Incidental Mutation 'R4912:Ulk1'
| ID |
379617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk1
|
| Ensembl Gene |
ENSMUSG00000029512 |
| Gene Name |
unc-51 like kinase 1 |
| Synonyms |
Unc51.1 |
| MMRRC Submission |
042514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110935455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 937
(S937T)
|
| 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: S931T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: S931T
| 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: H82Q
|
| 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: S937T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: S937T
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,505 (GRCm39) |
D52G |
possibly damaging |
Het |
| Acaa1a |
C |
A |
9: 119,171,827 (GRCm39) |
R102S |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,904,361 (GRCm39) |
R706* |
probably null |
Het |
| Best3 |
A |
G |
10: 116,844,886 (GRCm39) |
Y347C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,872,900 (GRCm39) |
D386E |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,144 (GRCm39) |
T66S |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,760,858 (GRCm39) |
D2201V |
possibly damaging |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Dffb |
T |
A |
4: 154,049,864 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
C |
14: 87,244,635 (GRCm39) |
C217W |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,927,924 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
T |
C |
1: 44,196,217 (GRCm39) |
I70T |
probably damaging |
Het |
| Fryl |
AGTGTGT |
AGTGT |
5: 73,226,125 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
C |
T |
17: 56,298,241 (GRCm39) |
P189S |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,683 (GRCm39) |
K982R |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,533,445 (GRCm39) |
I373T |
possibly damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,498 (GRCm39) |
L177P |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,767,153 (GRCm39) |
D93N |
probably damaging |
Het |
| Hbq1b |
T |
A |
11: 32,237,014 (GRCm39) |
M1K |
probably null |
Het |
| Hps3 |
C |
A |
3: 20,068,337 (GRCm39) |
L572F |
probably damaging |
Het |
| Ighj2 |
T |
A |
12: 113,393,100 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,945,207 (GRCm39) |
M490T |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,796,597 (GRCm39) |
K404* |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,836,847 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
T |
7: 27,005,541 (GRCm39) |
C1533* |
probably null |
Het |
| Mapre2 |
A |
G |
18: 23,965,990 (GRCm39) |
N25S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,087 (GRCm39) |
I43K |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,368,585 (GRCm39) |
Y495* |
probably null |
Het |
| Mrfap1 |
A |
G |
5: 36,954,089 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
G |
4: 155,925,361 (GRCm39) |
|
probably null |
Het |
| Myoz1 |
A |
T |
14: 20,699,606 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ndfip2 |
C |
T |
14: 105,496,120 (GRCm39) |
R5W |
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,164,857 (GRCm39) |
D423G |
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,837 (GRCm39) |
D859E |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 90,994,511 (GRCm39) |
A1729V |
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,895,589 (GRCm39) |
E157G |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,856,166 (GRCm39) |
H244L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,429 (GRCm39) |
S800P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,130,191 (GRCm39) |
S2707P |
probably benign |
Het |
| Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
| Rexo4 |
G |
A |
2: 26,852,404 (GRCm39) |
T200M |
possibly damaging |
Het |
| Saxo2 |
T |
A |
7: 82,283,743 (GRCm39) |
I372L |
probably benign |
Het |
| Scgb2b2 |
T |
A |
7: 31,003,056 (GRCm39) |
D50E |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,443,452 (GRCm39) |
L914P |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,413 (GRCm39) |
D656V |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,300,171 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tdrd6 |
A |
C |
17: 43,935,218 (GRCm39) |
D1943E |
probably benign |
Het |
| Tmem163 |
G |
A |
1: 127,419,362 (GRCm39) |
T281M |
probably damaging |
Het |
| Tmod3 |
A |
G |
9: 75,439,730 (GRCm39) |
V35A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,867,951 (GRCm39) |
Q448L |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,481,304 (GRCm39) |
D1711V |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Utp20 |
G |
T |
10: 88,607,822 (GRCm39) |
Q1596K |
probably benign |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,525 (GRCm39) |
I123F |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,596 (GRCm39) |
V138E |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,363 (GRCm39) |
D347G |
probably damaging |
Het |
| Vmn2r3 |
T |
G |
3: 64,166,618 (GRCm39) |
T838P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,082,896 (GRCm39) |
D1268G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,739 (GRCm39) |
H443Q |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,079,663 (GRCm39) |
V374A |
probably damaging |
Het |
| Zfp831 |
G |
T |
2: 174,486,417 (GRCm39) |
G364V |
probably damaging |
Het |
| Zfp94 |
A |
G |
7: 24,003,166 (GRCm39) |
V86A |
probably benign |
Het |
| Zkscan16 |
A |
C |
4: 58,946,506 (GRCm39) |
N127T |
possibly 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 |
|
|
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'- TAGACTTACTCTGTGCTCTGAGC -3'
(R):5'- TACCAGCTCCAGGAAAGTGTG -3'
Sequencing Primer
(F):5'- TCTGAGCATAGGGCCAGG -3'
(R):5'- TGACCAGATCAGTCAGTTGAGCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation