Incidental Mutation 'R6031:Ufl1'
| ID |
486258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufl1
|
| Ensembl Gene |
ENSMUSG00000040359 |
| Gene Name |
UFM1 specific ligase 1 |
| Synonyms |
Rcad, 1810074P20Rik, Maxer |
| MMRRC Submission |
044203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R6031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
25248600-25281821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25278038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 139
(V139A)
|
| 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: V59A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: V59A
| 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: V139A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: V139A
| 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: ENSMUST00000132558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142949
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,084 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,655 (GRCm39) |
E268G |
probably damaging |
Het |
| Akr1b1 |
A |
C |
6: 34,289,609 (GRCm39) |
V67G |
probably benign |
Het |
| Alms1 |
A |
T |
6: 85,599,937 (GRCm39) |
N1588Y |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,366,965 (GRCm39) |
D1082V |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,207 (GRCm39) |
V301A |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atg7 |
T |
A |
6: 114,648,194 (GRCm39) |
C31S |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,176 (GRCm39) |
N1105K |
possibly damaging |
Het |
| Ccdc125 |
C |
T |
13: 100,820,877 (GRCm39) |
|
probably null |
Het |
| Ccdc63 |
T |
C |
5: 122,267,799 (GRCm39) |
I56V |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,714 (GRCm39) |
E1143G |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,421,556 (GRCm39) |
|
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,311,369 (GRCm39) |
D473E |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,620,275 (GRCm39) |
V336L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,017,106 (GRCm39) |
I782T |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,427 (GRCm39) |
V230A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,899,788 (GRCm39) |
T3082S |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,105,688 (GRCm39) |
Y445H |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,757,202 (GRCm39) |
R185Q |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,818 (GRCm39) |
I309T |
possibly damaging |
Het |
| Gfi1b |
G |
A |
2: 28,503,820 (GRCm39) |
Q127* |
probably null |
Het |
| Gfpt1 |
C |
A |
6: 87,063,302 (GRCm39) |
T563N |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,108,608 (GRCm39) |
D237G |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,666,465 (GRCm39) |
V305D |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,859,307 (GRCm39) |
V9A |
probably damaging |
Het |
| Ipo4 |
G |
A |
14: 55,869,596 (GRCm39) |
P355S |
probably damaging |
Het |
| Jade2 |
G |
T |
11: 51,717,413 (GRCm39) |
C314* |
probably null |
Het |
| Kri1 |
T |
C |
9: 21,186,565 (GRCm39) |
E597G |
probably benign |
Het |
| Mcub |
A |
G |
3: 129,720,038 (GRCm39) |
Y152H |
probably damaging |
Het |
| Med23 |
C |
T |
10: 24,779,646 (GRCm39) |
R542* |
probably null |
Het |
| Ndc80 |
T |
C |
17: 71,818,483 (GRCm39) |
N291S |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,110,529 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,896,218 (GRCm39) |
N984S |
probably damaging |
Het |
| Ntm |
A |
C |
9: 28,920,671 (GRCm39) |
L86R |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,219 (GRCm39) |
D1847E |
possibly damaging |
Het |
| Odf2l |
A |
G |
3: 144,845,624 (GRCm39) |
Q334R |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,588 (GRCm39) |
|
probably null |
Het |
| Or2ag2 |
C |
T |
7: 106,485,134 (GRCm39) |
V297I |
possibly damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,316 (GRCm39) |
T36S |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,296 (GRCm39) |
R227G |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,722 (GRCm39) |
V47E |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,224 (GRCm39) |
V222A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,073,037 (GRCm39) |
R153G |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,776 (GRCm39) |
K190N |
probably damaging |
Het |
| Pdik1l |
A |
G |
4: 134,006,352 (GRCm39) |
F197L |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,764 (GRCm39) |
F219L |
probably damaging |
Het |
| Rnf208 |
A |
C |
2: 25,133,776 (GRCm39) |
T157P |
probably damaging |
Het |
| RP23-145I16.3 |
A |
T |
7: 141,930,451 (GRCm39) |
C364S |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,881,865 (GRCm39) |
D644V |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,125,401 (GRCm39) |
C204S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,565 (GRCm39) |
I444T |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,282,191 (GRCm39) |
I696F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,660,941 (GRCm39) |
V7422D |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,308,238 (GRCm39) |
V381D |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,636,367 (GRCm39) |
Y173N |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,158 (GRCm39) |
T78A |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,472,114 (GRCm39) |
L806M |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,895,079 (GRCm39) |
H394Q |
probably benign |
Het |
| Wdr53 |
T |
A |
16: 32,075,536 (GRCm39) |
V247D |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,338,695 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,809,732 (GRCm39) |
D3G |
possibly damaging |
Het |
| Zfp93 |
G |
T |
7: 23,975,725 (GRCm39) |
C570F |
probably damaging |
Het |
| Zfp943 |
C |
T |
17: 22,212,357 (GRCm39) |
T481I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCTTCAGAGCCATCAAG -3'
(R):5'- GATCTGAGCAACAAGTGATGC -3'
Sequencing Primer
(F):5'- CCTTCAGAGCCATCAAGTAGGTG -3'
(R):5'- ACAAGTGATGCTCATTCCCG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation