Incidental Mutation 'R6754:Ulk1'
ID |
530952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ulk1
|
Ensembl Gene |
ENSMUSG00000029512 |
Gene Name |
unc-51 like kinase 1 |
Synonyms |
Unc51.1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6754 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110938259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 571
(V571E)
|
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 |
possibly damaging
Transcript: ENSMUST00000031490
AA Change: V565E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031490 Gene: ENSMUSG00000029512 AA Change: V565E
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 |
noncoding transcript
Transcript: ENSMUST00000198470
|
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 |
possibly damaging
Transcript: ENSMUST00000200299
AA Change: V571E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143536 Gene: ENSMUSG00000029512 AA Change: V571E
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: ENSMUST00000199568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199717
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,190,358 (GRCm39) |
F352L |
probably damaging |
Het |
Acta2 |
T |
C |
19: 34,222,383 (GRCm39) |
D246G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,890,488 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,909,439 (GRCm39) |
I971N |
probably damaging |
Het |
C9 |
C |
A |
15: 6,519,424 (GRCm39) |
C8* |
probably null |
Het |
Casp2 |
T |
A |
6: 42,246,264 (GRCm39) |
N207K |
probably damaging |
Het |
Cd302 |
T |
G |
2: 60,102,451 (GRCm39) |
D56A |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,539 (GRCm39) |
P605S |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,588 (GRCm39) |
V723A |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,639,160 (GRCm39) |
|
probably null |
Het |
Ctsk |
T |
C |
3: 95,409,996 (GRCm39) |
V168A |
probably damaging |
Het |
Cyp2c54 |
A |
T |
19: 40,060,004 (GRCm39) |
N176K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
F5 |
A |
G |
1: 164,021,332 (GRCm39) |
D1269G |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,005,382 (GRCm39) |
G660D |
probably benign |
Het |
Hspb3 |
A |
T |
13: 113,799,688 (GRCm39) |
I114K |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,528,719 (GRCm39) |
P43S |
probably damaging |
Het |
Itgb7 |
T |
G |
15: 102,124,595 (GRCm39) |
*807C |
probably null |
Het |
Kbtbd2 |
A |
G |
6: 56,756,239 (GRCm39) |
V499A |
probably damaging |
Het |
Lemd3 |
A |
T |
10: 120,769,565 (GRCm39) |
I589N |
probably damaging |
Het |
Mettl13 |
T |
C |
1: 162,375,692 (GRCm39) |
Y45C |
probably damaging |
Het |
Mllt6 |
C |
T |
11: 97,565,273 (GRCm39) |
T571I |
probably damaging |
Het |
Nabp1 |
A |
G |
1: 51,513,699 (GRCm39) |
I99T |
probably damaging |
Het |
Ndufa4 |
A |
G |
6: 11,906,052 (GRCm39) |
V33A |
probably benign |
Het |
Nr1h5 |
A |
G |
3: 102,856,913 (GRCm39) |
S200P |
probably damaging |
Het |
Ntsr1 |
G |
A |
2: 180,184,476 (GRCm39) |
R393H |
probably benign |
Het |
Obi1 |
C |
T |
14: 104,740,850 (GRCm39) |
E191K |
probably damaging |
Het |
Or14j4 |
T |
C |
17: 37,921,046 (GRCm39) |
N199D |
probably benign |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Pcdhb21 |
A |
T |
18: 37,647,736 (GRCm39) |
K288N |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,190,510 (GRCm39) |
N351D |
probably benign |
Het |
Polg |
T |
C |
7: 79,109,584 (GRCm39) |
E411G |
probably damaging |
Het |
Prdm11 |
A |
G |
2: 92,844,137 (GRCm39) |
L31P |
probably damaging |
Het |
Rab27b |
G |
A |
18: 70,129,174 (GRCm39) |
T40I |
probably damaging |
Het |
Ruvbl2 |
T |
C |
7: 45,078,182 (GRCm39) |
D97G |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,454,453 (GRCm39) |
Y328N |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,649,243 (GRCm39) |
V664A |
possibly damaging |
Het |
Sh2d3c |
T |
C |
2: 32,644,542 (GRCm39) |
S842P |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,315 (GRCm39) |
T89A |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,863,038 (GRCm39) |
G2187E |
probably benign |
Het |
Tff2 |
C |
A |
17: 31,363,207 (GRCm39) |
A6S |
probably benign |
Het |
Trim80 |
T |
C |
11: 115,339,000 (GRCm39) |
V610A |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,101,057 (GRCm39) |
V47A |
possibly damaging |
Het |
Ufl1 |
G |
A |
4: 25,267,796 (GRCm39) |
Q292* |
probably null |
Het |
Usp24 |
A |
T |
4: 106,217,617 (GRCm39) |
N447Y |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,993,774 (GRCm39) |
I278K |
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 |
R0086:Ulk1
|
UTSW |
5 |
110,935,573 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- AGATCCTTTCCCACCCCATAGG -3'
(R):5'- AATGATTGTCACAGAGGCCTTG -3'
Sequencing Primer
(F):5'- CTCCTAGAAGCTGTTACCTTGGTAG -3'
(R):5'- CACAGAGGCCTTGGTTGG -3'
|
Posted On |
2018-08-01 |