Incidental Mutation 'IGL02415:Ulk1'
| ID |
292405 |
| 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 # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110784488-110810097 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110787621 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 926
(D926G)
|
| 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 damaging
Transcript: ENSMUST00000031490
AA Change: D920G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: D920G
| 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 |
unknown
Transcript: ENSMUST00000196094
AA Change: T72A
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000199717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200099
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200299
AA Change: D926G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: D926G
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,947,991 |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,989,283 |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,706,647 |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,563,585 |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,089,408 |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,353,020 |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,050,154 |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,348,913 |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 91,863,340 |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,808,137 |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,603,897 |
V283E |
probably benign |
Het |
| F5 |
A |
G |
1: 164,191,929 |
T658A |
probably damaging |
Het |
| Fam102b |
A |
G |
3: 108,980,292 |
Y219H |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,816,440 |
Y59* |
probably null |
Het |
| Kmo |
A |
T |
1: 175,649,323 |
|
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,322,572 |
I107N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,853,285 |
M773V |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,660,956 |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 101,281,790 |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,963,961 |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,751,872 |
E646* |
probably null |
Het |
| Muc20 |
T |
A |
16: 32,794,681 |
T109S |
unknown |
Het |
| Nr2f6 |
T |
C |
8: 71,374,512 |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,382,309 |
I172T |
probably damaging |
Het |
| Olfr1434 |
A |
G |
19: 12,283,498 |
Y150C |
probably benign |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,112 |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,247,955 |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,292,815 |
H185R |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,522,759 |
Y1710C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,414,421 |
I1970T |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,643,964 |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,456,929 |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 21,971,951 |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,334,398 |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,754,239 |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,283,237 |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,193,313 |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,742,085 |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,540,240 |
|
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,352,510 |
M566L |
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,686,650 |
A99T |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,853,459 |
M1264L |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,874,074 |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,431,529 |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,970,603 |
|
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,583,771 |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 85,006,812 |
T332I |
probably damaging |
Het |
| Wdr1 |
C |
A |
5: 38,531,110 |
D161Y |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,394,557 |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,915,943 |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,381,851 |
Q91K |
possibly damaging |
Het |
|
| Other mutations in Ulk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Ulk1
|
APN |
5 |
110,787,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00916:Ulk1
|
APN |
5 |
110,793,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00951:Ulk1
|
APN |
5 |
110,792,404 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02404:Ulk1
|
APN |
5 |
110,796,234 (GRCm38) |
splice site |
probably null |
|
|
IGL02500:Ulk1
|
APN |
5 |
110,809,134 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02696:Ulk1
|
APN |
5 |
110,793,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0086:Ulk1
|
UTSW |
5 |
110,787,707 (GRCm38) |
splice site |
probably benign |
|
|
R0092:Ulk1
|
UTSW |
5 |
110,796,327 (GRCm38) |
missense |
probably null |
1.00 |
|
R0158:Ulk1
|
UTSW |
5 |
110,788,944 (GRCm38) |
splice site |
probably benign |
|
|
R0387:Ulk1
|
UTSW |
5 |
110,788,797 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0453:Ulk1
|
UTSW |
5 |
110,791,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0837:Ulk1
|
UTSW |
5 |
110,789,545 (GRCm38) |
splice site |
probably benign |
|
|
R1244:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1245:Ulk1
|
UTSW |
5 |
110,789,340 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1268:Ulk1
|
UTSW |
5 |
110,790,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1342:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1586:Ulk1
|
UTSW |
5 |
110,789,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1590:Ulk1
|
UTSW |
5 |
110,795,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1816:Ulk1
|
UTSW |
5 |
110,787,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1837:Ulk1
|
UTSW |
5 |
110,789,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1924:Ulk1
|
UTSW |
5 |
110,791,070 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1992:Ulk1
|
UTSW |
5 |
110,787,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2126:Ulk1
|
UTSW |
5 |
110,792,436 (GRCm38) |
missense |
probably benign |
0.27 |
|
R2276:Ulk1
|
UTSW |
5 |
110,788,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2310:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2311:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2312:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2760:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2762:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2763:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2764:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2859:Ulk1
|
UTSW |
5 |
110,794,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2932:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3760:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3761:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3762:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3763:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4334:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4419:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4471:Ulk1
|
UTSW |
5 |
110,789,357 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4615:Ulk1
|
UTSW |
5 |
110,789,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4776:Ulk1
|
UTSW |
5 |
110,788,947 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4820:Ulk1
|
UTSW |
5 |
110,792,130 (GRCm38) |
missense |
probably benign |
|
|
R4912:Ulk1
|
UTSW |
5 |
110,787,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6299:Ulk1
|
UTSW |
5 |
110,791,097 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6754:Ulk1
|
UTSW |
5 |
110,790,393 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7233:Ulk1
|
UTSW |
5 |
110,809,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7724:Ulk1
|
UTSW |
5 |
110,792,404 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7751:Ulk1
|
UTSW |
5 |
110,809,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Ulk1
|
UTSW |
5 |
110,798,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8379:Ulk1
|
UTSW |
5 |
110,787,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8489:Ulk1
|
UTSW |
5 |
110,799,136 (GRCm38) |
nonsense |
probably null |
|
|
R8880:Ulk1
|
UTSW |
5 |
110,786,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9214:Ulk1
|
UTSW |
5 |
110,788,797 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
X0025:Ulk1
|
UTSW |
5 |
110,792,129 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation