Incidental Mutation 'R9490:Tmf1'
| ID |
716887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmf1
|
| Ensembl Gene |
ENSMUSG00000030059 |
| Gene Name |
TATA element modulatory factor 1 |
| Synonyms |
LOC232286, 7030402D04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R9490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
97129958-97156083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97137227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 910
(T910A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095664]
[ENSMUST00000124173]
|
| AlphaFold |
B9EKI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095664
AA Change: T910A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: T910A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
443 |
536 |
N/A |
INTRINSIC |
|
Pfam:TMF_DNA_bd
|
540 |
613 |
5e-24 |
PFAM |
|
low complexity region
|
697 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
821 |
N/A |
INTRINSIC |
|
coiled coil region
|
823 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
937 |
N/A |
INTRINSIC |
|
Pfam:TMF_TATA_bd
|
972 |
1085 |
1.5e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124173
|
| SMART Domains |
Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
443 |
536 |
N/A |
INTRINSIC |
|
Pfam:TMF_DNA_bd
|
540 |
613 |
1.4e-24 |
PFAM |
|
low complexity region
|
697 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
732 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with decreased testis weight, globozoospermia, absent acrosome, asthenozoospermia, and abnormal sperm midpiece morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,834,601 (GRCm39) |
D167G |
probably benign |
Het |
| Arhgef37 |
G |
T |
18: 61,641,907 (GRCm39) |
P154Q |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,312,486 (GRCm39) |
S320C |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,505,901 (GRCm39) |
T21K |
unknown |
Het |
| Ctcfl |
A |
T |
2: 172,960,548 (GRCm39) |
Y12N |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,390,727 (GRCm39) |
E13G |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,871,092 (GRCm39) |
Y443H |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,589,582 (GRCm39) |
T492S |
possibly damaging |
Het |
| Edil3 |
G |
A |
13: 89,347,591 (GRCm39) |
C382Y |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,555,416 (GRCm39) |
K1142E |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,723,815 (GRCm39) |
T275S |
possibly damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,060 (GRCm39) |
V707A |
possibly damaging |
Het |
| Gm7298 |
G |
A |
6: 121,751,083 (GRCm39) |
R720H |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,311,518 (GRCm39) |
T1253S |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,788,203 (GRCm39) |
N14S |
probably benign |
Het |
| Ldhc |
G |
A |
7: 46,519,184 (GRCm39) |
V136I |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,501 (GRCm39) |
S134G |
probably benign |
Het |
| Map3k5 |
T |
C |
10: 20,007,797 (GRCm39) |
S1209P |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,986,764 (GRCm39) |
K101E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,568,149 (GRCm39) |
R1457* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,425,497 (GRCm39) |
V4714A |
probably benign |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,628,525 (GRCm39) |
F170S |
probably damaging |
Het |
| Pip5kl1 |
C |
T |
2: 32,466,667 (GRCm39) |
P12L |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,719,606 (GRCm39) |
N253I |
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,053,227 (GRCm39) |
P263S |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,354,065 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
C |
T |
19: 4,247,547 (GRCm39) |
G200R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,350 (GRCm39) |
T1354A |
probably benign |
Het |
| Rere |
A |
G |
4: 150,516,040 (GRCm39) |
D111G |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,284 (GRCm39) |
T122S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a2 |
C |
G |
18: 61,331,881 (GRCm39) |
V517L |
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,961,641 (GRCm39) |
K195R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,928,867 (GRCm39) |
D343V |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,245,360 (GRCm39) |
V1457A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,078,716 (GRCm39) |
V862A |
probably benign |
Het |
|
| Other mutations in Tmf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Tmf1
|
APN |
6 |
97,153,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00846:Tmf1
|
APN |
6 |
97,150,277 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01575:Tmf1
|
APN |
6 |
97,152,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01922:Tmf1
|
APN |
6 |
97,153,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02550:Tmf1
|
APN |
6 |
97,135,522 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02675:Tmf1
|
APN |
6 |
97,141,003 (GRCm39) |
splice site |
probably benign |
|
|
IGL02985:Tmf1
|
APN |
6 |
97,153,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03324:Tmf1
|
APN |
6 |
97,140,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
caddy
|
UTSW |
6 |
97,138,408 (GRCm39) |
nonsense |
probably null |
|
|
R0028:Tmf1
|
UTSW |
6 |
97,135,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Tmf1
|
UTSW |
6 |
97,147,345 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0325:Tmf1
|
UTSW |
6 |
97,153,465 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0420:Tmf1
|
UTSW |
6 |
97,153,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Tmf1
|
UTSW |
6 |
97,153,453 (GRCm39) |
missense |
probably benign |
|
|
R0825:Tmf1
|
UTSW |
6 |
97,152,956 (GRCm39) |
missense |
probably benign |
|
|
R0827:Tmf1
|
UTSW |
6 |
97,135,011 (GRCm39) |
nonsense |
probably null |
|
|
R0839:Tmf1
|
UTSW |
6 |
97,153,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Tmf1
|
UTSW |
6 |
97,150,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Tmf1
|
UTSW |
6 |
97,138,440 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2274:Tmf1
|
UTSW |
6 |
97,140,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Tmf1
|
UTSW |
6 |
97,149,292 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3953:Tmf1
|
UTSW |
6 |
97,153,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3955:Tmf1
|
UTSW |
6 |
97,153,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4398:Tmf1
|
UTSW |
6 |
97,155,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4416:Tmf1
|
UTSW |
6 |
97,155,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Tmf1
|
UTSW |
6 |
97,149,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4592:Tmf1
|
UTSW |
6 |
97,150,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4669:Tmf1
|
UTSW |
6 |
97,147,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5214:Tmf1
|
UTSW |
6 |
97,144,253 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5352:Tmf1
|
UTSW |
6 |
97,153,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Tmf1
|
UTSW |
6 |
97,135,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Tmf1
|
UTSW |
6 |
97,150,364 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6806:Tmf1
|
UTSW |
6 |
97,138,408 (GRCm39) |
nonsense |
probably null |
|
|
R6837:Tmf1
|
UTSW |
6 |
97,153,542 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6853:Tmf1
|
UTSW |
6 |
97,145,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6887:Tmf1
|
UTSW |
6 |
97,153,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Tmf1
|
UTSW |
6 |
97,133,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Tmf1
|
UTSW |
6 |
97,153,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Tmf1
|
UTSW |
6 |
97,145,061 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7573:Tmf1
|
UTSW |
6 |
97,135,455 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7809:Tmf1
|
UTSW |
6 |
97,138,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7833:Tmf1
|
UTSW |
6 |
97,138,372 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8728:Tmf1
|
UTSW |
6 |
97,133,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Tmf1
|
UTSW |
6 |
97,152,738 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9425:Tmf1
|
UTSW |
6 |
97,149,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9436:Tmf1
|
UTSW |
6 |
97,153,617 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9454:Tmf1
|
UTSW |
6 |
97,155,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9458:Tmf1
|
UTSW |
6 |
97,153,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9544:Tmf1
|
UTSW |
6 |
97,147,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9558:Tmf1
|
UTSW |
6 |
97,147,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9560:Tmf1
|
UTSW |
6 |
97,147,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9595:Tmf1
|
UTSW |
6 |
97,135,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGATCAATTTGAATGCACTCCAG -3'
(R):5'- ACTGCTGTGGAGCTAAGCTG -3'
Sequencing Primer
(F):5'- GTGACTTCAAACCTGTTCTCATGGAG -3'
(R):5'- GCTAAGCTGGGTGAGGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation