Incidental Mutation 'IGL00916:Ttf1'
| ID |
26868 |
| 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 # |
IGL00916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28950274-28977668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28960054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 554
(N554S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100237]
|
| AlphaFold |
Q62187 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100237
AA Change: N554S
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: N554S
| 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: ENSMUST00000142786
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,851 (GRCm39) |
Q762L |
probably benign |
Het |
| Aldh1a1 |
T |
C |
19: 20,597,361 (GRCm39) |
V114A |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,833,960 (GRCm39) |
I459V |
probably benign |
Het |
| Atad5 |
C |
T |
11: 80,009,826 (GRCm39) |
P1199S |
probably damaging |
Het |
| Bmp10 |
T |
C |
6: 87,406,142 (GRCm39) |
F43S |
possibly damaging |
Het |
| Cd96 |
T |
C |
16: 45,861,675 (GRCm39) |
E505G |
probably benign |
Het |
| Eapp |
T |
C |
12: 54,739,593 (GRCm39) |
T75A |
possibly damaging |
Het |
| Emilin1 |
T |
C |
5: 31,071,246 (GRCm39) |
Y10H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,284,612 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,113,923 (GRCm39) |
I1089V |
possibly damaging |
Het |
| H6pd |
C |
A |
4: 150,078,925 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,238,548 (GRCm39) |
F544L |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,450,915 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ilrun |
A |
G |
17: 27,986,893 (GRCm39) |
Y278H |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,389 (GRCm39) |
E287G |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,461,252 (GRCm39) |
D735G |
probably damaging |
Het |
| Mast2 |
A |
T |
4: 116,184,830 (GRCm39) |
M240K |
possibly damaging |
Het |
| Mreg |
T |
A |
1: 72,203,291 (GRCm39) |
T96S |
probably benign |
Het |
| Mta2 |
A |
T |
19: 8,924,465 (GRCm39) |
M220L |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,528,719 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,939 (GRCm39) |
N699I |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,828,534 (GRCm39) |
I95S |
probably benign |
Het |
| Ndufa13 |
A |
G |
8: 70,347,069 (GRCm39) |
|
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,411,130 (GRCm39) |
|
probably benign |
Het |
| Parp8 |
T |
A |
13: 117,063,859 (GRCm39) |
I85F |
probably damaging |
Het |
| Rgs2 |
T |
A |
1: 143,877,967 (GRCm39) |
I78F |
probably damaging |
Het |
| Rpia |
C |
T |
6: 70,752,086 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
C |
10: 42,688,453 (GRCm39) |
S488P |
possibly damaging |
Het |
| Tfcp2 |
T |
G |
15: 100,418,559 (GRCm39) |
H201P |
probably damaging |
Het |
| Tnfaip2 |
T |
G |
12: 111,419,983 (GRCm39) |
I705R |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,940,877 (GRCm39) |
S351P |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,737,397 (GRCm39) |
N264Y |
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 |
|
|
IGL02148:Ttf1
|
APN |
2 |
28,969,438 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
2013-04-17 |
Incidental Mutation