Mutagenetix > Incidental Mutation

Incidental Mutation 'R7602:Klhl9'

588048

Institutional Source

Beutler Lab

Gene Symbol

Klhl9

Ensembl Gene

ENSMUSG00000070923

Gene Name

kelch-like 9

Synonyms

C530050O22Rik

MMRRC Submission

045674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88636529-88640702 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 88640646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092602 (fasta)

Gene Model

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

AlphaFold

Q6ZPT1

Predicted Effect

probably benign
Transcript: ENSMUST00000094993

SMART Domains

Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923

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

silent
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: 99.2%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	T	1: 151,856,266 (GRCm39)	Y34N	probably damaging	Het
A2m	T	C	6: 121,618,966 (GRCm39)	V237A	probably damaging	Het
A2m	A	T	6: 121,647,895 (GRCm39)	D1129V	possibly damaging	Het
Aadacl2fm3	T	C	3: 59,784,697 (GRCm39)	I390T	probably benign	Het
Abca7	A	G	10: 79,833,846 (GRCm39)		probably null	Het
Adam34l	C	T	8: 44,079,703 (GRCm39)	G174R	probably damaging	Het
Ap3m2	T	C	8: 23,282,770 (GRCm39)	N256S	probably benign	Het
Atr	C	T	9: 95,789,436 (GRCm39)	H1531Y	possibly damaging	Het
Carmil3	C	T	14: 55,738,965 (GRCm39)	A873V	probably null	Het
Casp8	A	C	1: 58,872,898 (GRCm39)	K258T	probably benign	Het
Cast	A	G	13: 74,885,084 (GRCm39)	S222P	probably benign	Het
Cpsf7	C	T	19: 10,512,737 (GRCm39)	P274S	probably damaging	Het
Ddx24	A	T	12: 103,382,519 (GRCm39)	L688*	probably null	Het
Ddx59	A	G	1: 136,361,559 (GRCm39)	I475V	probably benign	Het
Dhx29	T	A	13: 113,081,093 (GRCm39)	S376T	possibly damaging	Het
Dhx57	G	T	17: 80,582,290 (GRCm39)	N438K	probably benign	Het
Dlk1	T	A	12: 109,421,551 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,091,004 (GRCm39)	M114V	probably benign	Het
Epha6	T	C	16: 59,595,931 (GRCm39)	D920G	probably damaging	Het
Exo5	A	T	4: 120,778,818 (GRCm39)	V349E	probably benign	Het
Fam234b	T	C	6: 135,202,241 (GRCm39)	V321A	possibly damaging	Het
Gbp3	A	G	3: 142,274,822 (GRCm39)	E383G	probably benign	Het
Gga2	T	C	7: 121,596,553 (GRCm39)	N408S	probably benign	Het
Gse1	T	C	8: 121,296,043 (GRCm39)	V532A	unknown	Het
Hnrnpul2	T	C	19: 8,808,673 (GRCm39)	Y712H	probably damaging	Het
Hpca	T	C	4: 129,014,019 (GRCm39)		probably benign	Het
Ifitm3	A	G	7: 140,590,372 (GRCm39)	F63L	probably damaging	Het
Inava	G	T	1: 136,153,135 (GRCm39)	C252*	probably null	Het
Kank1	A	T	19: 25,399,525 (GRCm39)	T940S	probably benign	Het
Krt36	T	C	11: 99,993,786 (GRCm39)	M351V	probably benign	Het
Mthfd2	T	C	6: 83,288,830 (GRCm39)	N125D	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Ncoa2	A	G	1: 13,247,350 (GRCm39)	S358P	possibly damaging	Het
Nmnat1	T	C	4: 149,557,808 (GRCm39)	H78R	probably benign	Het
Or10s1	T	G	9: 39,986,455 (GRCm39)	L288R	probably damaging	Het
Or5k1	T	C	16: 58,617,343 (GRCm39)	I289V	possibly damaging	Het
Or5m13b	A	T	2: 85,754,146 (GRCm39)	Y178F	probably damaging	Het
Or9r3	A	G	10: 129,948,179 (GRCm39)	M160T	probably benign	Het
Pabpc4	A	T	4: 123,186,685 (GRCm39)	D302V	possibly damaging	Het
Pgap1	A	T	1: 54,582,345 (GRCm39)	S167R	probably damaging	Het
Phf12	T	C	11: 77,914,109 (GRCm39)	L517P	probably benign	Het
Rcan2	A	G	17: 44,328,689 (GRCm39)	D86G	probably benign	Het
Ryk	T	C	9: 102,775,715 (GRCm39)	Y442H	probably damaging	Het
Scfd2	G	T	5: 74,623,271 (GRCm39)	Q421K	probably benign	Het
Sirpa	G	T	2: 129,451,072 (GRCm39)	V111F	probably damaging	Het
Skint4	A	T	4: 111,975,468 (GRCm39)	T143S	possibly damaging	Het
Slc12a8	C	A	16: 33,445,494 (GRCm39)	H463N	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Sptlc2	A	G	12: 87,388,463 (GRCm39)	Y340H	probably damaging	Het
Ssc5d	T	A	7: 4,945,745 (GRCm39)	W926R	possibly damaging	Het
Tgfa	A	G	6: 86,246,944 (GRCm39)	E82G	probably damaging	Het
Thrsp	A	G	7: 97,066,514 (GRCm39)	I66T	probably damaging	Het
Ttn	T	C	2: 76,681,988 (GRCm39)	E1003G	unknown	Het
Tube1	A	T	10: 39,018,262 (GRCm39)	H113L	probably benign	Het
Uri1	A	G	7: 37,681,053 (GRCm39)	V117A	probably benign	Het
Ush2a	G	A	1: 188,380,606 (GRCm39)	C2305Y	probably damaging	Het
Zbtb7a	T	G	10: 80,980,010 (GRCm39)	V68G	probably damaging	Het
Zfr	T	A	15: 12,159,763 (GRCm39)	D686E	possibly damaging	Het
Zscan4f	G	A	7: 11,135,308 (GRCm39)	S238N	possibly damaging	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
R7618:Klhl9	UTSW	4	88,638,772 (GRCm39)	missense	possibly damaging	0.80
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'- CTCAAATCTGCCAGGAGAGC -3'
(R):5'- ACATAATGGACCCTGCACCG -3'

Sequencing Primer
(F):5'- GCAGTTACGTGACCGCTTC -3'
(R):5'- GACCCTGCACCGGCCTC -3'

Posted On

2019-10-24