Mutagenetix > Incidental Mutation

Incidental Mutation 'R8990:Klhl9'

684340

Institutional Source

Beutler Lab

Gene Symbol

Klhl9

Ensembl Gene

ENSMUSG00000070923

Gene Name

kelch-like 9

Synonyms

C530050O22Rik

MMRRC Submission

068822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88636529-88640702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88640205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 12 (V12A)

Ref Sequence

ENSEMBL: ENSMUSP00000092602 (fasta)

Gene Model

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

AlphaFold

Q6ZPT1

Predicted Effect

probably benign
Transcript: ENSMUST00000094993
AA Change: V12A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: V12A

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

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,494 (GRCm39)	V731M		Het
Ank2	A	G	3: 126,841,829 (GRCm39)		probably null	Het
Ano8	G	C	8: 71,929,201 (GRCm39)	P1004R	unknown	Het
Aopep	G	A	13: 63,304,428 (GRCm39)	C480Y	probably damaging	Het
Asnsd1	C	T	1: 53,385,901 (GRCm39)	G491D	probably damaging	Het
Atp6v1c2	A	G	12: 17,341,647 (GRCm39)	V248A	probably benign	Het
BC035947	C	T	1: 78,475,486 (GRCm39)	V349M	probably damaging	Het
Bcl2l14	A	G	6: 134,400,630 (GRCm39)	D17G	probably damaging	Het
Bltp1	T	C	3: 36,975,370 (GRCm39)	S681P	possibly damaging	Het
Cbs	T	C	17: 31,834,523 (GRCm39)	T489A	probably benign	Het
Ccdc66	T	C	14: 27,208,655 (GRCm39)	K533R	probably benign	Het
Cenpx	A	G	11: 120,602,591 (GRCm39)	F53S	unknown	Het
Col4a4	A	G	1: 82,473,555 (GRCm39)	S657P	unknown	Het
Csnk2a1	A	G	2: 152,096,177 (GRCm39)	Y50C	probably damaging	Het
Ddx60	C	T	8: 62,427,168 (GRCm39)	R748*	probably null	Het
Diaph1	A	T	18: 37,988,857 (GRCm39)	L959H	probably damaging	Het
Dnaaf5	T	G	5: 139,155,951 (GRCm39)	L544R	probably damaging	Het
Dnah10	A	G	5: 124,814,057 (GRCm39)	D399G		Het
Eif2b4	T	C	5: 31,347,971 (GRCm39)	E247G	probably benign	Het
Fmnl2	T	C	2: 53,016,971 (GRCm39)	I1050T	unknown	Het
Gm10272	T	A	10: 77,542,658 (GRCm39)	S67T	probably damaging	Het
Gm32742	G	A	9: 51,058,802 (GRCm39)	P1072S	probably damaging	Het
Hdac11	T	A	6: 91,145,799 (GRCm39)	L151*	probably null	Het
Iars1	A	G	13: 49,841,752 (GRCm39)	D80G	possibly damaging	Het
Kazn	T	C	4: 141,868,947 (GRCm39)	D413G	probably damaging	Het
Kcnc1	T	A	7: 46,077,733 (GRCm39)	*512R	probably null	Het
Kcnf1	G	A	12: 17,225,336 (GRCm39)	T295I	probably benign	Het
Klk6	T	A	7: 43,476,254 (GRCm39)	H31Q	probably benign	Het
Ldhal6b	A	T	17: 5,468,020 (GRCm39)	S305T	probably damaging	Het
Lta4h	C	A	10: 93,314,315 (GRCm39)	D462E	probably damaging	Het
Ly75	T	G	2: 60,188,903 (GRCm39)	R274S	probably benign	Het
Mideas	T	C	12: 84,218,380 (GRCm39)	T527A	probably benign	Het
Mn1	A	G	5: 111,566,381 (GRCm39)	N117S	possibly damaging	Het
Mrgprd	T	C	7: 144,875,915 (GRCm39)	V262A	probably benign	Het
Mtres1	A	G	10: 43,401,233 (GRCm39)	S239P	unknown	Het
Muc4	C	A	16: 32,574,009 (GRCm39)	H696N	probably benign	Het
Nlrp3	A	T	11: 59,439,584 (GRCm39)	Q387L	probably damaging	Het
Nme7	A	G	1: 164,155,902 (GRCm39)	D34G	probably damaging	Het
Ntrk2	T	A	13: 59,007,988 (GRCm39)	L250*	probably null	Het
Or13p8	T	C	4: 118,584,224 (GRCm39)	V260A	probably benign	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pcdh7	A	G	5: 57,879,364 (GRCm39)	D973G	probably benign	Het
Pced1a	A	G	2: 130,264,471 (GRCm39)	Y120H	probably damaging	Het
Pira13	T	A	7: 3,824,273 (GRCm39)	T627S	unknown	Het
Pkhd1	A	G	1: 20,417,529 (GRCm39)	S2541P	probably benign	Het
Ptcd1	A	G	5: 145,102,047 (GRCm39)	S91P	probably damaging	Het
R3hdm1	C	T	1: 128,106,833 (GRCm39)	R229C	probably damaging	Het
Sectm1a	G	T	11: 120,960,701 (GRCm39)	T38K	probably damaging	Het
Serpinb2	A	T	1: 107,450,428 (GRCm39)	I142F	probably damaging	Het
Slc25a39	A	T	11: 102,295,895 (GRCm39)	V112E	possibly damaging	Het
Snap23	G	T	2: 120,415,516 (GRCm39)		probably benign	Het
Sp8	T	A	12: 118,813,122 (GRCm39)	Y326N	possibly damaging	Het
Speer4c2	G	A	5: 15,858,598 (GRCm39)	R141C	probably benign	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Trpc2	T	C	7: 101,745,195 (GRCm39)	Y804H	probably benign	Het
Trpc7	T	C	13: 56,952,485 (GRCm39)	N562S	possibly damaging	Het
Trpm6	G	A	19: 18,792,799 (GRCm39)	G741E	probably damaging	Het
Vmn1r160	T	A	7: 22,570,759 (GRCm39)	H37Q	probably damaging	Het
Vmn1r174	G	T	7: 23,453,956 (GRCm39)	M207I	possibly damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably 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
R7602:Klhl9	UTSW	4	88,640,646 (GRCm39)	start gained	probably benign
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
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'- TGAAATAATCACTGGCAGACGC -3'
(R):5'- TCCTGGCAGATTTGAGGTGC -3'

Sequencing Primer
(F):5'- CCATCATGGCTCTATGAACCGG -3'
(R):5'- CAGATTTGAGGTGCGTGCTGC -3'

Posted On

2021-10-11