Incidental Mutation 'R6449:Ubtfl1'
| ID |
519296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubtfl1
|
| Ensembl Gene |
ENSMUSG00000074502 |
| Gene Name |
upstream binding transcription factor, RNA polymerase I-like 1 |
| Synonyms |
B020006M18Rik, Hmgpi |
| MMRRC Submission |
044585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R6449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
18315714-18322798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18320925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 151
(I151N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098973]
[ENSMUST00000164441]
[ENSMUST00000169398]
|
| AlphaFold |
Q3USZ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098973
AA Change: I151N
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: I151N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
6 |
64 |
1e-17 |
BLAST |
|
HMG
|
100 |
170 |
5.61e-16 |
SMART |
|
HMG
|
224 |
292 |
3.79e-4 |
SMART |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164441
AA Change: I151N
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: I151N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
6 |
64 |
1e-17 |
BLAST |
|
HMG
|
100 |
170 |
5.61e-16 |
SMART |
|
HMG
|
224 |
292 |
3.79e-4 |
SMART |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169398
AA Change: I151N
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: I151N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
6 |
64 |
1e-17 |
BLAST |
|
HMG
|
100 |
170 |
5.61e-16 |
SMART |
|
HMG
|
224 |
292 |
3.79e-4 |
SMART |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,030,754 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
| Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
| Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
| Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,716,206 (GRCm39) |
V565F |
probably damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,493 (GRCm39) |
S229P |
possibly damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,458 (GRCm39) |
D191G |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,576,466 (GRCm39) |
T123A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
| Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,157 (GRCm39) |
F332I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
possibly damaging |
Het |
|
| Other mutations in Ubtfl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Ubtfl1
|
APN |
9 |
18,321,017 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02028:Ubtfl1
|
APN |
9 |
18,320,849 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0112:Ubtfl1
|
UTSW |
9 |
18,321,083 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0600:Ubtfl1
|
UTSW |
9 |
18,320,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Ubtfl1
|
UTSW |
9 |
18,321,209 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1511:Ubtfl1
|
UTSW |
9 |
18,321,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2007:Ubtfl1
|
UTSW |
9 |
18,320,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3611:Ubtfl1
|
UTSW |
9 |
18,320,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Ubtfl1
|
UTSW |
9 |
18,320,533 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4088:Ubtfl1
|
UTSW |
9 |
18,321,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4577:Ubtfl1
|
UTSW |
9 |
18,320,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Ubtfl1
|
UTSW |
9 |
18,320,487 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5224:Ubtfl1
|
UTSW |
9 |
18,321,326 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5284:Ubtfl1
|
UTSW |
9 |
18,320,741 (GRCm39) |
nonsense |
probably null |
|
|
R5965:Ubtfl1
|
UTSW |
9 |
18,320,838 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6261:Ubtfl1
|
UTSW |
9 |
18,320,592 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6951:Ubtfl1
|
UTSW |
9 |
18,320,873 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7130:Ubtfl1
|
UTSW |
9 |
18,321,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Ubtfl1
|
UTSW |
9 |
18,320,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Ubtfl1
|
UTSW |
9 |
18,320,782 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7718:Ubtfl1
|
UTSW |
9 |
18,320,527 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8171:Ubtfl1
|
UTSW |
9 |
18,320,523 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8789:Ubtfl1
|
UTSW |
9 |
18,321,609 (GRCm39) |
missense |
unknown |
|
|
R8811:Ubtfl1
|
UTSW |
9 |
18,321,459 (GRCm39) |
missense |
probably benign |
|
|
R8993:Ubtfl1
|
UTSW |
9 |
18,321,637 (GRCm39) |
missense |
|
|
|
R9536:Ubtfl1
|
UTSW |
9 |
18,320,537 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Ubtfl1
|
UTSW |
9 |
18,320,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCACACTGACAGAATTAGTGC -3'
(R):5'- TCTGAAGAAACTGTTCTGGGAG -3'
Sequencing Primer
(F):5'- AGTGCAAGAAGCCAAGTTTTC -3'
(R):5'- AAGAAACTGTTCTGGGAGATTCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation