Incidental Mutation 'R0086:Ulk1'
ID |
19889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ulk1
|
Ensembl Gene |
ENSMUSG00000029512 |
Gene Name |
unc-51 like kinase 1 |
Synonyms |
Unc51.1 |
MMRRC Submission |
038373-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 110935573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031490]
[ENSMUST00000196094]
[ENSMUST00000198561]
[ENSMUST00000200299]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031490
|
SMART Domains |
Protein: ENSMUSP00000031490 Gene: ENSMUSG00000029512
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
278 |
3.6e-98 |
SMART |
low complexity region
|
287 |
318 |
N/A |
INTRINSIC |
low complexity region
|
340 |
356 |
N/A |
INTRINSIC |
low complexity region
|
400 |
423 |
N/A |
INTRINSIC |
Blast:S_TKc
|
459 |
837 |
1e-131 |
BLAST |
Pfam:DUF3543
|
838 |
1048 |
1.8e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196440
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198561
|
SMART Domains |
Protein: ENSMUSP00000143308 Gene: ENSMUSG00000029512
Domain | Start | End | E-Value | Type |
Blast:S_TKc
|
1 |
75 |
5e-24 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200299
|
SMART Domains |
Protein: ENSMUSP00000143536 Gene: ENSMUSG00000029512
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
278 |
7.47e-96 |
SMART |
low complexity region
|
287 |
318 |
N/A |
INTRINSIC |
low complexity region
|
340 |
356 |
N/A |
INTRINSIC |
low complexity region
|
400 |
423 |
N/A |
INTRINSIC |
Blast:S_TKc
|
459 |
843 |
1e-129 |
BLAST |
Pfam:DUF3543
|
844 |
1054 |
1.4e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199717
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.6%
- 20x: 86.6%
|
Validation Efficiency |
96% (91/95) |
MGI Phenotype |
PHENOTYPE: Null homozygotes have blood defects including an increase in mean corpuscular volume and the presence of red blood cells that contain mitochondria. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,946,802 (GRCm39) |
V233D |
probably benign |
Het |
Abcg8 |
T |
C |
17: 85,000,199 (GRCm39) |
V252A |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,279,397 (GRCm39) |
T596I |
possibly damaging |
Het |
Agap2 |
C |
A |
10: 126,923,751 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
T |
G |
3: 103,722,176 (GRCm39) |
V50G |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,250,424 (GRCm39) |
I381N |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,900,161 (GRCm39) |
V1113A |
possibly damaging |
Het |
C1galt1 |
T |
A |
6: 7,867,051 (GRCm39) |
|
probably benign |
Het |
Capza2 |
A |
G |
6: 17,660,773 (GRCm39) |
K158E |
probably damaging |
Het |
Cenpe |
C |
T |
3: 134,970,185 (GRCm39) |
|
probably benign |
Het |
Cercam |
T |
C |
2: 29,761,076 (GRCm39) |
L42P |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,864,456 (GRCm39) |
E807G |
possibly damaging |
Het |
Cog6 |
A |
G |
3: 52,900,991 (GRCm39) |
V157A |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,344,271 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,499,357 (GRCm39) |
I15F |
unknown |
Het |
Dock7 |
A |
T |
4: 98,833,381 (GRCm39) |
V1970D |
probably damaging |
Het |
Exph5 |
A |
G |
9: 53,249,230 (GRCm39) |
D73G |
possibly damaging |
Het |
Gjc2 |
A |
T |
11: 59,067,672 (GRCm39) |
M270K |
probably benign |
Het |
Gns |
G |
A |
10: 121,227,378 (GRCm39) |
D463N |
probably damaging |
Het |
Hoxd8 |
G |
T |
2: 74,536,276 (GRCm39) |
G129W |
probably damaging |
Het |
Ina |
A |
G |
19: 47,012,030 (GRCm39) |
T483A |
possibly damaging |
Het |
Lmod3 |
T |
A |
6: 97,224,306 (GRCm39) |
Q505L |
probably damaging |
Het |
Map3k13 |
A |
G |
16: 21,732,975 (GRCm39) |
N526D |
probably damaging |
Het |
Map3k2 |
A |
T |
18: 32,351,521 (GRCm39) |
I435F |
probably damaging |
Het |
Mfsd6l |
A |
G |
11: 68,447,391 (GRCm39) |
T81A |
probably benign |
Het |
Micall1 |
T |
C |
15: 79,009,689 (GRCm39) |
|
probably benign |
Het |
Mkrn2 |
G |
T |
6: 115,590,296 (GRCm39) |
M217I |
possibly damaging |
Het |
Mtrex |
G |
T |
13: 113,063,862 (GRCm39) |
F10L |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,834,086 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
G |
A |
7: 26,257,972 (GRCm39) |
C530Y |
probably damaging |
Het |
Numb |
T |
C |
12: 83,842,704 (GRCm39) |
T442A |
probably damaging |
Het |
Oip5 |
C |
T |
2: 119,448,410 (GRCm39) |
|
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,417,462 (GRCm39) |
I13F |
possibly damaging |
Het |
Or4c119 |
C |
T |
2: 88,986,820 (GRCm39) |
R233H |
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,261 (GRCm39) |
I216T |
probably benign |
Het |
Or8g22 |
T |
C |
9: 38,958,191 (GRCm39) |
T175A |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,038,832 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,419,404 (GRCm39) |
N2956K |
possibly damaging |
Het |
Plcl1 |
T |
A |
1: 55,754,742 (GRCm39) |
W1030R |
probably damaging |
Het |
Polr2i |
G |
A |
7: 29,932,511 (GRCm39) |
V73M |
probably damaging |
Het |
Prr14l |
T |
A |
5: 32,988,903 (GRCm39) |
|
probably benign |
Het |
Pxdn |
G |
T |
12: 30,052,418 (GRCm39) |
R865L |
possibly damaging |
Het |
Scnn1a |
T |
C |
6: 125,319,550 (GRCm39) |
|
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,051,451 (GRCm39) |
H203N |
probably benign |
Het |
Slc22a14 |
C |
T |
9: 119,051,804 (GRCm39) |
|
probably benign |
Het |
Snap29 |
C |
A |
16: 17,246,100 (GRCm39) |
T240K |
probably damaging |
Het |
Sp2 |
C |
A |
11: 96,848,253 (GRCm39) |
G457C |
probably damaging |
Het |
Ssr2 |
C |
T |
3: 88,484,187 (GRCm39) |
|
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,910,753 (GRCm39) |
C297* |
probably null |
Het |
Tpm3 |
T |
A |
3: 89,997,399 (GRCm39) |
|
probably benign |
Het |
Trmt6 |
CTG |
C |
2: 132,650,937 (GRCm39) |
|
probably benign |
Het |
Trp63 |
T |
C |
16: 25,689,837 (GRCm39) |
Y431H |
probably damaging |
Het |
Tuba3b |
T |
A |
6: 145,566,886 (GRCm39) |
C376S |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,249,557 (GRCm39) |
S1425P |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,191,433 (GRCm39) |
I1335V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,058 (GRCm39) |
Y352H |
probably damaging |
Het |
|
Other mutations in Ulk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Ulk1
|
APN |
5 |
110,935,738 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00916:Ulk1
|
APN |
5 |
110,940,877 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00951:Ulk1
|
APN |
5 |
110,940,270 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02404:Ulk1
|
APN |
5 |
110,944,100 (GRCm39) |
splice site |
probably null |
|
IGL02415:Ulk1
|
APN |
5 |
110,935,487 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02500:Ulk1
|
APN |
5 |
110,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02696:Ulk1
|
APN |
5 |
110,940,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Ulk1
|
UTSW |
5 |
110,944,193 (GRCm39) |
missense |
probably null |
1.00 |
R0158:Ulk1
|
UTSW |
5 |
110,936,810 (GRCm39) |
splice site |
probably benign |
|
R0387:Ulk1
|
UTSW |
5 |
110,936,663 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0453:Ulk1
|
UTSW |
5 |
110,938,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R0837:Ulk1
|
UTSW |
5 |
110,937,411 (GRCm39) |
splice site |
probably benign |
|
R1244:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R1245:Ulk1
|
UTSW |
5 |
110,937,206 (GRCm39) |
critical splice donor site |
probably null |
|
R1268:Ulk1
|
UTSW |
5 |
110,938,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R1342:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R1586:Ulk1
|
UTSW |
5 |
110,937,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R1590:Ulk1
|
UTSW |
5 |
110,943,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Ulk1
|
UTSW |
5 |
110,935,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Ulk1
|
UTSW |
5 |
110,937,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1924:Ulk1
|
UTSW |
5 |
110,938,936 (GRCm39) |
missense |
probably damaging |
0.97 |
R1992:Ulk1
|
UTSW |
5 |
110,935,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2126:Ulk1
|
UTSW |
5 |
110,940,302 (GRCm39) |
missense |
probably benign |
0.27 |
R2276:Ulk1
|
UTSW |
5 |
110,936,028 (GRCm39) |
missense |
probably benign |
0.00 |
R2310:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2311:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2312:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2760:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2762:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2763:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2764:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R2859:Ulk1
|
UTSW |
5 |
110,942,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R2932:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R3760:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R3761:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R3762:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R3763:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R4334:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R4419:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R4471:Ulk1
|
UTSW |
5 |
110,937,223 (GRCm39) |
missense |
probably benign |
0.03 |
R4615:Ulk1
|
UTSW |
5 |
110,936,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R4776:Ulk1
|
UTSW |
5 |
110,936,813 (GRCm39) |
critical splice donor site |
probably null |
|
R4820:Ulk1
|
UTSW |
5 |
110,939,996 (GRCm39) |
missense |
probably benign |
|
R4912:Ulk1
|
UTSW |
5 |
110,935,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Ulk1
|
UTSW |
5 |
110,938,963 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6754:Ulk1
|
UTSW |
5 |
110,938,259 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7233:Ulk1
|
UTSW |
5 |
110,956,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7724:Ulk1
|
UTSW |
5 |
110,940,270 (GRCm39) |
missense |
probably benign |
0.44 |
R7751:Ulk1
|
UTSW |
5 |
110,957,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Ulk1
|
UTSW |
5 |
110,946,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R8379:Ulk1
|
UTSW |
5 |
110,935,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R8489:Ulk1
|
UTSW |
5 |
110,947,002 (GRCm39) |
nonsense |
probably null |
|
R8880:Ulk1
|
UTSW |
5 |
110,934,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Ulk1
|
UTSW |
5 |
110,936,663 (GRCm39) |
missense |
possibly damaging |
0.82 |
X0025:Ulk1
|
UTSW |
5 |
110,939,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCAACTCAGCAGTAGTCTGCTC -3'
(R):5'- CACTAGCGTTTGCACAGCAAGTTC -3'
Sequencing Primer
(F):5'- GTAGTCTGCTCCCTGACATGG -3'
(R):5'- CAAGTTCTGGAGATTGCAGCC -3'
|
Posted On |
2013-04-11 |