Incidental Mutation 'R8863:Ttf1'
ID |
675752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttf1
|
Ensembl Gene |
ENSMUSG00000026803 |
Gene Name |
transcription termination factor, RNA polymerase I |
Synonyms |
|
MMRRC Submission |
068679-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
R8863 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
28950274-28977668 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 28969492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100237]
[ENSMUST00000100237]
|
AlphaFold |
Q62187 |
Predicted Effect |
probably null
Transcript: ENSMUST00000100237
|
SMART Domains |
Protein: ENSMUSP00000097809 Gene: ENSMUSG00000026803
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 |
probably null
Transcript: ENSMUST00000100237
|
SMART Domains |
Protein: ENSMUSP00000097809 Gene: ENSMUSG00000026803
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: 99.3%
- 20x: 97.3%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
G |
7: 127,836,123 (GRCm39) |
S157P |
possibly damaging |
Het |
Aasdhppt |
C |
A |
9: 4,309,424 (GRCm39) |
A5S |
possibly damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,907,042 (GRCm39) |
L14P |
probably benign |
Het |
Asb16 |
T |
C |
11: 102,168,058 (GRCm39) |
Y373H |
probably damaging |
Het |
Axin1 |
T |
C |
17: 26,362,375 (GRCm39) |
S240P |
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,987,088 (GRCm39) |
I505V |
possibly damaging |
Het |
Camk2g |
A |
G |
14: 20,810,244 (GRCm39) |
L305P |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,535,211 (GRCm39) |
K156E |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,212,613 (GRCm39) |
Y1600* |
probably null |
Het |
Cyp2c29 |
A |
G |
19: 39,261,810 (GRCm39) |
Q16R |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,774,666 (GRCm39) |
V221E |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,831,006 (GRCm39) |
D73G |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,591,262 (GRCm39) |
E125G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igfbp3 |
A |
G |
11: 7,163,568 (GRCm39) |
C75R |
probably damaging |
Het |
Itgb4 |
T |
A |
11: 115,875,898 (GRCm39) |
C478* |
probably null |
Het |
L3mbtl4 |
T |
A |
17: 68,986,419 (GRCm39) |
C488S |
probably benign |
Het |
Lysmd4 |
T |
C |
7: 66,873,493 (GRCm39) |
S43P |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,962,815 (GRCm39) |
K167E |
probably damaging |
Het |
Mpl |
C |
A |
4: 118,314,602 (GRCm39) |
V23F |
|
Het |
Muc4 |
A |
T |
16: 32,570,280 (GRCm39) |
I447F |
possibly damaging |
Het |
Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
Ncf2 |
A |
G |
1: 152,711,864 (GRCm39) |
*526W |
probably null |
Het |
Oas1a |
C |
T |
5: 121,043,943 (GRCm39) |
G63D |
probably damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,780 (GRCm39) |
Y125F |
probably damaging |
Het |
Or5ac15 |
G |
T |
16: 58,939,712 (GRCm39) |
C240* |
probably null |
Het |
Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,631,383 (GRCm39) |
N409S |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,433,382 (GRCm39) |
Q3421* |
probably null |
Het |
Plekha7 |
T |
A |
7: 115,753,875 (GRCm39) |
D664V |
probably damaging |
Het |
Pole |
T |
C |
5: 110,437,233 (GRCm39) |
M66T |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,265,480 (GRCm39) |
|
probably null |
Het |
Pop4 |
G |
A |
7: 37,962,649 (GRCm39) |
A205V |
possibly damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,521,030 (GRCm39) |
E590D |
probably damaging |
Het |
Ptpn6 |
T |
A |
6: 124,709,309 (GRCm39) |
I96F |
probably damaging |
Het |
Rfk |
T |
A |
19: 17,372,590 (GRCm39) |
N37K |
probably benign |
Het |
Syne1 |
G |
T |
10: 5,049,527 (GRCm39) |
Q7535K |
probably damaging |
Het |
Tcf15 |
A |
T |
2: 151,986,023 (GRCm39) |
I160F |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem160 |
T |
C |
7: 16,186,889 (GRCm39) |
M1T |
probably null |
Het |
Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
Trnt1 |
T |
C |
6: 106,751,443 (GRCm39) |
F140S |
probably damaging |
Het |
Vmn1r172 |
A |
T |
7: 23,359,210 (GRCm39) |
I32F |
probably benign |
Het |
Vwc2l |
T |
A |
1: 70,768,063 (GRCm39) |
N42K |
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 |
|
R8264:Ttf1
|
UTSW |
2 |
28,954,689 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- CCCAGTGAATGAGAGCAATTTATG -3'
(R):5'- GGCGACAAGTAACTTCTCTTTC -3'
Sequencing Primer
(F):5'- TGCTGGTAACCTGAACTCAG -3'
(R):5'- CTCAGCCTCATTCAGAGTTGG -3'
|
Posted On |
2021-07-15 |