Incidental Mutation 'R4416:Tmf1'
ID |
326837 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmf1
|
Ensembl Gene |
ENSMUSG00000030059 |
Gene Name |
TATA element modulatory factor 1 |
Synonyms |
LOC232286, 7030402D04Rik |
MMRRC Submission |
041137-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R4416 (G1)
|
Quality Score |
135 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
97129958-97156083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97155949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 12
(F12L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095664]
[ENSMUST00000124173]
[ENSMUST00000164744]
[ENSMUST00000204056]
|
AlphaFold |
B9EKI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095664
AA Change: F12L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093325 Gene: ENSMUSG00000030059 AA Change: F12L
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 damaging
Transcript: ENSMUST00000124173
AA Change: F12L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120093 Gene: ENSMUSG00000030059 AA Change: F12L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164744
|
SMART Domains |
Protein: ENSMUSP00000130954 Gene: ENSMUSG00000030061
Domain | Start | End | E-Value | Type |
Pfam:ThiF
|
54 |
199 |
1.5e-41 |
PFAM |
Pfam:UBA_e1_thiolCys
|
202 |
248 |
8.7e-15 |
PFAM |
Pfam:UBACT
|
255 |
321 |
9e-25 |
PFAM |
E2_bind
|
360 |
448 |
1.02e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204056
|
SMART Domains |
Protein: ENSMUSP00000145309 Gene: ENSMUSG00000030061
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
56 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Fhip2a |
G |
T |
19: 57,373,829 (GRCm39) |
|
probably null |
Het |
Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,538,280 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rrm1 |
A |
G |
7: 102,097,008 (GRCm39) |
D96G |
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
Tmem63c |
C |
G |
12: 87,128,676 (GRCm39) |
T567R |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
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 |
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 |
R9490:Tmf1
|
UTSW |
6 |
97,137,227 (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'- GAAGACGCCTAGCAATTGGG -3'
(R):5'- GTTGAGAACGGCCATGAAGC -3'
Sequencing Primer
(F):5'- ACGCCTAGCAATTGGGGATCTG -3'
(R):5'- TGGTAACTAAGGGCTCCGCTC -3'
|
Posted On |
2015-07-07 |