Incidental Mutation 'IGL00949:Ufl1'
| ID |
27289 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ufl1
|
| Ensembl Gene |
ENSMUSG00000040359 |
| Gene Name |
UFM1 specific ligase 1 |
| Synonyms |
Rcad, 1810074P20Rik, Maxer |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
IGL00949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
25248600-25281821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25275822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 194
(F194I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038705]
[ENSMUST00000102994]
|
| AlphaFold |
Q8CCJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038705
AA Change: F114I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: F114I
| 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 |
probably damaging
Transcript: ENSMUST00000102994
AA Change: F194I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: F194I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142949
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
A |
G |
X: 141,126,325 (GRCm39) |
C303R |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,254,731 (GRCm39) |
G209S |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,635,467 (GRCm39) |
T56A |
possibly damaging |
Het |
| Arnt |
T |
A |
3: 95,394,579 (GRCm39) |
I381N |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,653 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,830,268 (GRCm39) |
T21S |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,229 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,198,826 (GRCm39) |
T753A |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,029,047 (GRCm39) |
M561T |
probably benign |
Het |
| Dsc3 |
C |
A |
18: 20,118,688 (GRCm39) |
G259C |
probably null |
Het |
| Enox2 |
A |
T |
X: 48,129,484 (GRCm39) |
D346E |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,017,130 (GRCm39) |
E619G |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,617,415 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
C |
T |
14: 55,914,207 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,931,267 (GRCm39) |
E289G |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,946,014 (GRCm39) |
T108I |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,590,510 (GRCm39) |
V531A |
probably damaging |
Het |
| Lamp2 |
T |
C |
X: 37,524,350 (GRCm39) |
N156S |
probably benign |
Het |
| Lrrn1 |
C |
A |
6: 107,546,261 (GRCm39) |
N686K |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,810,070 (GRCm39) |
V580A |
possibly damaging |
Het |
| Ms4a8a |
C |
A |
19: 11,056,808 (GRCm39) |
L91F |
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,298,099 (GRCm39) |
F646L |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,662 (GRCm39) |
V818A |
probably benign |
Het |
| Or2w4 |
A |
T |
13: 21,795,521 (GRCm39) |
I206N |
probably damaging |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Pid1 |
A |
G |
1: 84,016,227 (GRCm39) |
V46A |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,803,039 (GRCm39) |
C409S |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,410,523 (GRCm39) |
T105A |
possibly damaging |
Het |
| Polrmt |
T |
C |
10: 79,573,431 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,667 (GRCm39) |
N133S |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,204,419 (GRCm39) |
V228L |
probably benign |
Het |
| Ptgfrn |
A |
T |
3: 100,980,161 (GRCm39) |
M393K |
probably benign |
Het |
| Slc9a1 |
C |
T |
4: 133,143,762 (GRCm39) |
T416I |
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,413,721 (GRCm39) |
S950P |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,241 (GRCm39) |
V490D |
probably damaging |
Het |
| Th |
T |
C |
7: 142,450,763 (GRCm39) |
Y131C |
probably benign |
Het |
| Tlr6 |
A |
G |
5: 65,110,855 (GRCm39) |
L684P |
probably damaging |
Het |
| Tpm3 |
A |
G |
3: 89,997,165 (GRCm39) |
E234G |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,824,319 (GRCm39) |
Y1045H |
probably benign |
Het |
| Txnl4b |
T |
A |
8: 110,295,707 (GRCm39) |
V37D |
probably benign |
Het |
| Usp13 |
G |
A |
3: 32,940,726 (GRCm39) |
E412K |
possibly damaging |
Het |
| Usp46 |
A |
T |
5: 74,163,903 (GRCm39) |
L251Q |
possibly damaging |
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 |
|
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 |
|
|
R9197:Ufl1
|
UTSW |
4 |
25,250,519 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation