAATGGCCAAAC -3'
(R):5'- ATGTCAGTTCAGTTAGGACGGAG -3'

Sequencing Primer
(F):5'- AAACAGTTGGGTCCTGCAC -3'
(R):5'- AGTGACCGGTGGGCCAAG -3'

Posted On

2019-05-15