Incidental Mutation 'R2039:Uhmk1'
| ID |
225377 |
| 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 |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170020989-170042966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 170039836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 88
(D88G)
|
| 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: D177G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027979
Gene: ENSMUSG00000026667
AA Change: D177G
| 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: D177G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120787
Gene: ENSMUSG00000026667
AA Change: D177G
| 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: D88G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115622
Gene: ENSMUSG00000026667
AA Change: D88G
| 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 |
0.9474 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
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 |
|
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'- AGGGAAGTACACCGTCAGTC -3'
(R):5'- AACTCCTGGATGTCAGTGTTTCG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TCGGAATTGCTTTTATATTCCAGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation