Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:Klhl9'

588988

Institutional Source

Beutler Lab

Gene Symbol

Klhl9

Ensembl Gene

ENSMUSG00000070923

Gene Name

kelch-like 9

Synonyms

C530050O22Rik

MMRRC Submission

045685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88636529-88640702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88638772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 490 (T490A)

Ref Sequence

ENSEMBL: ENSMUSP00000092602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094993] [ENSMUST00000181601]

AlphaFold

Q6ZPT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094993
AA Change: T490A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: T490A

Domain	Start	End	E-Value	Type
BTB	50	149	7.21e-22	SMART
BACK	154	255	3.93e-27	SMART
low complexity region	276	287	N/A	INTRINSIC
Kelch	299	347	1.13e-2	SMART
Kelch	348	399	1.92e-5	SMART
Kelch	400	446	1.59e-11	SMART
Kelch	447	493	2.61e-7	SMART
Kelch	494	545	1.58e-6	SMART
Kelch	546	594	1.43e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181601

SMART Domains

Protein: ENSMUSP00000137773
Gene: ENSMUSG00000097078

Domain	Start	End	E-Value	Type
low complexity region	121	133	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Alms1	A	G	6: 85,655,399 (GRCm39)	N2846S	probably benign	Het
Amt	A	C	9: 108,177,077 (GRCm39)	E228D	probably damaging	Het
Ankar	T	C	1: 72,714,925 (GRCm39)	M618V	probably benign	Het
Ankrd60	T	C	2: 173,412,834 (GRCm39)		probably null	Het
Aoc1	A	G	6: 48,883,320 (GRCm39)	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,386,873 (GRCm39)	I108F	probably benign	Het
Arfgef3	G	T	10: 18,522,029 (GRCm39)	Q666K	probably damaging	Het
Bin2	T	A	15: 100,542,894 (GRCm39)	R430W	probably damaging	Het
Brme1	A	G	8: 84,893,499 (GRCm39)	Q222R	possibly damaging	Het
Cdh18	T	A	15: 23,367,056 (GRCm39)	V254D	probably damaging	Het
Cfap46	A	T	7: 139,183,155 (GRCm39)	S159R		Het
Clnk	A	T	5: 38,893,698 (GRCm39)	S220T	probably benign	Het
Col19a1	G	T	1: 24,361,165 (GRCm39)	H608Q	probably benign	Het
Cplx1	C	T	5: 108,673,395 (GRCm39)	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,577,601 (GRCm39)	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,009,872 (GRCm39)	E79G	probably benign	Het
Eif4g3	T	C	4: 137,898,429 (GRCm39)	S902P	probably damaging	Het
Emilin3	T	A	2: 160,751,199 (GRCm39)	E183D	probably benign	Het
Fam124b	G	A	1: 80,191,554 (GRCm39)		probably benign	Het
Gm9195	T	C	14: 72,690,275 (GRCm39)	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,699,819 (GRCm39)	I98F	probably damaging	Het
Il31ra	G	A	13: 112,688,514 (GRCm39)	P21L	possibly damaging	Het
Kat6a	A	G	8: 23,352,578 (GRCm39)	I121V	possibly damaging	Het
Kif11	T	C	19: 37,400,008 (GRCm39)	W832R	probably benign	Het
Lars1	G	T	18: 42,377,956 (GRCm39)	A153E	probably benign	Het
Muc5b	A	T	7: 141,421,334 (GRCm39)	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,561 (GRCm39)	C294*	probably null	Het
Nceh1	T	A	3: 27,237,366 (GRCm39)		probably null	Het
Ncf1	T	A	5: 134,256,121 (GRCm39)	T93S	probably benign	Het
Nfatc2	G	A	2: 168,376,919 (GRCm39)	R545C	probably damaging	Het
Nos1	C	T	5: 118,042,009 (GRCm39)	P545S	probably benign	Het
Ogfod3	C	A	11: 121,093,804 (GRCm39)	V69F	probably damaging	Het
Or4a27	A	T	2: 88,559,180 (GRCm39)	Y254*	probably null	Het
Phf12	A	G	11: 77,916,960 (GRCm39)	N272S	unknown	Het
Prkcz	T	A	4: 155,346,939 (GRCm39)	I581F	probably damaging	Het
Rasgrf2	T	C	13: 92,136,085 (GRCm39)	H8R		Het
Rb1cc1	T	A	1: 6,335,782 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,248,411 (GRCm39)	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,410,614 (GRCm39)		probably benign	Het
Sanbr	A	C	11: 23,534,550 (GRCm39)	C602W	possibly damaging	Het
Serinc3	A	T	2: 163,472,889 (GRCm39)	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,865,029 (GRCm39)	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,387,797 (GRCm39)		probably null	Het
Syne2	T	G	12: 75,992,108 (GRCm39)	H1993Q	probably benign	Het
Tap1	A	G	17: 34,407,212 (GRCm39)	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,127,410 (GRCm39)		probably null	Het
Ube2ql1	G	T	13: 69,887,066 (GRCm39)	Q132K	probably benign	Het
Unc13d	T	C	11: 115,957,547 (GRCm39)	N803D	probably damaging	Het
Vcan	G	A	13: 89,840,342 (GRCm39)	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,707,696 (GRCm39)	Y2630C		Het
Wdr93	A	G	7: 79,435,474 (GRCm39)	T668A	probably benign	Het

Other mutations in Klhl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Klhl9	APN	4	88,639,056 (GRCm39)	missense	probably damaging	1.00
IGL00592:Klhl9	APN	4	88,639,378 (GRCm39)	missense	probably damaging	0.99
IGL01986:Klhl9	APN	4	88,640,016 (GRCm39)	missense	probably damaging	0.99
IGL02364:Klhl9	APN	4	88,639,407 (GRCm39)	missense	probably damaging	1.00
IGL02994:Klhl9	APN	4	88,639,434 (GRCm39)	nonsense	probably null
minnow	UTSW	4	88,639,843 (GRCm39)	nonsense	probably null
R0319:Klhl9	UTSW	4	88,638,691 (GRCm39)	missense	possibly damaging	0.91
R0360:Klhl9	UTSW	4	88,638,527 (GRCm39)	missense	probably benign	0.05
R0364:Klhl9	UTSW	4	88,638,527 (GRCm39)	missense	probably benign	0.05
R0693:Klhl9	UTSW	4	88,638,527 (GRCm39)	missense	probably benign	0.05
R0961:Klhl9	UTSW	4	88,639,974 (GRCm39)	missense	probably benign	0.16
R1521:Klhl9	UTSW	4	88,640,230 (GRCm39)	missense	probably benign	0.03
R2891:Klhl9	UTSW	4	88,639,207 (GRCm39)	missense	probably benign	0.02
R3762:Klhl9	UTSW	4	88,639,830 (GRCm39)	missense	possibly damaging	0.93
R4584:Klhl9	UTSW	4	88,640,144 (GRCm39)	missense	probably damaging	1.00
R4678:Klhl9	UTSW	4	88,639,161 (GRCm39)	missense	probably damaging	1.00
R4888:Klhl9	UTSW	4	88,640,182 (GRCm39)	missense	probably benign	0.01
R5030:Klhl9	UTSW	4	88,638,771 (GRCm39)	missense	possibly damaging	0.96
R5082:Klhl9	UTSW	4	88,639,622 (GRCm39)	missense	probably damaging	0.97
R6466:Klhl9	UTSW	4	88,639,399 (GRCm39)	missense	probably benign	0.00
R7032:Klhl9	UTSW	4	88,639,843 (GRCm39)	nonsense	probably null
R7532:Klhl9	UTSW	4	88,639,090 (GRCm39)	missense	possibly damaging	0.79
R7602:Klhl9	UTSW	4	88,640,646 (GRCm39)	start gained	probably benign
R7879:Klhl9	UTSW	4	88,638,575 (GRCm39)	missense	probably damaging	1.00
R7909:Klhl9	UTSW	4	88,639,238 (GRCm39)	missense	probably benign	0.12
R8372:Klhl9	UTSW	4	88,639,596 (GRCm39)	missense	probably damaging	1.00
R8990:Klhl9	UTSW	4	88,640,205 (GRCm39)	missense	probably benign	0.00
R9024:Klhl9	UTSW	4	88,639,999 (GRCm39)	missense	probably damaging	1.00
R9619:Klhl9	UTSW	4	88,639,062 (GRCm39)	missense	probably benign	0.04
X0063:Klhl9	UTSW	4	88,640,188 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCTGGACAATTTCTACCATGCAC -3'
(R):5'- TGAACCCCACTATGGCCATG -3'

Sequencing Primer
(F):5'- CATGCACCGGTTATTCCAAG -3'
(R):5'- ACTATGGCCATGCTGGAAC -3'

Posted On

2019-10-24