Incidental Mutation 'R3763:Ulk1'
| ID |
270587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk1
|
| Ensembl Gene |
ENSMUSG00000029512 |
| Gene Name |
unc-51 like kinase 1 |
| Synonyms |
Unc51.1 |
| MMRRC Submission |
040873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110937223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 691
(R691Q)
|
| 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 benign
Transcript: ENSMUST00000031490
AA Change: R685Q
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: R685Q
| 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 benign
Transcript: ENSMUST00000200299
AA Change: R691Q
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: R691Q
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
| AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
| Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
| Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
| Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
| Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
| Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
| Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
| Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
| Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
| Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
| Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
| Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
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 |
|
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'- TTCTCGAATCTCCCAAACAAGG -3'
(R):5'- AGTTTCTGAGGTCTCCCAGC -3'
Sequencing Primer
(F):5'- CCAAACAAGGAACCAGGCTGG -3'
(R):5'- AGCCCATGGGACTTTCTCAGTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation