Mutagenetix > Incidental Mutation

Incidental Mutation 'R5030:Klhl9'

391608

Institutional Source

Beutler Lab

Gene Symbol

Klhl9

Ensembl Gene

ENSMUSG00000070923

Gene Name

kelch-like 9

Synonyms

C530050O22Rik

MMRRC Submission

042621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88636529-88640702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88638771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 490 (T490K)

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: T490K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: T490K

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

0.2527

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	C	5: 26,684,783 (GRCm39)		noncoding transcript	Het
Abca15	A	T	7: 119,939,224 (GRCm39)	E206V	probably damaging	Het
Acy1	A	G	9: 106,310,596 (GRCm39)	F343L	probably benign	Het
Adam22	T	C	5: 8,229,645 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,607,948 (GRCm39)	D4041E	probably benign	Het
Akr1c14	T	C	13: 4,129,102 (GRCm39)	S166P	probably damaging	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Atm	A	T	9: 53,431,409 (GRCm39)	Y316*	probably null	Het
Atp1a1	T	C	3: 101,487,133 (GRCm39)	D892G	probably benign	Het
Auts2	A	G	5: 131,472,336 (GRCm39)	V581A	probably benign	Het
Bltp1	A	G	3: 36,997,548 (GRCm39)		probably benign	Het
Boll	T	A	1: 55,394,894 (GRCm39)	N57I	probably damaging	Het
C1s2	A	C	6: 124,612,547 (GRCm39)	V36G	possibly damaging	Het
Capza1	T	C	3: 104,748,154 (GRCm39)	Y70C	probably damaging	Het
Carnmt1	T	C	19: 18,668,950 (GRCm39)	S292P	possibly damaging	Het
Cemip2	T	G	19: 21,819,469 (GRCm39)	F1087V	probably benign	Het
Cyp2g1	T	G	7: 26,520,226 (GRCm39)	V486G	probably benign	Het
Dennd6b	T	A	15: 89,080,454 (GRCm39)	T49S	possibly damaging	Het
Dhx58	A	T	11: 100,586,963 (GRCm39)	I610N	probably damaging	Het
Elapor2	T	A	5: 9,478,502 (GRCm39)	N455K	probably damaging	Het
Fam170a	T	A	18: 50,415,021 (GRCm39)	N222K	probably benign	Het
Fbn1	A	G	2: 125,254,624 (GRCm39)	V213A	possibly damaging	Het
Frem3	A	C	8: 81,339,876 (GRCm39)	D723A	possibly damaging	Het
Fsip2	A	T	2: 82,818,836 (GRCm39)	K4856N	possibly damaging	Het
Galnt17	A	G	5: 130,905,351 (GRCm39)	V571A	probably damaging	Het
Gm6124	A	G	7: 38,872,454 (GRCm39)		noncoding transcript	Het
Gm8973	A	G	15: 98,904,136 (GRCm39)		noncoding transcript	Het
Gpd2	A	G	2: 57,194,417 (GRCm39)	T107A	probably damaging	Het
Hsd17b11	G	A	5: 104,151,158 (GRCm39)	A192V	probably damaging	Het
Igkv6-25	C	T	6: 70,192,426 (GRCm39)	Q4*	probably null	Het
Kalrn	A	G	16: 33,796,112 (GRCm39)	I1221T	probably benign	Het
Lnpep	A	G	17: 17,799,571 (GRCm39)	V28A	probably damaging	Het
Lrrc37	G	A	11: 103,425,675 (GRCm39)	P1419S	unknown	Het
Man2c1	A	G	9: 57,047,923 (GRCm39)	H843R	probably benign	Het
Map1b	T	C	13: 99,570,682 (GRCm39)	K680E	unknown	Het
Metap2	A	T	10: 93,715,539 (GRCm39)		probably null	Het
Mfsd2a	A	T	4: 122,843,949 (GRCm39)	I340N	possibly damaging	Het
Mgll	T	C	6: 88,795,647 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,691,998 (GRCm39)		probably benign	Het
Ncapd3	A	T	9: 26,983,062 (GRCm39)	I937F	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Nova1	A	G	12: 46,747,030 (GRCm39)	S416P	probably damaging	Het
Oosp3	T	C	19: 11,678,308 (GRCm39)	W95R	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t26	A	T	11: 49,039,188 (GRCm39)	M35L	probably benign	Het
Or5p76	T	A	7: 108,122,384 (GRCm39)	I258F	possibly damaging	Het
Or7e175	A	T	9: 20,049,363 (GRCm39)	K317M	probably benign	Het
Pcdha7	T	A	18: 37,108,501 (GRCm39)	S509T	probably damaging	Het
Pdgfrb	T	C	18: 61,198,207 (GRCm39)	V296A	probably benign	Het
Pdzd2	A	T	15: 12,592,494 (GRCm39)	L50*	probably null	Het
Plcl2	G	T	17: 50,914,347 (GRCm39)	R452L	possibly damaging	Het
Poldip3	A	T	15: 83,022,392 (GRCm39)	F131I	possibly damaging	Het
Pwwp3a	T	C	10: 80,076,209 (GRCm39)		probably benign	Het
Rffl	G	A	11: 82,703,543 (GRCm39)	R127*	probably null	Het
Sec24d	T	A	3: 123,152,550 (GRCm39)	V854E	probably damaging	Het
Sgo2a	T	A	1: 58,056,918 (GRCm39)	L1034*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Spaca1	A	T	4: 34,039,247 (GRCm39)	N95K	possibly damaging	Het
Spag17	C	T	3: 99,992,657 (GRCm39)	Q1718*	probably null	Het
Spdl1	C	T	11: 34,714,267 (GRCm39)	A141T	probably benign	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Supv3l1	G	T	10: 62,266,394 (GRCm39)	A594D	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tmem131	T	C	1: 36,866,255 (GRCm39)	N483S	possibly damaging	Het
Tonsl	A	T	15: 76,522,301 (GRCm39)	C231S	probably damaging	Het
Trav9n-4	T	C	14: 53,532,305 (GRCm39)	F53S	possibly damaging	Het
Trgv7	G	T	13: 19,362,558 (GRCm39)	L82F	probably damaging	Het
Trim45	T	G	3: 100,835,388 (GRCm39)	V457G	probably damaging	Het
Trpm1	T	A	7: 63,885,579 (GRCm39)	I865N	probably damaging	Het
Trpm3	C	A	19: 22,676,130 (GRCm39)	L99I	probably benign	Het
Twist1	T	A	12: 34,008,440 (GRCm39)	L155Q	probably damaging	Het
Vac14	A	G	8: 111,437,018 (GRCm39)	E577G	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,881 (GRCm39)	V209A	probably benign	Het
Xdh	C	T	17: 74,198,288 (GRCm39)	G1200R	probably damaging	Het
Zbbx	C	T	3: 74,990,990 (GRCm39)	D290N	possibly damaging	Het
Zbtb40	T	C	4: 136,725,263 (GRCm39)	T585A	probably benign	Het
Zc3h4	T	A	7: 16,156,155 (GRCm39)	D262E	unknown	Het
Zfp777	G	T	6: 48,014,601 (GRCm39)	D368E	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
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
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'- CCATGCACCGGTTATTCCAAG -3'
(R):5'- CTACGTTGCAAAGATGAGTGAAC -3'

Sequencing Primer
(F):5'- TGCACCGGTTATTCCAAGAATATCC -3'
(R):5'- GTGAACCCCACTATGGCCATG -3'

Posted On

2016-06-06