Incidental Mutation 'R1586:Ulk1'
| ID |
177502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk1
|
| Ensembl Gene |
ENSMUSG00000029512 |
| Gene Name |
unc-51 like kinase 1 |
| Synonyms |
Unc51.1 |
| MMRRC Submission |
039623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1586 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110937382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 638
(F638Y)
|
| 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: F632Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: F632Y
| 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 |
probably damaging
Transcript: ENSMUST00000200299
AA Change: F638Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: F638Y
| 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: ENSMUST00000199568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200099
|
| Meta Mutation Damage Score |
0.1046 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
93% (65/70) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,337,228 (GRCm39) |
A2361V |
probably damaging |
Het |
| Alpi |
A |
G |
1: 87,027,923 (GRCm39) |
I219T |
probably damaging |
Het |
| Anapc10 |
T |
A |
8: 80,501,772 (GRCm39) |
M180K |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,713,708 (GRCm39) |
I431V |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,815,894 (GRCm39) |
D182E |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,678,808 (GRCm39) |
I945F |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,882,570 (GRCm39) |
S1019P |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,841,448 (GRCm39) |
I258F |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,985,386 (GRCm39) |
S277P |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,493,230 (GRCm39) |
V83E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,516,477 (GRCm39) |
I373T |
possibly damaging |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,317,147 (GRCm39) |
N122S |
probably benign |
Het |
| Dmap1 |
T |
C |
4: 117,533,319 (GRCm39) |
E245G |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,045,916 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,347 (GRCm39) |
L303F |
probably damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,542,492 (GRCm39) |
D105G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,009 (GRCm39) |
L634Q |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,423 (GRCm39) |
F279L |
probably damaging |
Het |
| Guk1 |
A |
G |
11: 59,077,675 (GRCm39) |
S22P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,762,934 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,403,639 (GRCm39) |
S727T |
probably benign |
Het |
| Mki67 |
T |
A |
7: 135,315,701 (GRCm39) |
K54* |
probably null |
Het |
| Ms4a8a |
T |
C |
19: 11,053,696 (GRCm39) |
T137A |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,174,313 (GRCm39) |
Y557H |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,689,115 (GRCm39) |
K387N |
probably damaging |
Het |
| Oga |
T |
G |
19: 45,765,349 (GRCm39) |
T153P |
possibly damaging |
Het |
| Or5bb10 |
G |
T |
19: 12,206,241 (GRCm39) |
A223E |
probably damaging |
Het |
| Pde4c |
T |
A |
8: 71,199,508 (GRCm39) |
Y223N |
probably damaging |
Het |
| Psd |
T |
G |
19: 46,303,237 (GRCm39) |
E715A |
probably damaging |
Het |
| Rpl7 |
A |
T |
1: 16,172,807 (GRCm39) |
S171T |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,116,112 (GRCm39) |
*66W |
probably null |
Het |
| Scgb1b3 |
T |
A |
7: 31,075,388 (GRCm39) |
H79Q |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,199,469 (GRCm39) |
M255L |
probably benign |
Het |
| Slc35a4 |
T |
C |
18: 36,816,058 (GRCm39) |
V296A |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,722,596 (GRCm39) |
A9T |
possibly damaging |
Het |
| Snx11 |
C |
A |
11: 96,661,522 (GRCm39) |
W161L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,929,068 (GRCm39) |
K533E |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,512 (GRCm39) |
I282V |
probably benign |
Het |
| Speer4b |
A |
G |
5: 27,702,011 (GRCm39) |
S250P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,041,061 (GRCm39) |
H1287L |
probably benign |
Het |
| Surf2 |
T |
C |
2: 26,809,767 (GRCm39) |
F239S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,235,852 (GRCm39) |
|
probably null |
Het |
| Tbcd |
A |
G |
11: 121,387,886 (GRCm39) |
Q339R |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 45,994,445 (GRCm39) |
H281R |
probably benign |
Het |
| Tomm5 |
A |
G |
4: 45,107,915 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
T |
C |
17: 87,669,373 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
A |
7: 118,409,195 (GRCm39) |
I612N |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,418,109 (GRCm39) |
D277E |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,477 (GRCm39) |
R583G |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,641 (GRCm39) |
I716F |
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 |
|
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'- GCCAGGCATAACTAGACTCAGCTTC -3'
(R):5'- AGCACCGCCTCATGATTTCAGAAC -3'
Sequencing Primer
(F):5'- GAGAACAGCTCCTGAGCAGTC -3'
(R):5'- CTCATGATTTCAGAACCTGTACACG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation