Incidental Mutation 'R6682:Uhmk1'
| ID |
527524 |
| 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 |
044801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R6682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
170020989-170042966 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 170039804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027979]
[ENSMUST00000123399]
[ENSMUST00000150821]
|
| AlphaFold |
P97343 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027979
|
| SMART Domains |
Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
| 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 null
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 |
probably null
Transcript: ENSMUST00000150821
|
| SMART Domains |
Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,385,460 (GRCm39) |
V368A |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,400 (GRCm39) |
T92A |
possibly damaging |
Het |
| Celsr2 |
A |
T |
3: 108,307,817 (GRCm39) |
|
probably null |
Het |
| Cndp2 |
T |
C |
18: 84,695,455 (GRCm39) |
K149E |
probably benign |
Het |
| Cnpy4 |
T |
C |
5: 138,185,984 (GRCm39) |
|
probably null |
Het |
| Cox6c |
A |
T |
15: 35,938,319 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,761,627 (GRCm39) |
S158R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,118 (GRCm39) |
K813R |
probably damaging |
Het |
| Dock10 |
A |
C |
1: 80,490,338 (GRCm39) |
L1927R |
probably damaging |
Het |
| Gak |
T |
A |
5: 108,746,742 (GRCm39) |
K430I |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,544,259 (GRCm39) |
Y327N |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,274,221 (GRCm39) |
T334S |
possibly damaging |
Het |
| Ldlr |
A |
G |
9: 21,643,671 (GRCm39) |
D85G |
probably benign |
Het |
| Med26 |
T |
A |
8: 73,249,927 (GRCm39) |
T391S |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,606 (GRCm39) |
T233A |
probably benign |
Het |
| Mob1a |
A |
G |
6: 83,311,132 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Mrps35 |
A |
T |
6: 146,949,777 (GRCm39) |
E97V |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,971,993 (GRCm39) |
S75T |
probably damaging |
Het |
| Myoz1 |
C |
T |
14: 20,703,687 (GRCm39) |
|
probably null |
Het |
| Nim1k |
A |
G |
13: 120,173,724 (GRCm39) |
I390T |
probably benign |
Het |
| Or10k2 |
A |
G |
8: 84,268,187 (GRCm39) |
H138R |
probably benign |
Het |
| Or4k51 |
C |
T |
2: 111,584,980 (GRCm39) |
P129S |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,893 (GRCm39) |
Q731P |
unknown |
Het |
| Prl3d3 |
G |
A |
13: 27,345,023 (GRCm39) |
E132K |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Ptpru |
T |
C |
4: 131,548,093 (GRCm39) |
M135V |
probably benign |
Het |
| Slc12a9 |
A |
T |
5: 137,325,663 (GRCm39) |
L316Q |
probably damaging |
Het |
| Slc35f6 |
G |
A |
5: 30,814,764 (GRCm39) |
M177I |
possibly damaging |
Het |
| Smc4 |
T |
A |
3: 68,914,574 (GRCm39) |
S62R |
probably damaging |
Het |
| Tmem179 |
C |
T |
12: 112,469,714 (GRCm39) |
D29N |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Trpc4ap |
C |
T |
2: 155,479,687 (GRCm39) |
|
probably null |
Het |
| Trpm8 |
C |
A |
1: 88,254,224 (GRCm39) |
T149K |
probably damaging |
Het |
| Vmn2r79 |
C |
A |
7: 86,653,370 (GRCm39) |
T545K |
possibly damaging |
Het |
| Vmn2r95 |
C |
A |
17: 18,660,489 (GRCm39) |
N300K |
probably damaging |
Het |
| Wdr41 |
G |
A |
13: 95,149,639 (GRCm39) |
G419D |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,302,130 (GRCm39) |
H597Q |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,630,253 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,444,202 (GRCm39) |
V47A |
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 |
|
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 |
|
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'- CCGTCAGTCCCTAAATTACCATTG -3'
(R):5'- CATGTGGATGATACAGCACTGTG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- ATGATACAGCACTGTGCCCGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation