Incidental Mutation 'R0172:Ufl1'
| ID |
24261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufl1
|
| Ensembl Gene |
ENSMUSG00000040359 |
| Gene Name |
UFM1 specific ligase 1 |
| Synonyms |
Rcad, 1810074P20Rik, Maxer |
| MMRRC Submission |
038444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R0172 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
25248600-25281821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25280685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 54
(K54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038705]
[ENSMUST00000102994]
|
| AlphaFold |
Q8CCJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038705
|
| SMART Domains |
Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
| 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: K54R
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: K54R
| 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
|
| Meta Mutation Damage Score |
0.1920 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
82% (40/49) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,578 (GRCm39) |
C488S |
probably damaging |
Het |
| Abca12 |
T |
G |
1: 71,318,561 (GRCm39) |
D1814A |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,314,549 (GRCm39) |
N272S |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,811,888 (GRCm39) |
V1145A |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,628 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,610,301 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,155,411 (GRCm39) |
E2253G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,193 (GRCm39) |
N237S |
probably benign |
Het |
| Crispld2 |
T |
C |
8: 120,752,810 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2c65 |
G |
T |
19: 39,076,100 (GRCm39) |
V351L |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,056,389 (GRCm39) |
F574L |
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,086,031 (GRCm39) |
T370M |
possibly damaging |
Het |
| Dmwd |
C |
T |
7: 18,814,267 (GRCm39) |
R306C |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,188 (GRCm39) |
Y3040C |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,309,935 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,882,246 (GRCm39) |
I202V |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,070,574 (GRCm39) |
V2283D |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,938,328 (GRCm39) |
N625S |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,649,814 (GRCm39) |
S415P |
probably benign |
Het |
| F830016B08Rik |
G |
T |
18: 60,433,036 (GRCm39) |
D40Y |
possibly damaging |
Het |
| Fam118a |
A |
G |
15: 84,929,951 (GRCm39) |
I60V |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,852,768 (GRCm39) |
M150K |
unknown |
Het |
| Fam193a |
C |
T |
5: 34,622,957 (GRCm39) |
R1182W |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,771,187 (GRCm39) |
I181K |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,003 (GRCm39) |
Y380N |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,015,218 (GRCm39) |
P1795Q |
probably damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,494 (GRCm39) |
E238G |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,853,234 (GRCm39) |
A172T |
probably damaging |
Het |
| Lipg |
G |
T |
18: 75,081,245 (GRCm39) |
H279N |
possibly damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,510,260 (GRCm39) |
D453G |
possibly damaging |
Het |
| Map1s |
T |
A |
8: 71,367,612 (GRCm39) |
M839K |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Myo1h |
T |
A |
5: 114,467,225 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
T |
C |
13: 36,914,544 (GRCm39) |
R19G |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,712 (GRCm39) |
Y1099H |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,231,209 (GRCm39) |
R387C |
possibly damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,913 (GRCm39) |
V152A |
probably benign |
Het |
| Pappa2 |
C |
T |
1: 158,682,419 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
A |
T |
18: 37,575,990 (GRCm39) |
I123L |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,521 (GRCm39) |
T292A |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,358,111 (GRCm39) |
V469D |
probably damaging |
Het |
| Pop4 |
T |
C |
7: 37,962,679 (GRCm39) |
Y195C |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,188,588 (GRCm39) |
D42E |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,222 (GRCm39) |
I123N |
possibly damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,843,201 (GRCm39) |
G393* |
probably null |
Het |
| Smu1 |
C |
T |
4: 40,738,439 (GRCm39) |
V432I |
probably benign |
Het |
| Sohlh1 |
A |
G |
2: 25,736,215 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
A |
1: 174,058,352 (GRCm39) |
I1940K |
probably damaging |
Het |
| Sufu |
G |
T |
19: 46,385,563 (GRCm39) |
V8F |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem184b |
A |
G |
15: 79,262,740 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,694 (GRCm39) |
D161G |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGAATGCCCTATAACCTCCACG -3'
(R):5'- CTGCTAAGCCACATGACCTGTCTG -3'
Sequencing Primer
(F):5'- GGAATTACTTACCACCTCGGAC -3'
(R):5'- GAGCGGAACTGCATTGAGAT -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation