Incidental Mutation 'R7287:Ufl1'
ID |
566072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ufl1
|
Ensembl Gene |
ENSMUSG00000040359 |
Gene Name |
UFM1 specific ligase 1 |
Synonyms |
Rcad, 1810074P20Rik, Maxer |
MMRRC Submission |
045321-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R7287 (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 A
at 25254852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 535
(T535S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038705]
[ENSMUST00000102994]
|
AlphaFold |
Q8CCJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038705
AA Change: T455S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000042118 Gene: ENSMUSG00000040359 AA Change: T455S
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: T535S
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000100059 Gene: ENSMUSG00000040359 AA Change: T535S
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 |
0.0578 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,604,861 (GRCm39) |
D656G |
possibly damaging |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,762,534 (GRCm39) |
H1209R |
probably damaging |
Het |
Adam26a |
T |
C |
8: 44,023,380 (GRCm39) |
T37A |
possibly damaging |
Het |
Adamts9 |
C |
T |
6: 92,866,984 (GRCm39) |
R685Q |
possibly damaging |
Het |
Anapc7 |
T |
A |
5: 122,571,499 (GRCm39) |
N191K |
probably benign |
Het |
Ankrd26 |
C |
T |
6: 118,526,598 (GRCm39) |
|
probably null |
Het |
Ap5z1 |
T |
C |
5: 142,459,802 (GRCm39) |
L484P |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,063,993 (GRCm39) |
D77G |
|
Het |
Atp10a |
T |
A |
7: 58,477,017 (GRCm39) |
D1213E |
probably damaging |
Het |
B3gnt8 |
T |
C |
7: 25,328,395 (GRCm39) |
L275P |
probably damaging |
Het |
Bltp2 |
G |
A |
11: 78,163,709 (GRCm39) |
R1059H |
possibly damaging |
Het |
Cab39 |
A |
G |
1: 85,746,182 (GRCm39) |
E21G |
probably benign |
Het |
Capn15 |
G |
T |
17: 26,179,429 (GRCm39) |
S948R |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,973,154 (GRCm39) |
T15A |
unknown |
Het |
Ccdc81 |
C |
T |
7: 89,542,331 (GRCm39) |
A182T |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,922,688 (GRCm39) |
H766R |
probably benign |
Het |
Cfl1 |
T |
C |
19: 5,542,562 (GRCm39) |
V14A |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,850,312 (GRCm39) |
I875T |
probably benign |
Het |
Cidec |
T |
A |
6: 113,405,359 (GRCm39) |
E121D |
probably benign |
Het |
Clpx |
C |
A |
9: 65,207,295 (GRCm39) |
Y64* |
probably null |
Het |
Cntn1 |
T |
A |
15: 92,143,833 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
A |
G |
2: 170,327,826 (GRCm39) |
L472P |
probably damaging |
Het |
Dcdc2c |
G |
T |
12: 28,566,685 (GRCm39) |
D159E |
probably benign |
Het |
Emp1 |
T |
C |
6: 135,357,167 (GRCm39) |
F82L |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,404 (GRCm39) |
T619A |
probably benign |
Het |
Fgf15 |
A |
T |
7: 144,450,531 (GRCm39) |
D39V |
probably benign |
Het |
Galnt12 |
T |
G |
4: 47,108,525 (GRCm39) |
F221V |
probably damaging |
Het |
Herc6 |
A |
G |
6: 57,628,965 (GRCm39) |
|
probably null |
Het |
Hspg2 |
G |
A |
4: 137,256,867 (GRCm39) |
V1537I |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,025,154 (GRCm39) |
|
probably null |
Het |
Insr |
G |
A |
8: 3,219,717 (GRCm39) |
T935I |
probably benign |
Het |
Itgax |
G |
A |
7: 127,747,677 (GRCm39) |
C1031Y |
probably damaging |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Kmt5b |
T |
C |
19: 3,854,501 (GRCm39) |
Y255H |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 103,051,877 (GRCm39) |
Y292N |
probably benign |
Het |
Mrpl37 |
A |
G |
4: 106,917,717 (GRCm39) |
F318S |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,070,076 (GRCm39) |
N311D |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp9b |
T |
C |
7: 19,762,381 (GRCm39) |
C673R |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
Plce1 |
A |
T |
19: 38,690,347 (GRCm39) |
Q677L |
probably benign |
Het |
Pmel |
C |
T |
10: 128,551,095 (GRCm39) |
Q113* |
probably null |
Het |
Pom121l2 |
T |
A |
13: 22,168,502 (GRCm39) |
F924L |
probably benign |
Het |
Poteg |
G |
A |
8: 27,943,372 (GRCm39) |
R214K |
probably null |
Het |
Pprc1 |
G |
T |
19: 46,059,793 (GRCm39) |
S1480I |
unknown |
Het |
Secisbp2l |
A |
G |
2: 125,582,289 (GRCm39) |
S1056P |
probably benign |
Het |
Selenoo |
T |
C |
15: 88,982,903 (GRCm39) |
F477L |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
Slc25a11 |
T |
C |
11: 70,536,181 (GRCm39) |
D211G |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,253,752 (GRCm39) |
D131G |
probably benign |
Het |
Tcf25 |
G |
A |
8: 124,100,711 (GRCm39) |
A34T |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,205,818 (GRCm39) |
Y530H |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tmem132d |
G |
T |
5: 128,061,415 (GRCm39) |
Q396K |
probably damaging |
Het |
Tmem154 |
A |
G |
3: 84,597,870 (GRCm39) |
T136A |
possibly damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,742 (GRCm39) |
T415A |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,517,925 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
T |
C |
7: 4,128,657 (GRCm39) |
Y185H |
probably benign |
Het |
Vmn1r15 |
T |
C |
6: 57,235,201 (GRCm39) |
L23P |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,040 (GRCm39) |
H78L |
possibly damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,871,460 (GRCm39) |
T608A |
probably benign |
Het |
Vwf |
A |
G |
6: 125,614,430 (GRCm39) |
I1104V |
|
Het |
Zbtb2 |
C |
T |
10: 4,318,986 (GRCm39) |
D347N |
possibly damaging |
Het |
Zfyve9 |
A |
T |
4: 108,575,453 (GRCm39) |
S543T |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,692 (GRCm39) |
N518S |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,775 (GRCm39) |
V852A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTGTCTTCAGCAAGTGC -3'
(R):5'- TTTTAACTGCTAGAAAGATGGAGGG -3'
Sequencing Primer
(F):5'- AAGAGCAGTCTGTGTGTCATC -3'
(R):5'- GGAGGGTTTTTAAAATGTTATTGCAC -3'
|
Posted On |
2019-06-26 |