Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:Uhmk1'

505031

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

044401-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R6238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170020989-170042966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 170027563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 378 (N378I)

Ref Sequence

ENSEMBL: ENSMUSP00000027979 (fasta)

Gene Model

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

AlphaFold

P97343

Predicted Effect

probably damaging
Transcript: ENSMUST00000027979
AA Change: N378I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
AA Change: N378I

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

possibly damaging
Transcript: ENSMUST00000150821
AA Change: N289I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
AA Change: N289I

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

Meta Mutation Damage Score

0.2991

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	C	10: 76,285,096 (GRCm39)	T2P	possibly damaging	Het
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Mef2d	T	A	3: 88,066,852 (GRCm39)	L205Q	probably damaging	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Nodal	T	C	10: 61,259,258 (GRCm39)	S232P	probably damaging	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Or8b12c	A	G	9: 37,715,317 (GRCm39)	T37A	probably benign	Het
Parl	G	A	16: 20,120,963 (GRCm39)	R39C	possibly damaging	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Taf4	T	A	2: 179,573,832 (GRCm39)	I679F	probably damaging	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	possibly damaging	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
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
R9097:Uhmk1	UTSW	1	170,042,879 (GRCm39)	unclassified	probably benign
R9483:Uhmk1	UTSW	1	170,034,913 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTCCTGCATTCAGCTGTG -3'
(R):5'- AAACACCAGGCAGAATGAGTGTTC -3'

Sequencing Primer
(F):5'- TCAGCTGTGGAATATAATAATCCAAG -3'
(R):5'- CACCAGGCAGAATGAGTGTTCAAATC -3'

Posted On

2018-02-28