Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Uhmk1'

39651

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

038652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R0452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170020989-170042966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170039971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 132 (M132T)

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: M132T

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
AA Change: M132T

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: M132T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120787
Gene: ENSMUSG00000026667
AA Change: M132T

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: M43T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
AA Change: M43T

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

0.1217

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	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
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

Predicted Primers

PCR Primer
(F):5'- CCGTCAGTCCCTAAATTACCATTGGTT -3'
(R):5'- AGAGACAGTGCTAAGTCTGCCTAGAG -3'

Sequencing Primer
(F):5'- ttagaaacccgcctgcc -3'
(R):5'- tcactgaggcactgtattaagg -3'

Posted On

2013-05-23