Incidental Mutation 'R3499:Ttf1'
| ID |
273687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttf1
|
| Ensembl Gene |
ENSMUSG00000026803 |
| Gene Name |
transcription termination factor, RNA polymerase I |
| Synonyms |
|
| MMRRC Submission |
040662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R3499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28950274-28977668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28955499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 288
(S288P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100237]
|
| AlphaFold |
Q62187 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100237
AA Change: S288P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: S288P
| 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: ENSMUST00000142786
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430571L13Rik |
A |
T |
9: 107,219,678 (GRCm39) |
T44S |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ctif |
A |
T |
18: 75,744,828 (GRCm39) |
L92Q |
possibly damaging |
Het |
| Dnah11 |
C |
A |
12: 117,874,758 (GRCm39) |
D4036Y |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
G |
C |
6: 73,009,616 (GRCm39) |
A3725G |
probably benign |
Het |
| Ebag9 |
A |
G |
15: 44,493,528 (GRCm39) |
N117D |
probably benign |
Het |
| Elf4 |
C |
T |
X: 47,507,942 (GRCm39) |
E158K |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,593,093 (GRCm39) |
R444* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,980 (GRCm39) |
I1648K |
probably benign |
Het |
| Fndc1 |
C |
T |
17: 7,972,416 (GRCm39) |
M1505I |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,815 (GRCm39) |
D195G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ksr2 |
C |
A |
5: 117,827,640 (GRCm39) |
T473K |
probably damaging |
Het |
| Kxd1 |
T |
C |
8: 70,966,632 (GRCm39) |
|
probably null |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,098 (GRCm39) |
L52* |
probably null |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,661 (GRCm39) |
S25P |
probably benign |
Het |
| Nucb1 |
T |
C |
7: 45,148,300 (GRCm39) |
H171R |
probably benign |
Het |
| Or10d1c |
A |
G |
9: 38,893,761 (GRCm39) |
L193P |
probably damaging |
Het |
| Or4a15 |
A |
T |
2: 89,193,294 (GRCm39) |
F160I |
probably benign |
Het |
| Or56b35 |
G |
A |
7: 104,963,607 (GRCm39) |
C132Y |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,373 (GRCm39) |
F168L |
possibly damaging |
Het |
| Or8k18 |
A |
G |
2: 86,085,185 (GRCm39) |
M284T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,585,889 (GRCm39) |
I2476F |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ralgapa1 |
T |
G |
12: 55,741,928 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,721,253 (GRCm39) |
|
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,140,656 (GRCm39) |
D283G |
probably benign |
Het |
| Slc6a9 |
A |
G |
4: 117,714,000 (GRCm39) |
I105V |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,726,206 (GRCm39) |
T51A |
possibly damaging |
Het |
| Smyd5 |
T |
A |
6: 85,415,172 (GRCm39) |
L60H |
probably damaging |
Het |
| Spred1 |
A |
T |
2: 117,005,867 (GRCm39) |
M210L |
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,101,752 (GRCm39) |
|
probably null |
Het |
| Tab3 |
T |
C |
X: 84,658,727 (GRCm39) |
I418T |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,884,478 (GRCm39) |
E343V |
possibly damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,897 (GRCm39) |
I485N |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,330,894 (GRCm39) |
Y51* |
probably null |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Trip11 |
A |
G |
12: 101,859,953 (GRCm39) |
I307T |
possibly damaging |
Het |
| Zfp395 |
G |
T |
14: 65,628,742 (GRCm39) |
R198L |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACAGGAGAGCTGCCC -3'
(R):5'- GAGCAACAGACTTGTGCTTC -3'
Sequencing Primer
(F):5'- GCTGCCCGCTGCTAAGC -3'
(R):5'- GAGCAACAGACTTGTGCTTCTTTTTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation