Incidental Mutation 'R8247:Ufl1'
ID |
640689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ufl1
|
Ensembl Gene |
ENSMUSG00000040359 |
Gene Name |
UFM1 specific ligase 1 |
Synonyms |
Rcad, 1810074P20Rik, Maxer |
MMRRC Submission |
067674-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R8247 (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 25250606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 749
(E749G)
|
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: E669G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042118 Gene: ENSMUSG00000040359 AA Change: E669G
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: E749G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100059 Gene: ENSMUSG00000040359 AA Change: E749G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (69/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
C |
6: 52,155,942 (GRCm39) |
S3P |
unknown |
Het |
Abca15 |
A |
T |
7: 119,936,445 (GRCm39) |
Y170F |
possibly damaging |
Het |
Alpl |
C |
T |
4: 137,473,764 (GRCm39) |
V313M |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,792,102 (GRCm39) |
H311R |
probably damaging |
Het |
Atm |
A |
T |
9: 53,361,870 (GRCm39) |
L2749Q |
|
Het |
Bicd2 |
C |
T |
13: 49,533,462 (GRCm39) |
R683W |
probably damaging |
Het |
Brat1 |
C |
A |
5: 140,698,893 (GRCm39) |
P342T |
possibly damaging |
Het |
Camta1 |
T |
A |
4: 151,159,721 (GRCm39) |
T482S |
probably damaging |
Het |
Carhsp1 |
A |
G |
16: 8,481,535 (GRCm39) |
V67A |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,282,998 (GRCm39) |
N512I |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Cd274 |
C |
T |
19: 29,362,795 (GRCm39) |
Q286* |
probably null |
Het |
Cep192 |
T |
A |
18: 67,974,188 (GRCm39) |
I1097N |
probably benign |
Het |
Cimip4 |
A |
C |
15: 78,262,992 (GRCm39) |
S221A |
probably benign |
Het |
Clvs1 |
A |
T |
4: 9,281,885 (GRCm39) |
N110Y |
possibly damaging |
Het |
Cntln |
A |
G |
4: 85,019,017 (GRCm39) |
T102A |
probably benign |
Het |
Cp |
A |
C |
3: 20,020,570 (GRCm39) |
I188L |
possibly damaging |
Het |
Crh |
A |
G |
3: 19,748,291 (GRCm39) |
L117P |
probably benign |
Het |
Dcaf1 |
A |
T |
9: 106,731,427 (GRCm39) |
I635F |
possibly damaging |
Het |
Dennd2c |
A |
G |
3: 103,059,637 (GRCm39) |
D521G |
probably damaging |
Het |
E2f2 |
C |
T |
4: 135,900,126 (GRCm39) |
T12M |
possibly damaging |
Het |
Eid2 |
G |
A |
7: 27,967,972 (GRCm39) |
R198H |
probably damaging |
Het |
Exosc4 |
G |
T |
15: 76,213,279 (GRCm39) |
C74F |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,010,694 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
T |
2: 120,267,181 (GRCm39) |
Q499L |
probably null |
Het |
Gfy |
T |
C |
7: 44,827,710 (GRCm39) |
T129A |
possibly damaging |
Het |
Gli3 |
G |
T |
13: 15,901,360 (GRCm39) |
M1582I |
possibly damaging |
Het |
Gm4744 |
A |
G |
6: 40,926,402 (GRCm39) |
S63P |
|
Het |
Htr2b |
T |
C |
1: 86,027,817 (GRCm39) |
T230A |
probably benign |
Het |
Iqcb1 |
T |
A |
16: 36,678,836 (GRCm39) |
N383K |
probably benign |
Het |
Lpcat1 |
A |
T |
13: 73,662,071 (GRCm39) |
I471F |
probably damaging |
Het |
Lrch3 |
T |
G |
16: 32,829,713 (GRCm39) |
L781* |
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,692 (GRCm39) |
S3T |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,261,431 (GRCm39) |
R4503S |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,756,310 (GRCm39) |
I695T |
probably damaging |
Het |
Mak |
G |
A |
13: 41,193,146 (GRCm39) |
T473M |
possibly damaging |
Het |
Map2k5 |
A |
T |
9: 63,279,019 (GRCm39) |
Y62N |
probably damaging |
Het |
Mbd3l2 |
T |
C |
9: 18,356,299 (GRCm39) |
L208P |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,840,062 (GRCm39) |
E2577G |
probably damaging |
Het |
Nfia |
A |
T |
4: 97,953,644 (GRCm39) |
T461S |
probably benign |
Het |
Oaz3 |
A |
G |
3: 94,343,741 (GRCm39) |
Y41H |
probably damaging |
Het |
Or10ab5 |
T |
A |
7: 108,245,370 (GRCm39) |
I138F |
probably damaging |
Het |
Or1p1 |
C |
A |
11: 74,180,315 (GRCm39) |
T281K |
noncoding transcript |
Het |
Or2ad1 |
A |
G |
13: 21,326,295 (GRCm39) |
S311P |
probably benign |
Het |
Or51m1 |
T |
C |
7: 103,578,783 (GRCm39) |
V251A |
possibly damaging |
Het |
Pin1rt1 |
T |
C |
2: 104,544,892 (GRCm39) |
E80G |
probably damaging |
Het |
Pmpcb |
T |
C |
5: 21,961,852 (GRCm39) |
Y457H |
probably damaging |
Het |
Polr2b |
T |
C |
5: 77,468,062 (GRCm39) |
S121P |
possibly damaging |
Het |
Ppm1e |
C |
T |
11: 87,122,101 (GRCm39) |
G619R |
probably benign |
Het |
Pramel5 |
T |
A |
4: 143,999,395 (GRCm39) |
M231L |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,270,194 (GRCm39) |
C1293F |
probably benign |
Het |
Psg20 |
A |
G |
7: 18,416,562 (GRCm39) |
F185L |
probably benign |
Het |
Psg28 |
A |
G |
7: 18,156,864 (GRCm39) |
V457A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,422,445 (GRCm39) |
L188P |
probably damaging |
Het |
Scd3 |
A |
T |
19: 44,227,003 (GRCm39) |
N279I |
possibly damaging |
Het |
Scg2 |
T |
G |
1: 79,414,236 (GRCm39) |
K162N |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,149,372 (GRCm39) |
E1629G |
probably benign |
Het |
Slc27a2 |
T |
A |
2: 126,395,515 (GRCm39) |
F147L |
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,557 (GRCm39) |
V76A |
probably benign |
Het |
Spic |
T |
C |
10: 88,511,923 (GRCm39) |
K111R |
probably damaging |
Het |
Spidr |
A |
G |
16: 15,786,390 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
T |
A |
11: 30,063,906 (GRCm39) |
I1971F |
possibly damaging |
Het |
Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
Tiam1 |
G |
A |
16: 89,695,037 (GRCm39) |
T140M |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn1r168 |
G |
T |
7: 23,240,487 (GRCm39) |
V115F |
possibly damaging |
Het |
Wars2 |
G |
A |
3: 99,094,965 (GRCm39) |
V87I |
probably benign |
Het |
Zdhhc14 |
T |
A |
17: 5,736,031 (GRCm39) |
C170S |
probably damaging |
Het |
Zfp113 |
C |
T |
5: 138,143,296 (GRCm39) |
C318Y |
possibly damaging |
Het |
Zfp367 |
A |
G |
13: 64,300,482 (GRCm39) |
S108P |
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 |
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 |
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'- GATCACTCACCTACTTTGGGG -3'
(R):5'- GCCAGGTTCAGCTTTCCATTAAC -3'
Sequencing Primer
(F):5'- TCACTCACCTACTTTGGGGAAAATAC -3'
(R):5'- CCATTGTTCCGTGAAGATAAGGC -3'
|
Posted On |
2020-07-28 |