Incidental Mutation 'R9214:Ulk1'
| ID |
699055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk1
|
| Ensembl Gene |
ENSMUSG00000029512 |
| Gene Name |
unc-51 like kinase 1 |
| Synonyms |
Unc51.1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110932354-110957963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110936663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 758
(V758E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000031490
AA Change: V752E
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: V752E
| 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 |
probably damaging
Transcript: ENSMUST00000198561
AA Change: V61E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143308
Gene: ENSMUSG00000029512
AA Change: V61E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
1 |
75 |
5e-24 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200299
AA Change: V758E
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: V758E
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,890,653 (GRCm39) |
D352G |
probably benign |
Het |
| Abi1 |
A |
T |
2: 22,831,989 (GRCm39) |
Y447* |
probably null |
Het |
| Acot1 |
A |
G |
12: 84,064,189 (GRCm39) |
Y124C |
|
Het |
| Adgrf4 |
T |
C |
17: 42,978,704 (GRCm39) |
N213S |
possibly damaging |
Het |
| Alg9 |
T |
A |
9: 50,717,545 (GRCm39) |
Y443N |
probably damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,024 (GRCm39) |
T25A |
probably benign |
Het |
| Bpifa1 |
C |
A |
2: 153,985,789 (GRCm39) |
P35T |
unknown |
Het |
| Btbd16 |
T |
C |
7: 130,381,437 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
G |
T |
2: 26,183,409 (GRCm39) |
T197K |
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,968,771 (GRCm39) |
V295A |
probably benign |
Het |
| Cdcp3 |
C |
T |
7: 130,824,481 (GRCm39) |
S192L |
possibly damaging |
Het |
| Clrn2 |
G |
T |
5: 45,617,518 (GRCm39) |
A130S |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,004,740 (GRCm39) |
T97A |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,523,273 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,286,119 (GRCm39) |
S278P |
probably benign |
Het |
| Dnah12 |
A |
C |
14: 26,445,060 (GRCm39) |
E654D |
probably benign |
Het |
| Efcab7 |
T |
C |
4: 99,735,437 (GRCm39) |
S154P |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,047,029 (GRCm39) |
F10S |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,373,756 (GRCm39) |
H672R |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,110,884 (GRCm39) |
A971S |
unknown |
Het |
| Gli2 |
A |
T |
1: 118,795,791 (GRCm39) |
H121Q |
probably damaging |
Het |
| Gm3633 |
A |
G |
14: 42,460,359 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,195,822 (GRCm39) |
L846P |
probably damaging |
Het |
| Golga7b |
A |
T |
19: 42,255,440 (GRCm39) |
I106F |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,140,280 (GRCm39) |
S460P |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,876,403 (GRCm39) |
Y92C |
probably damaging |
Het |
| Kif19b |
G |
A |
5: 140,468,257 (GRCm39) |
R649Q |
probably benign |
Het |
| Mapk1 |
T |
A |
16: 16,853,549 (GRCm39) |
C84S |
probably benign |
Het |
| Marchf10 |
A |
G |
11: 105,281,100 (GRCm39) |
V395A |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,697,763 (GRCm39) |
T7A |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,057,730 (GRCm39) |
V735D |
probably damaging |
Het |
| Mia2 |
G |
T |
12: 59,223,150 (GRCm39) |
R486L |
possibly damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,327 (GRCm39) |
L25P |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,650,901 (GRCm39) |
T1535I |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,126 (GRCm39) |
S233T |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,931,838 (GRCm39) |
S783C |
unknown |
Het |
| Nckap5 |
A |
C |
1: 125,942,376 (GRCm39) |
V1576G |
probably benign |
Het |
| Ntng1 |
T |
C |
3: 109,841,921 (GRCm39) |
Y284C |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,650,139 (GRCm39) |
V1290D |
probably damaging |
Het |
| Or52l1 |
T |
G |
7: 104,829,587 (GRCm39) |
Y326S |
probably benign |
Het |
| Pcdhgc4 |
A |
T |
18: 37,950,264 (GRCm39) |
D560V |
probably damaging |
Het |
| Pla2g1b |
A |
G |
5: 115,610,107 (GRCm39) |
K84E |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,675,750 (GRCm39) |
I359V |
probably benign |
Het |
| Prrt4 |
C |
T |
6: 29,170,767 (GRCm39) |
A562T |
possibly damaging |
Het |
| Rab6a |
T |
C |
7: 100,275,786 (GRCm39) |
F33S |
probably damaging |
Het |
| Rgs11 |
A |
G |
17: 26,427,260 (GRCm39) |
Y397C |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,111 (GRCm39) |
H277L |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,785,187 (GRCm39) |
S1842P |
possibly damaging |
Het |
| Slc25a34 |
C |
T |
4: 141,350,641 (GRCm39) |
A123T |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,556,839 (GRCm39) |
Y96C |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,194,765 (GRCm39) |
E267G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Stx6 |
T |
A |
1: 155,067,210 (GRCm39) |
N133K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,903 (GRCm39) |
T208A |
probably benign |
Het |
| Thoc5 |
A |
T |
11: 4,864,303 (GRCm39) |
Q320L |
probably benign |
Het |
| Tmc4 |
G |
C |
7: 3,670,497 (GRCm39) |
C531W |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,031 (GRCm39) |
T173A |
probably damaging |
Het |
| Tpp2 |
A |
C |
1: 44,031,514 (GRCm39) |
M1111L |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,772,941 (GRCm39) |
V206A |
probably benign |
Het |
| Vdr |
T |
A |
15: 97,767,600 (GRCm39) |
H130L |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,623,892 (GRCm39) |
T1270A |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,560,991 (GRCm39) |
D527G |
unknown |
Het |
| Zfp512 |
C |
T |
5: 31,637,434 (GRCm39) |
R508W |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,215,026 (GRCm39) |
T85A |
unknown |
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 |
|
|
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 |
|
X0025:Ulk1
|
UTSW |
5 |
110,939,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGAAATGCCATATACTCTATG -3'
(R):5'- GCTTAAGGCTGCATTTGGGAC -3'
Sequencing Primer
(F):5'- ATGGTCTATGGTCTCCTGTGTTACAC -3'
(R):5'- ATTTGGGACTCAGGCCTCTGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation