Mutagenetix > Incidental Mutation

Incidental Mutation 'R9097:Uhmk1'

720333

Institutional Source

Beutler Lab

Gene Symbol

Uhmk1

Ensembl Gene

ENSMUSG00000026667

Gene Name

U2AF homology motif (UHM) kinase 1

Synonyms

OTTMUSG00000021542, KIS, C820018A03Rik, Kist

MMRRC Submission

068912-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R9097 (G1)

Quality Score

72.0074

Status

Validated

Chromosome

Chromosomal Location

170020989-170042966 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 170042879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027979] [ENSMUST00000123399] [ENSMUST00000150821]

AlphaFold

P97343

Predicted Effect

probably benign
Transcript: ENSMUST00000027979

SMART Domains

Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	23	298	4.1e-22	PFAM
Pfam:Pkinase	23	304	1.3e-40	PFAM
Pfam:Kdo	65	187	2.6e-7	PFAM
RRM	320	402	2.47e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123399

SMART Domains

Protein: ENSMUSP00000120787
Gene: ENSMUSG00000026667

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	23	299	1.8e-22	PFAM
Pfam:Pkinase	23	304	4.6e-43	PFAM
low complexity region	325	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150821

SMART Domains

Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	210	7e-16	PFAM
Pfam:Pkinase	2	215	1.2e-34	PFAM
RRM	231	313	2.47e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice with disruptions in this gene show accelerated development of neointima after arterial injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	G	A	14: 33,793,660 (GRCm39)	V463I	probably benign	Het
Aox1	T	A	1: 58,326,887 (GRCm39)	L162Q	possibly damaging	Het
Arhgap40	A	T	2: 158,389,584 (GRCm39)	M586L	probably benign	Het
Arnt	G	T	3: 95,397,588 (GRCm39)	S535I	probably benign	Het
Bsx	G	T	9: 40,785,636 (GRCm39)	G55C	probably damaging	Het
Ccdc168	T	C	1: 44,098,049 (GRCm39)	I1016M	possibly damaging	Het
Col9a1	A	T	1: 24,224,207 (GRCm39)	I130F	unknown	Het
Cyp51	G	T	5: 4,149,172 (GRCm39)	T235N	possibly damaging	Het
Depdc1a	T	A	3: 159,204,117 (GRCm39)	D55E	probably benign	Het
Dlc1	A	T	8: 37,080,721 (GRCm39)	I10N	probably benign	Het
Dzank1	G	T	2: 144,316,882 (GRCm39)	L767I	possibly damaging	Het
Eif3k	A	T	7: 28,671,660 (GRCm39)	*193K	probably null	Het
Eprs1	C	A	1: 185,139,303 (GRCm39)	A896E	probably benign	Het
Evc2	T	A	5: 37,550,505 (GRCm39)	F840I	possibly damaging	Het
Fut2	G	T	7: 45,300,375 (GRCm39)	H132Q	probably benign	Het
Gbp11	T	C	5: 105,474,347 (GRCm39)	*443W	probably null	Het
Gimd1	T	A	3: 132,340,661 (GRCm39)	M59K	probably benign	Het
Glis2	A	G	16: 4,429,640 (GRCm39)	T228A	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gpr162	A	G	6: 124,836,570 (GRCm39)	I367T	probably benign	Het
Grik1	G	A	16: 87,732,796 (GRCm39)	T692I		Het
Igf2r	G	T	17: 12,910,100 (GRCm39)	A2043D	probably damaging	Het
Il12b	C	A	11: 44,301,107 (GRCm39)	L208M	probably benign	Het
Il12b	T	A	11: 44,301,108 (GRCm39)	L208Q	probably damaging	Het
Lrrk2	C	T	15: 91,557,459 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,819,855 (GRCm39)	D133G	possibly damaging	Het
Mrc2	A	G	11: 105,231,398 (GRCm39)	D777G	probably damaging	Het
Mtrr	A	G	13: 68,723,441 (GRCm39)	L157P	probably benign	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,196 (GRCm39)	K292*	probably null	Het
Or51f23c-ps1	A	G	7: 102,431,475 (GRCm39)	H264R	probably damaging	Het
Or5p73	A	T	7: 108,064,815 (GRCm39)	I95F	probably damaging	Het
Or6c7	T	A	10: 129,323,647 (GRCm39)	M256K	possibly damaging	Het
Or7g22	G	A	9: 19,048,670 (GRCm39)	C127Y	probably damaging	Het
Or9g8	T	A	2: 85,607,669 (GRCm39)	V247E	probably damaging	Het
Pkn2	C	T	3: 142,515,249 (GRCm39)	R695Q	probably benign	Het
Ppp1r9a	A	G	6: 4,906,012 (GRCm39)	D189G	probably damaging	Het
Prkca	A	G	11: 107,905,061 (GRCm39)	S226P	probably benign	Het
Ptpru	T	C	4: 131,499,843 (GRCm39)	N1267S	probably damaging	Het
Retnlb	T	A	16: 48,638,980 (GRCm39)		probably benign	Het
Rrp12	A	T	19: 41,878,577 (GRCm39)	D189E	probably benign	Het
Serpinb7	G	A	1: 107,377,907 (GRCm39)	C200Y	probably damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Stk32a	A	T	18: 43,446,497 (GRCm39)	M316L	possibly damaging	Het
Supt6	G	T	11: 78,113,100 (GRCm39)	H948N	probably benign	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Tasp1	A	T	2: 139,725,690 (GRCm39)		probably null	Het
Telo2	T	C	17: 25,324,066 (GRCm39)	T550A	probably benign	Het
Tmem131l	A	T	3: 83,850,122 (GRCm39)	N225K	probably damaging	Het
Tnc	T	C	4: 63,888,622 (GRCm39)	T1724A	possibly damaging	Het
Tyk2	C	A	9: 21,020,072 (GRCm39)	E1029*	probably null	Het
Vav2	G	A	2: 27,181,850 (GRCm39)	R330W	probably damaging	Het
Vmn1r16	A	T	6: 57,300,250 (GRCm39)	I124N	probably benign	Het
Vmn1r181	A	G	7: 23,684,444 (GRCm39)	N303S	probably benign	Het
Vmn1r50	G	A	6: 90,085,022 (GRCm39)	V256I	probably benign	Het

Other mutations in Uhmk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Uhmk1	APN	1	170,034,682 (GRCm39)	critical splice donor site	probably null
IGL02451:Uhmk1	APN	1	170,040,095 (GRCm39)	missense	possibly damaging	0.89
R0452:Uhmk1	UTSW	1	170,039,971 (GRCm39)	missense	possibly damaging	0.92
R0507:Uhmk1	UTSW	1	170,034,760 (GRCm39)	missense	probably damaging	1.00
R1466:Uhmk1	UTSW	1	170,036,222 (GRCm39)	critical splice donor site	probably null
R1466:Uhmk1	UTSW	1	170,036,222 (GRCm39)	critical splice donor site	probably null
R1584:Uhmk1	UTSW	1	170,036,222 (GRCm39)	critical splice donor site	probably null
R1676:Uhmk1	UTSW	1	170,027,581 (GRCm39)	missense	probably damaging	1.00
R1806:Uhmk1	UTSW	1	170,038,628 (GRCm39)	missense	probably damaging	0.98
R2039:Uhmk1	UTSW	1	170,039,836 (GRCm39)	missense	probably damaging	1.00
R4567:Uhmk1	UTSW	1	170,032,686 (GRCm39)	nonsense	probably null
R4658:Uhmk1	UTSW	1	170,034,774 (GRCm39)	missense	probably damaging	1.00
R4765:Uhmk1	UTSW	1	170,027,470 (GRCm39)	missense	probably damaging	1.00
R5186:Uhmk1	UTSW	1	170,038,736 (GRCm39)	missense	probably damaging	1.00
R5686:Uhmk1	UTSW	1	170,038,787 (GRCm39)	missense	probably damaging	1.00
R6210:Uhmk1	UTSW	1	170,039,806 (GRCm39)	missense	probably damaging	1.00
R6238:Uhmk1	UTSW	1	170,027,563 (GRCm39)	missense	probably damaging	0.99
R6253:Uhmk1	UTSW	1	170,027,449 (GRCm39)	missense	probably damaging	1.00
R6682:Uhmk1	UTSW	1	170,039,804 (GRCm39)	critical splice donor site	probably null
R7522:Uhmk1	UTSW	1	170,042,809 (GRCm39)	start codon destroyed	probably benign	0.00
R7582:Uhmk1	UTSW	1	170,027,570 (GRCm39)	missense	probably damaging	1.00
R7916:Uhmk1	UTSW	1	170,032,757 (GRCm39)	missense	possibly damaging	0.46
R9483:Uhmk1	UTSW	1	170,034,913 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAACTGCTTGAGGGCGCC -3'
(R):5'- TCTCAGTTGTTTTGTGCTAAACA -3'

Sequencing Primer
(F):5'- TACACCGAGGCCGACGAG -3'
(R):5'- GCTAAACAATTTTCCCCCTGGAGG -3'

Posted On

2022-07-20