Incidental Mutation 'R9197:Ufl1'
| ID |
697976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufl1
|
| Ensembl Gene |
ENSMUSG00000040359 |
| Gene Name |
UFM1 specific ligase 1 |
| Synonyms |
Rcad, 1810074P20Rik, Maxer |
| MMRRC Submission |
068956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R9197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
25248600-25281821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25250519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 778
(I778T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038705]
[ENSMUST00000102994]
|
| AlphaFold |
Q8CCJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038705
AA Change: I698T
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: I698T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2042
|
2 |
205 |
1.5e-70 |
PFAM |
|
low complexity region
|
334 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102994
AA Change: I778T
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: I778T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2042
|
7 |
284 |
4.8e-117 |
PFAM |
|
low complexity region
|
414 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0982 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogensis, anemia and decreased erythroid progenitor cell number. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Brd2 |
T |
C |
17: 34,333,370 (GRCm39) |
Y427C |
probably damaging |
Het |
| Btbd1 |
T |
A |
7: 81,443,363 (GRCm39) |
T474S |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,950 (GRCm39) |
T1524A |
|
Het |
| Capn9 |
T |
A |
8: 125,340,600 (GRCm39) |
V588D |
probably damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,732 (GRCm39) |
S356P |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,280,536 (GRCm39) |
I2820F |
unknown |
Het |
| Cyfip1 |
C |
T |
7: 55,554,222 (GRCm39) |
H754Y |
probably null |
Het |
| Dolk |
A |
G |
2: 30,174,693 (GRCm39) |
S451P |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,892,682 (GRCm39) |
A829T |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,284 (GRCm39) |
I308V |
possibly damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,489 (GRCm39) |
N285K |
probably benign |
Het |
| Hgf |
T |
A |
5: 16,766,059 (GRCm39) |
V65E |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,762,084 (GRCm39) |
L198Q |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,870,840 (GRCm39) |
R264H |
probably damaging |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Kdm4d |
T |
A |
9: 14,375,537 (GRCm39) |
Y107F |
probably damaging |
Het |
| Lad1 |
T |
A |
1: 135,759,630 (GRCm39) |
S509T |
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,573,446 (GRCm39) |
P143Q |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,716 (GRCm39) |
T340A |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,318 (GRCm39) |
H99R |
probably benign |
Het |
| Mmp11 |
T |
A |
10: 75,763,067 (GRCm39) |
D175V |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 88,026,943 (GRCm39) |
M813K |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,588,959 (GRCm39) |
N603D |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,489 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8c18 |
G |
A |
9: 38,204,080 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pcdha2 |
A |
C |
18: 37,072,879 (GRCm39) |
Y170S |
probably damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,354 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,804,553 (GRCm39) |
D799V |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,064 (GRCm39) |
Y430C |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,818 (GRCm39) |
F575L |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,306 (GRCm39) |
I406F |
probably benign |
Het |
| Rpgrip1 |
A |
T |
14: 52,382,857 (GRCm39) |
E674D |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,155,196 (GRCm39) |
V420A |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,690 (GRCm39) |
M411L |
probably benign |
Het |
| Spata31h1 |
C |
A |
10: 82,120,401 (GRCm39) |
C4203F |
possibly damaging |
Het |
| Tmem150a |
T |
G |
6: 72,333,722 (GRCm39) |
M28R |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,000 (GRCm39) |
Y233H |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,596 (GRCm39) |
H315Q |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,444,244 (GRCm39) |
N565K |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,312,179 (GRCm39) |
Q172* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,674,067 (GRCm39) |
S344T |
possibly damaging |
Het |
| Zfp970 |
T |
C |
2: 177,167,878 (GRCm39) |
I484T |
probably benign |
Het |
|
| Other mutations in Ufl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00703:Ufl1
|
APN |
4 |
25,280,631 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL00899:Ufl1
|
APN |
4 |
25,262,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00928:Ufl1
|
APN |
4 |
25,267,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00949:Ufl1
|
APN |
4 |
25,275,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02179:Ufl1
|
APN |
4 |
25,254,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02228:Ufl1
|
APN |
4 |
25,281,686 (GRCm39) |
missense |
probably benign |
|
|
IGL02237:Ufl1
|
APN |
4 |
25,269,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02294:Ufl1
|
APN |
4 |
25,259,281 (GRCm39) |
nonsense |
probably null |
|
|
IGL02331:Ufl1
|
APN |
4 |
25,251,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Ufl1
|
APN |
4 |
25,259,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02541:Ufl1
|
APN |
4 |
25,250,534 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03053:Ufl1
|
APN |
4 |
25,275,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0054:Ufl1
|
UTSW |
4 |
25,269,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0054:Ufl1
|
UTSW |
4 |
25,269,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0164:Ufl1
|
UTSW |
4 |
25,256,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0164:Ufl1
|
UTSW |
4 |
25,256,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0172:Ufl1
|
UTSW |
4 |
25,280,685 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2069:Ufl1
|
UTSW |
4 |
25,269,036 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4320:Ufl1
|
UTSW |
4 |
25,278,601 (GRCm39) |
splice site |
probably null |
|
|
R4467:Ufl1
|
UTSW |
4 |
25,254,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Ufl1
|
UTSW |
4 |
25,267,832 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5049:Ufl1
|
UTSW |
4 |
25,254,773 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5071:Ufl1
|
UTSW |
4 |
25,254,780 (GRCm39) |
missense |
probably benign |
|
|
R5072:Ufl1
|
UTSW |
4 |
25,254,780 (GRCm39) |
missense |
probably benign |
|
|
R5073:Ufl1
|
UTSW |
4 |
25,254,780 (GRCm39) |
missense |
probably benign |
|
|
R5099:Ufl1
|
UTSW |
4 |
25,275,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5108:Ufl1
|
UTSW |
4 |
25,269,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5127:Ufl1
|
UTSW |
4 |
25,256,010 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5262:Ufl1
|
UTSW |
4 |
25,251,294 (GRCm39) |
intron |
probably benign |
|
|
R5409:Ufl1
|
UTSW |
4 |
25,280,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Ufl1
|
UTSW |
4 |
25,250,619 (GRCm39) |
missense |
probably benign |
|
|
R6031:Ufl1
|
UTSW |
4 |
25,278,038 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6031:Ufl1
|
UTSW |
4 |
25,278,038 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6107:Ufl1
|
UTSW |
4 |
25,251,999 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6157:Ufl1
|
UTSW |
4 |
25,279,350 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6296:Ufl1
|
UTSW |
4 |
25,270,572 (GRCm39) |
missense |
probably benign |
|
|
R6360:Ufl1
|
UTSW |
4 |
25,265,476 (GRCm39) |
missense |
probably benign |
|
|
R6514:Ufl1
|
UTSW |
4 |
25,262,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Ufl1
|
UTSW |
4 |
25,267,796 (GRCm39) |
nonsense |
probably null |
|
|
R6755:Ufl1
|
UTSW |
4 |
25,262,316 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7196:Ufl1
|
UTSW |
4 |
25,250,669 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7247:Ufl1
|
UTSW |
4 |
25,254,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Ufl1
|
UTSW |
4 |
25,254,852 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7755:Ufl1
|
UTSW |
4 |
25,262,274 (GRCm39) |
missense |
probably benign |
|
|
R8156:Ufl1
|
UTSW |
4 |
25,269,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8235:Ufl1
|
UTSW |
4 |
25,278,656 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8247:Ufl1
|
UTSW |
4 |
25,250,606 (GRCm39) |
missense |
probably benign |
|
|
R8933:Ufl1
|
UTSW |
4 |
25,262,258 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9008:Ufl1
|
UTSW |
4 |
25,254,778 (GRCm39) |
nonsense |
probably null |
|
|
R9147:Ufl1
|
UTSW |
4 |
25,278,712 (GRCm39) |
splice site |
probably benign |
|
|
R9404:Ufl1
|
UTSW |
4 |
25,275,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9601:Ufl1
|
UTSW |
4 |
25,275,807 (GRCm39) |
missense |
probably benign |
0.22 |
|
RF037:Ufl1
|
UTSW |
4 |
25,280,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
RF039:Ufl1
|
UTSW |
4 |
25,280,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
V7732:Ufl1
|
UTSW |
4 |
25,251,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTCAGCAGTAAAGCTTCCC -3'
(R):5'- TTCTTTCCACAGGATCAACATACTC -3'
Sequencing Primer
(F):5'- GCAGTAAAGCTTCCCATAAAGTCTG -3'
(R):5'- ACAGGATCAACATACTCTCTTGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation