Incidental Mutation 'R8235:Ufl1'
| ID |
637294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufl1
|
| Ensembl Gene |
ENSMUSG00000040359 |
| Gene Name |
UFM1 specific ligase 1 |
| Synonyms |
Rcad, 1810074P20Rik, Maxer |
| MMRRC Submission |
067667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R8235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
25248600-25281821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25278656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 100
(I100V)
|
| 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: I20V
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: I20V
| 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 benign
Transcript: ENSMUST00000102994
AA Change: I100V
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: I100V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,212,077 (GRCm39) |
Q279H |
probably damaging |
Het |
| Abhd13 |
G |
A |
8: 10,037,394 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,365,650 (GRCm39) |
N368S |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,967,458 (GRCm39) |
M1089T |
probably benign |
Het |
| Cbll1 |
C |
T |
12: 31,541,570 (GRCm39) |
D103N |
probably benign |
Het |
| Ccnd2 |
T |
C |
6: 127,107,305 (GRCm39) |
D288G |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,630,870 (GRCm39) |
R181S |
probably benign |
Het |
| Chrna7 |
T |
C |
7: 62,861,972 (GRCm39) |
R27G |
probably damaging |
Het |
| Crybb1 |
A |
G |
5: 112,405,266 (GRCm39) |
K6R |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,189,153 (GRCm39) |
T83M |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,705,984 (GRCm39) |
E269K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,460,576 (GRCm39) |
V729A |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,595,545 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Hpn |
T |
C |
7: 30,802,208 (GRCm39) |
T228A |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,935,323 (GRCm39) |
H3597Q |
possibly damaging |
Het |
| Map3k4 |
A |
T |
17: 12,458,968 (GRCm39) |
|
probably null |
Het |
| Msto1 |
A |
T |
3: 88,820,228 (GRCm39) |
L89Q |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,436,110 (GRCm39) |
E2185G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,824 (GRCm39) |
E1534G |
probably damaging |
Het |
| Nfkbia |
T |
C |
12: 55,537,608 (GRCm39) |
Y195C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,603 (GRCm39) |
M469K |
probably benign |
Het |
| Nwd1 |
TCATCC |
TCATCCATCC |
8: 73,438,314 (GRCm39) |
|
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,226 (GRCm39) |
I221V |
probably benign |
Het |
| Potefam3e |
C |
A |
8: 19,799,476 (GRCm39) |
T308N |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,859,037 (GRCm39) |
Q1418* |
probably null |
Het |
| Ptk2 |
T |
C |
15: 73,215,140 (GRCm39) |
T13A |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,465,037 (GRCm39) |
N1292K |
possibly damaging |
Het |
| Ptprq |
A |
C |
10: 107,418,402 (GRCm39) |
V1658G |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,541,351 (GRCm39) |
F392I |
probably benign |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,325,461 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
C |
T |
7: 28,106,031 (GRCm39) |
V396I |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,029,952 (GRCm39) |
L906Q |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,257 (GRCm39) |
D33G |
probably damaging |
Het |
| Trmt10c |
T |
C |
16: 55,854,939 (GRCm39) |
N232S |
probably benign |
Het |
| Trpc4 |
G |
A |
3: 54,209,669 (GRCm39) |
C678Y |
probably benign |
Het |
| Tulp3 |
T |
C |
6: 128,304,640 (GRCm39) |
N205D |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,810,681 (GRCm39) |
I314V |
probably benign |
Het |
| Vegfa |
A |
T |
17: 46,342,236 (GRCm39) |
L194Q |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,678 (GRCm39) |
F1669S |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
| Zfp184 |
T |
G |
13: 22,144,053 (GRCm39) |
I586M |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAGGGCAATCAAGTGGC -3'
(R):5'- AGGTATCTGCCATGATACTCAGC -3'
Sequencing Primer
(F):5'- ATGTATTCCCCCAAATTAGCACTTAC -3'
(R):5'- CTAAGTGATATGTAAAGGGTGTA -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation