Incidental Mutation 'R8156:Ufl1'
| ID |
633308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufl1
|
| Ensembl Gene |
ENSMUSG00000040359 |
| Gene Name |
UFM1 specific ligase 1 |
| Synonyms |
Rcad, 1810074P20Rik, Maxer |
| MMRRC Submission |
067582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R8156 (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 25269057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 258
(D258G)
|
| 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: D178G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: D178G
| 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: D258G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: D258G
| 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 |
0.8513 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
95% (40/42) |
| 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 |
|---|
| Alyref |
T |
C |
11: 120,489,074 (GRCm39) |
R31G |
probably benign |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| Arhgap31 |
G |
T |
16: 38,445,991 (GRCm39) |
A118E |
probably damaging |
Het |
| Asb5 |
T |
A |
8: 55,003,541 (GRCm39) |
I21K |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,546,760 (GRCm39) |
I515V |
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,665 (GRCm39) |
P236S |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,566,824 (GRCm39) |
T351A |
probably benign |
Het |
| Cd1d2 |
T |
A |
3: 86,894,569 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
A |
17: 15,981,666 (GRCm39) |
D1368E |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,682 (GRCm39) |
I140V |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,817,825 (GRCm39) |
D65G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,432,625 (GRCm39) |
T843A |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
G |
9: 86,376,510 (GRCm39) |
D248G |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,723,388 (GRCm39) |
C197* |
probably null |
Het |
| Flg2 |
T |
C |
3: 93,127,390 (GRCm39) |
S2101P |
unknown |
Het |
| Foxg1 |
A |
G |
12: 49,431,429 (GRCm39) |
H54R |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr35 |
A |
G |
1: 92,910,437 (GRCm39) |
T50A |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,322 (GRCm39) |
Y108F |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,886,138 (GRCm39) |
A811E |
probably damaging |
Het |
| Hephl1 |
A |
T |
9: 14,972,210 (GRCm39) |
V910E |
possibly damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,280 (GRCm39) |
Y384F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,733,686 (GRCm39) |
I2210M |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,992,196 (GRCm39) |
|
probably null |
Het |
| Lsm4 |
G |
A |
8: 71,131,018 (GRCm39) |
G112S |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,464,554 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,746 (GRCm39) |
R396G |
probably benign |
Het |
| Or10ag56 |
A |
C |
2: 87,139,318 (GRCm39) |
I82L |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,338 (GRCm39) |
S651P |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,909,172 (GRCm39) |
M91V |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,640,226 (GRCm39) |
R302H |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,415 (GRCm39) |
T390A |
probably benign |
Het |
| Snx10 |
T |
C |
6: 51,538,999 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,847,393 (GRCm39) |
C264R |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,737,138 (GRCm39) |
C1438R |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,173,486 (GRCm39) |
T3A |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,609,975 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
A |
G |
9: 114,342,192 (GRCm39) |
S697P |
probably benign |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,183 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,099,115 (GRCm39) |
H373L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATCTTCAGTCCCAAAGCCC -3'
(R):5'- CGGGCTGAAGACATTATTTGGC -3'
Sequencing Primer
(F):5'- ATTGAAAGTAACAACTTTTGCAGTC -3'
(R):5'- GGCCTTTAAAACTGTGTCGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation