Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02451:Uhmk1'

293661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uhmk1

Ensembl Gene

ENSMUSG00000026667

Gene Name

U2AF homology motif (UHM) kinase 1

Synonyms

OTTMUSG00000021542, KIS, C820018A03Rik, Kist

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

170020989-170042966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170040095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000120787 (fasta)

Gene Model

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

AlphaFold

P97343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027979
AA Change: T91A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
AA Change: T91A

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

possibly damaging
Transcript: ENSMUST00000123399
AA Change: T91A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120787
Gene: ENSMUSG00000026667
AA Change: T91A

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: T2A

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
AA Change: T2A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159201

SMART Domains

Protein: ENSMUSP00000125148
Gene: ENSMUSG00000044306

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	132	N/A	INTRINSIC
low complexity region	145	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194988

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,561,809 (GRCm39)	T126P	probably damaging	Het
Asic2	T	C	11: 80,782,563 (GRCm39)		probably benign	Het
B430305J03Rik	A	G	3: 61,271,562 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,664,741 (GRCm39)	F47L	possibly damaging	Het
Bcl2l14	G	T	6: 134,400,804 (GRCm39)	G75V	probably benign	Het
Btnl4	T	C	17: 34,694,901 (GRCm39)	H4R	probably benign	Het
Champ1	C	A	8: 13,928,739 (GRCm39)	P299Q	probably damaging	Het
Cimap3	T	A	3: 105,921,820 (GRCm39)	E34D	probably benign	Het
Cldnd2	A	G	7: 43,091,082 (GRCm39)	K5E	probably benign	Het
Ctr9	T	A	7: 110,642,631 (GRCm39)	L401*	probably null	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,412,315 (GRCm39)	L298H	probably damaging	Het
Git1	T	C	11: 77,391,513 (GRCm39)	C222R	possibly damaging	Het
Gpam	T	C	19: 55,076,635 (GRCm39)	T189A	probably damaging	Het
Hgfac	T	G	5: 35,201,158 (GRCm39)		probably null	Het
Hivep3	T	A	4: 119,991,162 (GRCm39)	S2221T	probably damaging	Het
Ifi47	T	C	11: 48,986,604 (GRCm39)	Y124H	probably damaging	Het
Il1a	T	C	2: 129,148,575 (GRCm39)	E45G	probably damaging	Het
Itga11	T	A	9: 62,642,635 (GRCm39)	I186N	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Mapk13	A	G	17: 28,995,387 (GRCm39)	T203A	probably damaging	Het
Mrpl37	T	A	4: 106,923,839 (GRCm39)	I52F	probably damaging	Het
Mtrex	C	T	13: 113,027,881 (GRCm39)	V660M	probably damaging	Het
Nr1i2	A	G	16: 38,069,654 (GRCm39)	F417L	probably benign	Het
Or10ag59	T	A	2: 87,405,576 (GRCm39)	S49R	probably benign	Het
Or6c215	G	A	10: 129,637,702 (GRCm39)	Q231*	probably null	Het
Osbpl1a	T	C	18: 13,047,550 (GRCm39)		probably benign	Het
Parg	C	T	14: 31,964,186 (GRCm39)	T112M	probably damaging	Het
Pou6f1	T	C	15: 100,477,821 (GRCm39)	T166A	possibly damaging	Het
Prtg	A	G	9: 72,764,281 (GRCm39)	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,504,086 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,285,970 (GRCm39)		probably null	Het
Rnf207	C	T	4: 152,396,869 (GRCm39)	R425H	probably benign	Het
Rusf1	A	G	7: 127,875,582 (GRCm39)	L257P	probably damaging	Het
Slc27a2	A	G	2: 126,420,912 (GRCm39)	M468V	probably benign	Het
Slc30a1	A	G	1: 191,639,441 (GRCm39)	H108R	possibly damaging	Het
Sned1	A	G	1: 93,163,930 (GRCm39)		probably benign	Het
Sptbn4	A	T	7: 27,065,014 (GRCm39)	F2095Y	probably null	Het
Sspo	A	T	6: 48,437,237 (GRCm39)		probably benign	Het
Tbx19	A	G	1: 164,967,740 (GRCm39)	S336P	probably benign	Het
Tmem101	T	A	11: 102,044,119 (GRCm39)	D256V	probably damaging	Het
Trbv20	T	G	6: 41,165,210 (GRCm39)	L2V	unknown	Het
Trpc7	A	G	13: 56,970,274 (GRCm39)	S382P	probably damaging	Het
Tut4	C	A	4: 108,386,473 (GRCm39)	Y1114*	probably null	Het
Vmn2r10	T	A	5: 109,143,788 (GRCm39)	R721*	probably null	Het
Vmn2r94	T	A	17: 18,478,453 (GRCm39)	Y98F	possibly damaging	Het
Zfp532	A	G	18: 65,756,672 (GRCm39)	R202G	probably damaging	Het
Zfp827	T	C	8: 79,787,601 (GRCm39)	S256P	probably damaging	Het
Zzef1	T	C	11: 72,792,214 (GRCm39)	I2266T	probably 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
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
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

Posted On

2015-04-16