Incidental Mutation 'R0164:Ufl1'
ID |
24315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ufl1
|
Ensembl Gene |
ENSMUSG00000040359 |
Gene Name |
UFM1 specific ligase 1 |
Synonyms |
Rcad, 1810074P20Rik, Maxer |
MMRRC Submission |
038440-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R0164 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
25248600-25281821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25256008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 504
(Y504N)
|
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: Y424N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042118 Gene: ENSMUSG00000040359 AA Change: Y424N
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: Y504N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000100059 Gene: ENSMUSG00000040359 AA Change: Y504N
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: ENSMUST00000124792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142949
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
69% (18/26) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
4930522L14Rik |
T |
C |
5: 109,884,713 (GRCm39) |
K382E |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,422,280 (GRCm39) |
E297G |
probably damaging |
Het |
Aldh3a2 |
C |
T |
11: 61,139,714 (GRCm39) |
V473I |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,523,663 (GRCm39) |
I369K |
possibly damaging |
Het |
Atp1b3 |
T |
C |
9: 96,220,762 (GRCm39) |
I178V |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,205,956 (GRCm39) |
E520G |
possibly damaging |
Het |
BB019430 |
A |
T |
10: 58,540,093 (GRCm39) |
|
noncoding transcript |
Het |
Btbd1 |
T |
A |
7: 81,450,751 (GRCm39) |
Q343L |
probably benign |
Het |
Catsper1 |
A |
G |
19: 5,389,503 (GRCm39) |
T473A |
possibly damaging |
Het |
Ccn4 |
T |
C |
15: 66,791,059 (GRCm39) |
L287P |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,806,349 (GRCm39) |
|
probably null |
Het |
Cstdc7 |
T |
A |
18: 42,306,608 (GRCm39) |
D58E |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,755,195 (GRCm39) |
V200A |
possibly damaging |
Het |
D830013O20Rik |
C |
T |
12: 73,411,105 (GRCm39) |
|
noncoding transcript |
Het |
Dcaf1 |
T |
A |
9: 106,721,344 (GRCm39) |
S379T |
possibly damaging |
Het |
Dhx58 |
T |
C |
11: 100,586,150 (GRCm39) |
I624V |
probably benign |
Het |
Disp3 |
T |
C |
4: 148,338,708 (GRCm39) |
E821G |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,066,594 (GRCm39) |
E464V |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,860,898 (GRCm39) |
V2151I |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,639 (GRCm39) |
G2617D |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,809,630 (GRCm39) |
E872* |
probably null |
Het |
Dock9 |
T |
C |
14: 121,835,077 (GRCm39) |
Y99C |
probably damaging |
Het |
Dpy19l3 |
T |
A |
7: 35,416,071 (GRCm39) |
I310F |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,725,891 (GRCm39) |
I137F |
probably damaging |
Het |
Gm14012 |
C |
T |
2: 128,079,936 (GRCm39) |
|
noncoding transcript |
Het |
Gm14421 |
A |
T |
2: 176,748,515 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
G |
16: 9,812,685 (GRCm39) |
|
probably null |
Het |
Incenp |
A |
G |
19: 9,872,243 (GRCm39) |
S72P |
probably benign |
Het |
Klc3 |
T |
A |
7: 19,128,851 (GRCm39) |
N469Y |
possibly damaging |
Het |
Lrrc42 |
A |
G |
4: 107,104,702 (GRCm39) |
S88P |
probably benign |
Het |
Lrrc49 |
G |
A |
9: 60,587,883 (GRCm39) |
T93I |
probably benign |
Het |
Mlycd |
A |
T |
8: 120,134,380 (GRCm39) |
Q294L |
probably damaging |
Het |
Mrpl22 |
T |
A |
11: 58,062,647 (GRCm39) |
I19N |
probably benign |
Het |
Msh3 |
T |
A |
13: 92,485,717 (GRCm39) |
K202N |
probably damaging |
Het |
Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
Ncam1 |
C |
T |
9: 49,479,709 (GRCm39) |
D90N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,952,144 (GRCm39) |
D1405E |
possibly damaging |
Het |
Ncoa2 |
A |
G |
1: 13,256,955 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
A |
T |
11: 71,054,925 (GRCm39) |
W844R |
probably damaging |
Het |
Nmnat1 |
G |
T |
4: 149,553,607 (GRCm39) |
N168K |
possibly damaging |
Het |
Or5b96 |
A |
G |
19: 12,867,809 (GRCm39) |
L44P |
probably damaging |
Het |
Ost4 |
T |
C |
5: 31,064,803 (GRCm39) |
H26R |
probably damaging |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,710,391 (GRCm39) |
I566N |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,289,004 (GRCm39) |
S282P |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,377,635 (GRCm39) |
E581K |
probably damaging |
Het |
Ralgps2 |
A |
G |
1: 156,714,659 (GRCm39) |
|
probably null |
Het |
Scmh1 |
T |
C |
4: 120,387,062 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,391,417 (GRCm39) |
H150R |
possibly damaging |
Het |
Sh2b3 |
T |
G |
5: 121,967,100 (GRCm39) |
T5P |
probably damaging |
Het |
Tdp2 |
A |
G |
13: 25,022,222 (GRCm39) |
M214V |
probably damaging |
Het |
Tmem204 |
A |
G |
17: 25,277,324 (GRCm39) |
I187T |
probably damaging |
Het |
Tmem208 |
T |
G |
8: 106,061,326 (GRCm39) |
D117E |
probably benign |
Het |
Tnks1bp1 |
C |
T |
2: 84,889,565 (GRCm39) |
P631S |
possibly damaging |
Het |
Tomm70a |
T |
C |
16: 56,968,184 (GRCm39) |
V517A |
probably damaging |
Het |
Ttc7 |
T |
C |
17: 87,687,323 (GRCm39) |
V801A |
probably damaging |
Het |
Txndc5 |
A |
T |
13: 38,691,929 (GRCm39) |
C146S |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,444,781 (GRCm39) |
T493K |
probably damaging |
Het |
Ulk3 |
T |
A |
9: 57,497,969 (GRCm39) |
I90N |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,602,174 (GRCm39) |
I1357M |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r91 |
A |
C |
17: 18,326,399 (GRCm39) |
N228T |
probably benign |
Het |
Zbtb6 |
G |
T |
2: 37,319,600 (GRCm39) |
Y109* |
probably null |
Het |
Zfp640 |
G |
T |
13: 66,819,062 (GRCm39) |
|
noncoding transcript |
Het |
Zfp640 |
C |
A |
13: 66,819,038 (GRCm39) |
|
noncoding transcript |
Het |
Zfp980 |
A |
G |
4: 145,428,567 (GRCm39) |
D432G |
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 |
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 |
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 |
|
Posted On |
2013-04-16 |