Mutagenetix > Incidental Mutation

Incidental Mutation 'R5186:Uhmk1'

397858

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

042765-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R5186 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170020989-170042966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170038736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 206 (N206S)

Ref Sequence

ENSEMBL: ENSMUSP00000120787 (fasta)

Gene Model

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

AlphaFold

P97343

Predicted Effect

probably damaging
Transcript: ENSMUST00000027979
AA Change: N206S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
AA Change: N206S

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 damaging
Transcript: ENSMUST00000123399
AA Change: N206S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120787
Gene: ENSMUSG00000026667
AA Change: N206S

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 damaging
Transcript: ENSMUST00000150821
AA Change: N117S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
AA Change: N117S

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,982,425 (GRCm39)	I6V	probably null	Het
Aox1	A	G	1: 58,107,529 (GRCm39)	D601G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cacna1g	T	G	11: 94,333,674 (GRCm39)	N931T	probably damaging	Het
Ccdc14	T	C	16: 34,541,955 (GRCm39)	F511L	probably damaging	Het
Cd177	T	A	7: 24,444,348 (GRCm39)	E710V	probably benign	Het
Cep112	T	C	11: 108,643,386 (GRCm39)	C49R	probably benign	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Dnah2	T	C	11: 69,326,710 (GRCm39)	N3575S	probably damaging	Het
Dnah6	T	A	6: 73,044,410 (GRCm39)	I3234F	probably damaging	Het
Eci3	G	T	13: 35,130,961 (GRCm39)	A302E	possibly damaging	Het
Fam204a	T	C	19: 60,188,421 (GRCm39)	K214E	probably damaging	Het
Fam78a	T	C	2: 31,972,666 (GRCm39)	T85A	possibly damaging	Het
Flnb	T	C	14: 7,909,748 (GRCm38)	Y1401H	probably damaging	Het
Foxl2	A	T	9: 98,838,108 (GRCm39)	D132V	probably damaging	Het
Frs2	C	A	10: 116,914,747 (GRCm39)	W57C	probably damaging	Het
Gm26558	G	T	2: 70,491,761 (GRCm39)		probably benign	Het
Gpr139	A	G	7: 118,744,063 (GRCm39)	V174A	probably benign	Het
Grik5	T	C	7: 24,715,244 (GRCm39)	T676A	probably damaging	Het
H60c	T	C	10: 3,209,273 (GRCm39)		probably null	Het
Hspa1l	A	G	17: 35,197,445 (GRCm39)	K495E	probably damaging	Het
Irgm1	C	T	11: 48,757,044 (GRCm39)	V256I	probably benign	Het
Kat7	T	A	11: 95,177,242 (GRCm39)	T293S	probably benign	Het
Lipg	C	T	18: 75,094,009 (GRCm39)	V13I	probably benign	Het
Lrrn1	A	T	6: 107,546,185 (GRCm39)	Y661F	probably damaging	Het
Mllt3	A	G	4: 87,759,232 (GRCm39)	V272A	probably benign	Het
Mx1	G	A	16: 97,256,694 (GRCm39)	R162C	probably benign	Het
Myo18b	T	A	5: 113,019,336 (GRCm39)	D647V	probably damaging	Het
Naf1	G	A	8: 67,332,298 (GRCm39)	V329I	probably benign	Het
Or4k40	A	T	2: 111,251,119 (GRCm39)	M59K	probably damaging	Het
Or52u1	A	T	7: 104,237,418 (GRCm39)	I153F	probably damaging	Het
Or8g22	A	T	9: 38,958,265 (GRCm39)	C194*	probably null	Het
P2rx5	G	A	11: 73,062,616 (GRCm39)	V442M	possibly damaging	Het
Pcdhb9	A	G	18: 37,534,285 (GRCm39)	E93G	probably damaging	Het
Pcdhga4	A	T	18: 37,820,479 (GRCm39)	N676I	probably benign	Het
Pgm5	A	G	19: 24,797,492 (GRCm39)	M230T	probably damaging	Het
Pik3c2g	T	C	6: 139,599,016 (GRCm39)	V44A	probably damaging	Het
Pp2d1	T	C	17: 53,815,168 (GRCm39)	M519V	probably benign	Het
Ppp1r10	A	G	17: 36,239,403 (GRCm39)	E404G	probably damaging	Het
Prpf8	A	T	11: 75,380,609 (GRCm39)	E104V	possibly damaging	Het
Ptpra	T	C	2: 30,328,367 (GRCm39)		probably null	Het
Pygl	A	C	12: 70,248,118 (GRCm39)	N248K	probably damaging	Het
Rbm8a	A	G	3: 96,538,248 (GRCm39)	D102G	probably damaging	Het
Sema3d	A	G	5: 12,634,875 (GRCm39)	D647G	probably benign	Het
Serpinb11	A	T	1: 107,307,484 (GRCm39)	D305V	probably damaging	Het
Slc12a8	T	C	16: 33,437,578 (GRCm39)	I337T	probably damaging	Het
Slc29a2	G	A	19: 5,078,995 (GRCm39)	R286Q	probably benign	Het
Slc2a3	T	A	6: 122,712,542 (GRCm39)	D234V	probably damaging	Het
Slco4a1	T	C	2: 180,114,901 (GRCm39)	V608A	probably damaging	Het
Spata31d1e	A	T	13: 59,891,553 (GRCm39)	L89H	probably damaging	Het
Srrm2	C	T	17: 24,035,561 (GRCm39)	T831I	probably benign	Het
St18	T	A	1: 6,872,541 (GRCm39)		probably null	Het
Tesk2	G	C	4: 116,599,093 (GRCm39)	G67A	probably damaging	Het
Tlr1	A	T	5: 65,082,564 (GRCm39)	L671H	probably damaging	Het
Tmem63b	A	T	17: 45,972,403 (GRCm39)	Y735N	possibly damaging	Het
Tmprss11a	C	T	5: 86,567,938 (GRCm39)	C263Y	probably damaging	Het
Trio	A	T	15: 27,898,077 (GRCm39)	V345E	probably damaging	Het
Tut7	A	G	13: 59,964,470 (GRCm39)		probably null	Het
Ubr5	A	G	15: 37,998,160 (GRCm39)	S1674P	probably damaging	Het
Uchl3	T	A	14: 101,933,353 (GRCm39)	C209S	probably damaging	Het
Uhrf1	C	T	17: 56,625,340 (GRCm39)	R588W	probably damaging	Het
Usp28	T	C	9: 48,921,550 (GRCm39)	V256A	probably damaging	Het
Utrn	C	A	10: 12,604,521 (GRCm39)	L552F	probably damaging	Het
Vmn1r55	A	T	7: 5,149,985 (GRCm39)	M146K	probably damaging	Het
Vmn1r57	A	C	7: 5,224,107 (GRCm39)	I211L	probably benign	Het
Zar1	C	T	5: 72,734,742 (GRCm39)	C316Y	probably damaging	Het
Zc3h11a	A	T	1: 133,549,412 (GRCm39)	S750T	probably damaging	Het
Zfp366	G	A	13: 99,382,676 (GRCm39)	C613Y	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp516	T	C	18: 82,975,218 (GRCm39)	V472A	probably benign	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGATTAAAAGCTGCAAAGCC -3'
(R):5'- CAGTGACCTTCTGTACCACTG -3'

Sequencing Primer
(F):5'- TGATTAAAAGCTGCAAAGCCAAACTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2016-07-06