Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Uhmk1'

443332

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

043319-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170020989-170042966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 170038787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 100 (V100E)

Ref Sequence

ENSEMBL: ENSMUSP00000115622 (fasta)

Gene Model

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

AlphaFold

P97343

Predicted Effect

probably damaging
Transcript: ENSMUST00000027979
AA Change: V189E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
AA Change: V189E

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: V189E

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

SMART Domains

Protein: ENSMUSP00000120787
Gene: ENSMUSG00000026667
AA Change: V189E

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: V100E

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

SMART Domains

Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
AA Change: V100E

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

Meta Mutation Damage Score

0.3844

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	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
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'- TGAGATCTGACTGTATGTTTCAGC -3'
(R):5'- CAGTGACCTTCTGTACCACTG -3'

Sequencing Primer
(F):5'- AGCTTCATTCCTGAGAACATTTCCAG -3'
(R):5'- AGACAGGGTTTCTCTGTATAGCCC -3'

Posted On

2016-11-09