Incidental Mutation 'R3611:Ubtfl1'
| ID |
269228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubtfl1
|
| Ensembl Gene |
ENSMUSG00000074502 |
| Gene Name |
upstream binding transcription factor, RNA polymerase I-like 1 |
| Synonyms |
B020006M18Rik, Hmgpi |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R3611 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
18315714-18322798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18320661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 63
(I63T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098973]
[ENSMUST00000164441]
[ENSMUST00000169398]
|
| AlphaFold |
Q3USZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098973
AA Change: I63T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: I63T
| 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 |
probably damaging
Transcript: ENSMUST00000164441
AA Change: I63T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: I63T
| 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 |
probably damaging
Transcript: ENSMUST00000169398
AA Change: I63T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: I63T
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,846,965 (GRCm39) |
T521M |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,974,427 (GRCm39) |
K345R |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,066,972 (GRCm39) |
W53R |
probably benign |
Het |
| Brd1 |
A |
G |
15: 88,585,147 (GRCm39) |
S896P |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,252,973 (GRCm39) |
S281P |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,675,116 (GRCm39) |
D601G |
probably damaging |
Het |
| Cntn3 |
C |
A |
6: 102,185,038 (GRCm39) |
V693L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,408 (GRCm39) |
V855A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,202,895 (GRCm39) |
M60V |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,085,591 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,734,752 (GRCm39) |
S268P |
probably benign |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,733,763 (GRCm39) |
|
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,380,613 (GRCm39) |
V608A |
probably benign |
Het |
| Macir |
T |
C |
1: 97,574,059 (GRCm39) |
E2G |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,120,632 (GRCm39) |
V501M |
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,013 (GRCm39) |
C65Y |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,053,867 (GRCm39) |
T186A |
probably benign |
Het |
| Rims4 |
T |
A |
2: 163,721,126 (GRCm39) |
I42F |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,705,197 (GRCm39) |
E700D |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,946,533 (GRCm39) |
V85A |
unknown |
Het |
| Srbd1 |
T |
C |
17: 86,410,355 (GRCm39) |
T526A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,268 (GRCm39) |
K270R |
possibly damaging |
Het |
| Zfp750 |
G |
A |
11: 121,402,981 (GRCm39) |
P589L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,159,848 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6449:Ubtfl1
|
UTSW |
9 |
18,320,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- TTCAAGCTGCTGTTGACCTG -3'
(R):5'- GGGTACATCTGACAGTATTTGGC -3'
Sequencing Primer
(F):5'- GACCTGTTTGCACTAATGACATCAC -3'
(R):5'- GGCTCTCTGTTCCTTGTAAAAGCG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation