Incidental Mutation 'R8264:Ttf1'
| ID |
639713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttf1
|
| Ensembl Gene |
ENSMUSG00000026803 |
| Gene Name |
transcription termination factor, RNA polymerase I |
| Synonyms |
|
| MMRRC Submission |
067689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R8264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28950274-28977668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28954689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 18
(K18E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100237]
|
| AlphaFold |
Q62187 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100237
AA Change: K18E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: K18E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,543 (GRCm39) |
C911S |
probably damaging |
Het |
| Abcc4 |
T |
A |
14: 118,832,254 (GRCm39) |
N792I |
possibly damaging |
Het |
| Acacb |
A |
T |
5: 114,345,427 (GRCm39) |
H960L |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,092,873 (GRCm39) |
T162A |
possibly damaging |
Het |
| Cacna1g |
T |
C |
11: 94,364,392 (GRCm39) |
S18G |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,300 (GRCm39) |
I348N |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,016,648 (GRCm39) |
R12Q |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,795,971 (GRCm39) |
S136P |
possibly damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,357 (GRCm39) |
M2896K |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,148,755 (GRCm39) |
T215A |
probably damaging |
Het |
| Esyt2 |
A |
C |
12: 116,329,540 (GRCm39) |
Q699H |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,979,393 (GRCm39) |
T204A |
possibly damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,362,339 (GRCm39) |
S294P |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Galnt10 |
A |
G |
11: 57,673,032 (GRCm39) |
I463V |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,712 (GRCm39) |
F480L |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,506,709 (GRCm39) |
V11A |
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,593 (GRCm39) |
T191A |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,323,086 (GRCm39) |
|
silent |
Het |
| Izumo4 |
G |
T |
10: 80,538,572 (GRCm39) |
G8V |
|
Het |
| Klk1b5 |
T |
A |
7: 43,869,454 (GRCm39) |
L178H |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,343,218 (GRCm39) |
N85D |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,721 (GRCm39) |
I116R |
possibly damaging |
Het |
| Lpar5 |
T |
A |
6: 125,058,465 (GRCm39) |
V62D |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,528 (GRCm39) |
I303F |
|
Het |
| Mymk |
A |
G |
2: 26,957,868 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
G |
A |
15: 25,800,195 (GRCm39) |
V1424M |
probably damaging |
Het |
| Myof |
T |
G |
19: 37,909,881 (GRCm39) |
Q1528P |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 27,006,038 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,884,738 (GRCm39) |
Y500N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,538 (GRCm39) |
D180G |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,543 (GRCm39) |
Y835C |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,711,030 (GRCm39) |
E95G |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,138 (GRCm39) |
N303K |
possibly damaging |
Het |
| Pnn |
C |
T |
12: 59,119,363 (GRCm39) |
H649Y |
unknown |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,508 (GRCm39) |
Q764* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,175,370 (GRCm39) |
M1762K |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 51,980,290 (GRCm39) |
A496T |
noncoding transcript |
Het |
| Rnase13 |
A |
T |
14: 52,159,914 (GRCm39) |
V75D |
probably damaging |
Het |
| Sema3c |
G |
A |
5: 17,881,537 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
C |
G |
1: 36,591,966 (GRCm39) |
G266R |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,376 (GRCm39) |
D87V |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,290 (GRCm39) |
Y421C |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,271,867 (GRCm39) |
V188A |
probably benign |
Het |
| Srms |
A |
G |
2: 180,854,343 (GRCm39) |
Y75H |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,077 (GRCm39) |
G208S |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,072,390 (GRCm39) |
S2646P |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,042,330 (GRCm39) |
I1130V |
probably benign |
Het |
| Unc5b |
G |
T |
10: 60,604,113 (GRCm39) |
T827K |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,302,969 (GRCm39) |
T1672S |
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 |
|
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 |
|
|
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'- GTGGATCTCACTCAACTTCCTG -3'
(R):5'- AGGCCACTCACTCTCTAAGG -3'
Sequencing Primer
(F):5'- CTGTGTATTTATGTTCATGACTCCAG -3'
(R):5'- CTCTAAGGTCTCCTGGGCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation