Incidental Mutation 'IGL02148:Ttf1'
ID |
281858 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttf1
|
Ensembl Gene |
ENSMUSG00000026803 |
Gene Name |
transcription termination factor, RNA polymerase I |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
IGL02148
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28950274-28977668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28969438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 727
(F727L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100237]
|
AlphaFold |
Q62187 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100237
AA Change: F727L
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000097809 Gene: ENSMUSG00000026803 AA Change: F727L
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
13 |
67 |
1.04e-14 |
PROSPERO |
internal_repeat_1
|
85 |
142 |
1.04e-14 |
PROSPERO |
low complexity region
|
143 |
153 |
N/A |
INTRINSIC |
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
low complexity region
|
274 |
293 |
N/A |
INTRINSIC |
low complexity region
|
350 |
387 |
N/A |
INTRINSIC |
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
low complexity region
|
451 |
461 |
N/A |
INTRINSIC |
Blast:SANT
|
508 |
585 |
8e-28 |
BLAST |
SANT
|
589 |
636 |
2.37e-6 |
SMART |
SANT
|
638 |
720 |
1.8e-6 |
SMART |
low complexity region
|
805 |
819 |
N/A |
INTRINSIC |
low complexity region
|
842 |
857 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142786
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
C |
T |
4: 63,300,716 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,733,469 (GRCm39) |
V663A |
possibly damaging |
Het |
Cdh13 |
A |
G |
8: 119,925,697 (GRCm39) |
D355G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,315,983 (GRCm39) |
|
probably benign |
Het |
Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
Dclk1 |
T |
A |
3: 55,407,520 (GRCm39) |
V233D |
probably damaging |
Het |
Ddx59 |
T |
C |
1: 136,361,565 (GRCm39) |
S477P |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,353,748 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,045,835 (GRCm39) |
L453P |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,064,044 (GRCm39) |
H380R |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,669,298 (GRCm39) |
M51V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,594 (GRCm39) |
M387V |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,302 (GRCm39) |
L1522S |
probably benign |
Het |
Gdf9 |
T |
A |
11: 53,327,569 (GRCm39) |
M175K |
probably benign |
Het |
Gm20547 |
C |
T |
17: 35,079,524 (GRCm39) |
D243N |
probably benign |
Het |
Gramd1b |
T |
A |
9: 40,227,060 (GRCm39) |
D299V |
probably damaging |
Het |
Gsg1l |
G |
T |
7: 125,522,671 (GRCm39) |
Q186K |
possibly damaging |
Het |
H2bl1 |
A |
T |
13: 99,120,691 (GRCm39) |
F112I |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,472,648 (GRCm39) |
|
probably null |
Het |
Kcnh5 |
A |
G |
12: 74,944,426 (GRCm39) |
L941P |
possibly damaging |
Het |
Lrrc8d |
A |
G |
5: 105,960,253 (GRCm39) |
D221G |
possibly damaging |
Het |
Med19 |
T |
C |
2: 84,515,603 (GRCm39) |
F96L |
probably damaging |
Het |
Mei1 |
C |
A |
15: 81,976,912 (GRCm39) |
S589* |
probably null |
Het |
Myh15 |
G |
T |
16: 48,936,678 (GRCm39) |
D708Y |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,753 (GRCm39) |
|
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,566 (GRCm39) |
Y276N |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,950,011 (GRCm39) |
C306Y |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,607,369 (GRCm39) |
K1279E |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,798,810 (GRCm39) |
T369I |
probably damaging |
Het |
Plekha8 |
A |
G |
6: 54,592,271 (GRCm39) |
S32G |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,519,304 (GRCm39) |
Y22N |
probably benign |
Het |
Sema4g |
A |
G |
19: 44,984,908 (GRCm39) |
T113A |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,922,562 (GRCm39) |
M546T |
probably benign |
Het |
Slc27a5 |
A |
G |
7: 12,728,878 (GRCm39) |
V328A |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,688 (GRCm39) |
N78S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,555,388 (GRCm39) |
T179A |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,244,547 (GRCm39) |
I475T |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,400,488 (GRCm38) |
Y621C |
probably damaging |
Het |
Tufm |
T |
C |
7: 126,088,332 (GRCm39) |
L75P |
probably damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,796 (GRCm39) |
D146E |
probably damaging |
Het |
Usp15 |
G |
A |
10: 122,963,742 (GRCm39) |
T533I |
probably damaging |
Het |
Vmn1r113 |
A |
G |
7: 20,521,747 (GRCm39) |
T180A |
probably benign |
Het |
Vmn1r205 |
G |
T |
13: 22,776,395 (GRCm39) |
P236T |
probably damaging |
Het |
Vmn2r112 |
T |
G |
17: 22,838,013 (GRCm39) |
C825G |
probably damaging |
Het |
Zfp712 |
T |
A |
13: 67,190,222 (GRCm39) |
I102F |
probably damaging |
Het |
|
Other mutations in Ttf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Ttf1
|
APN |
2 |
28,963,895 (GRCm39) |
splice site |
probably benign |
|
IGL00916:Ttf1
|
APN |
2 |
28,960,054 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02631:Ttf1
|
APN |
2 |
28,959,912 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02658:Ttf1
|
APN |
2 |
28,964,023 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03057:Ttf1
|
APN |
2 |
28,961,357 (GRCm39) |
missense |
probably damaging |
0.98 |
R0026:Ttf1
|
UTSW |
2 |
28,961,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0047:Ttf1
|
UTSW |
2 |
28,974,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Ttf1
|
UTSW |
2 |
28,974,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0427:Ttf1
|
UTSW |
2 |
28,955,054 (GRCm39) |
missense |
probably benign |
0.00 |
R0466:Ttf1
|
UTSW |
2 |
28,955,419 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0834:Ttf1
|
UTSW |
2 |
28,963,962 (GRCm39) |
nonsense |
probably null |
|
R1548:Ttf1
|
UTSW |
2 |
28,955,150 (GRCm39) |
missense |
probably damaging |
0.96 |
R1672:Ttf1
|
UTSW |
2 |
28,957,164 (GRCm39) |
missense |
probably damaging |
0.98 |
R1696:Ttf1
|
UTSW |
2 |
28,960,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Ttf1
|
UTSW |
2 |
28,964,796 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2000:Ttf1
|
UTSW |
2 |
28,955,197 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2126:Ttf1
|
UTSW |
2 |
28,961,357 (GRCm39) |
missense |
probably damaging |
0.98 |
R2426:Ttf1
|
UTSW |
2 |
28,957,197 (GRCm39) |
missense |
probably damaging |
0.98 |
R2967:Ttf1
|
UTSW |
2 |
28,955,395 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3499:Ttf1
|
UTSW |
2 |
28,955,499 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3963:Ttf1
|
UTSW |
2 |
28,954,816 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4342:Ttf1
|
UTSW |
2 |
28,955,488 (GRCm39) |
missense |
probably benign |
0.01 |
R4627:Ttf1
|
UTSW |
2 |
28,955,172 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4676:Ttf1
|
UTSW |
2 |
28,964,606 (GRCm39) |
missense |
probably damaging |
0.96 |
R4907:Ttf1
|
UTSW |
2 |
28,954,668 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4909:Ttf1
|
UTSW |
2 |
28,954,668 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4926:Ttf1
|
UTSW |
2 |
28,954,668 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4927:Ttf1
|
UTSW |
2 |
28,954,668 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5746:Ttf1
|
UTSW |
2 |
28,955,754 (GRCm39) |
missense |
probably damaging |
0.96 |
R5948:Ttf1
|
UTSW |
2 |
28,963,932 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6911:Ttf1
|
UTSW |
2 |
28,954,863 (GRCm39) |
missense |
probably benign |
0.41 |
R7909:Ttf1
|
UTSW |
2 |
28,955,471 (GRCm39) |
missense |
probably benign |
0.00 |
R8141:Ttf1
|
UTSW |
2 |
28,957,238 (GRCm39) |
nonsense |
probably null |
|
R8264:Ttf1
|
UTSW |
2 |
28,954,689 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8863:Ttf1
|
UTSW |
2 |
28,969,492 (GRCm39) |
critical splice donor site |
probably null |
|
R9094:Ttf1
|
UTSW |
2 |
28,957,080 (GRCm39) |
missense |
probably benign |
0.15 |
R9281:Ttf1
|
UTSW |
2 |
28,955,902 (GRCm39) |
missense |
probably benign |
0.01 |
R9318:Ttf1
|
UTSW |
2 |
28,964,666 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9440:Ttf1
|
UTSW |
2 |
28,955,709 (GRCm39) |
missense |
probably benign |
0.41 |
R9483:Ttf1
|
UTSW |
2 |
28,969,492 (GRCm39) |
critical splice donor site |
probably null |
|
X0066:Ttf1
|
UTSW |
2 |
28,964,787 (GRCm39) |
missense |
probably benign |
0.05 |
Z1176:Ttf1
|
UTSW |
2 |
28,961,349 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ttf1
|
UTSW |
2 |
28,955,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |