Mutagenetix > Incidental Mutation

Incidental Mutation 'R5082:Klhl9'

387179

Institutional Source

Beutler Lab

Gene Symbol

Klhl9

Ensembl Gene

ENSMUSG00000070923

Gene Name

kelch-like 9

Synonyms

C530050O22Rik

MMRRC Submission

042671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88636529-88640702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88639622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 206 (S206R)

Ref Sequence

ENSEMBL: ENSMUSP00000092602 (fasta)

Gene Model

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

AlphaFold

Q6ZPT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094993
AA Change: S206R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: S206R

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: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,022,694 (GRCm39)	M1015L	probably benign	Het
Aftph	T	C	11: 20,677,100 (GRCm39)	S170G	probably damaging	Het
Aox4	C	T	1: 58,270,642 (GRCm39)	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,873,541 (GRCm39)	R108Q	probably damaging	Het
Aspm	T	A	1: 139,406,414 (GRCm39)	L1767*	probably null	Het
Baz2b	T	A	2: 59,731,835 (GRCm39)	K2068*	probably null	Het
Bcl9	A	T	3: 97,117,218 (GRCm39)	V492D	probably damaging	Het
Bicc1	G	T	10: 70,776,352 (GRCm39)	H782Q	probably benign	Het
Cabin1	T	A	10: 75,574,164 (GRCm39)	I640F	probably damaging	Het
Ccng1	A	G	11: 40,643,015 (GRCm39)	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ddx1	G	T	12: 13,270,436 (GRCm39)	C668*	probably null	Het
Dhx58	G	A	11: 100,587,802 (GRCm39)	S585L	probably benign	Het
Dnttip2	A	T	3: 122,069,590 (GRCm39)	K268N	probably damaging	Het
Ecd	C	T	14: 20,374,436 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,713,473 (GRCm39)		probably null	Het
Erlin2	T	C	8: 27,523,435 (GRCm39)	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,394,424 (GRCm39)	S515G	probably benign	Het
Fcho1	T	C	8: 72,169,829 (GRCm39)	D98G	possibly damaging	Het
Fhod1	T	A	8: 106,057,145 (GRCm39)	D943V	probably damaging	Het
Gm10322	A	T	10: 59,452,090 (GRCm39)	E69V	possibly damaging	Het
Gm14295	T	A	2: 176,499,210 (GRCm39)	L19*	probably null	Het
Gm7347	T	A	5: 26,262,372 (GRCm39)	R50*	probably null	Het
Hesx1	T	C	14: 26,722,731 (GRCm39)	C19R	probably benign	Het
Hgh1	T	A	15: 76,253,752 (GRCm39)	F199L	probably benign	Het
Irak2	T	C	6: 113,649,805 (GRCm39)	F147L	probably damaging	Het
Kif22	G	A	7: 126,632,549 (GRCm39)	R254C	possibly damaging	Het
Maip1	T	C	1: 57,451,010 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,414,156 (GRCm39)	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,598,201 (GRCm39)	N369I	possibly damaging	Het
Mga	T	A	2: 119,733,825 (GRCm39)	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,842,868 (GRCm39)	W115R	probably damaging	Het
Myo3b	T	C	2: 70,088,374 (GRCm39)	V851A	probably benign	Het
Nectin2	A	T	7: 19,472,049 (GRCm39)	D113E	probably damaging	Het
Notch2	G	A	3: 98,007,690 (GRCm39)	C480Y	probably damaging	Het
Or6b6	G	A	7: 106,570,871 (GRCm39)	R227C	probably benign	Het
Or8b55	T	C	9: 38,727,441 (GRCm39)	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,537,466 (GRCm39)	N111K	probably damaging	Het
Pfkl	A	T	10: 77,832,242 (GRCm39)	V283E	probably damaging	Het
Plbd2	G	T	5: 120,629,249 (GRCm39)	S305*	probably null	Het
Prom1	T	C	5: 44,158,174 (GRCm39)		probably null	Het
Ptbp2	T	A	3: 119,546,613 (GRCm39)	M90L	probably benign	Het
Rai1	G	A	11: 60,076,745 (GRCm39)	E270K	possibly damaging	Het
Rbbp6	G	A	7: 122,599,925 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,101,075 (GRCm39)	M3399V	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,759,091 (GRCm39)	D231G	probably benign	Het
Smn1	T	C	13: 100,273,890 (GRCm39)		probably benign	Het
Snrnp200	C	T	2: 127,068,290 (GRCm39)	Q877*	probably null	Het
Taf2	G	T	15: 54,923,441 (GRCm39)	H279N	probably benign	Het
Tnfaip3	T	C	10: 18,881,032 (GRCm39)	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 84,883,076 (GRCm39)	M225I	probably benign	Het
Vps13a	A	T	19: 16,722,257 (GRCm39)	W352R	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
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
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'- TACGGCATCATTTGGTAATTGC -3'
(R):5'- CAGGCGTCTCTTTGGATAACTG -3'

Sequencing Primer
(F):5'- ACACAGGTATTGTCTGTTCTCATG -3'
(R):5'- ATAACTGTGTGGAGGTTGGCC -3'

Posted On

2016-06-06