Incidental Mutation 'IGL00163:Ulk1'
| ID |
1641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110935738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 25
(A25V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031490]
[ENSMUST00000196094]
[ENSMUST00000198561]
[ENSMUST00000200299]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031490
AA Change: A863V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: A863V
| 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 damaging
Transcript: ENSMUST00000196094
AA Change: A25V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 damaging
Transcript: ENSMUST00000200299
AA Change: A869V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: A869V
| 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: ENSMUST00000199717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200099
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
G |
A |
4: 88,786,310 (GRCm39) |
Q103* |
probably null |
Het |
| 4933406P04Rik |
C |
A |
10: 20,186,970 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,343,194 (GRCm39) |
E251G |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,302 (GRCm39) |
H292R |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,498,977 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
T |
A |
5: 103,008,265 (GRCm39) |
M62K |
possibly damaging |
Het |
| Bicd1 |
A |
G |
6: 149,451,888 (GRCm39) |
H834R |
possibly damaging |
Het |
| Ccdc77 |
G |
T |
6: 120,306,045 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,818,818 (GRCm39) |
H337N |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 68,013,871 (GRCm39) |
T2424A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,946,504 (GRCm39) |
T443A |
probably benign |
Het |
| Chrna1 |
T |
A |
2: 73,400,986 (GRCm39) |
E181D |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 49,984,534 (GRCm39) |
D177N |
probably damaging |
Het |
| Eif3h |
T |
A |
15: 51,650,195 (GRCm39) |
I330F |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,697,091 (GRCm39) |
E691G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,893 (GRCm39) |
S230C |
probably benign |
Het |
| Gipc2 |
T |
C |
3: 151,843,215 (GRCm39) |
I141V |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,410 (GRCm39) |
D291V |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,292,334 (GRCm39) |
A420V |
possibly damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,952 (GRCm39) |
|
probably null |
Het |
| Minar1 |
A |
T |
9: 89,473,150 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,387,946 (GRCm39) |
Y16F |
probably benign |
Het |
| Muc4 |
G |
T |
16: 32,754,090 (GRCm38) |
R1322M |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,801,379 (GRCm39) |
I1179T |
probably benign |
Het |
| Nos1ap |
A |
G |
1: 170,342,175 (GRCm39) |
|
probably benign |
Het |
| Npc1l1 |
A |
T |
11: 6,174,199 (GRCm39) |
V702E |
probably damaging |
Het |
| Or13d1 |
G |
A |
4: 52,971,058 (GRCm39) |
V146M |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,012 (GRCm39) |
I255V |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,389,796 (GRCm39) |
R137S |
probably benign |
Het |
| Or2y10 |
A |
C |
11: 49,454,747 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
A |
T |
2: 88,291,696 (GRCm39) |
Y4F |
probably benign |
Het |
| Or4f7 |
A |
C |
2: 111,644,126 (GRCm39) |
|
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,926 (GRCm39) |
L157* |
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,281,791 (GRCm39) |
T164A |
possibly damaging |
Het |
| Ptn |
T |
C |
6: 36,720,424 (GRCm39) |
K43E |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,209,051 (GRCm39) |
V340A |
probably damaging |
Het |
| Rnf5 |
C |
T |
17: 34,821,083 (GRCm39) |
G83E |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,126,971 (GRCm39) |
Q459K |
probably benign |
Het |
| Serpina5 |
C |
A |
12: 104,071,479 (GRCm39) |
A362D |
probably damaging |
Het |
| Tex47 |
T |
A |
5: 7,355,468 (GRCm39) |
Y216* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,469,170 (GRCm39) |
H984Q |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,815,568 (GRCm39) |
V81A |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,066 (GRCm39) |
S1077R |
probably benign |
Het |
| Trgv3 |
G |
A |
13: 19,427,381 (GRCm39) |
S88N |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,153,428 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
T |
C |
7: 139,610,935 (GRCm39) |
T149A |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,895,110 (GRCm39) |
E378G |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,476,479 (GRCm39) |
N311S |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,429 (GRCm39) |
Y144H |
possibly damaging |
Het |
|
| Other mutations in Ulk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation