Incidental Mutation 'R4592:Tmf1'
ID |
342893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmf1
|
Ensembl Gene |
ENSMUSG00000030059 |
Gene Name |
TATA element modulatory factor 1 |
Synonyms |
LOC232286, 7030402D04Rik |
MMRRC Submission |
041808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R4592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
97129958-97156083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97150361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 449
(V449I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095664]
[ENSMUST00000124173]
|
AlphaFold |
B9EKI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095664
AA Change: V449I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093325 Gene: ENSMUSG00000030059 AA Change: V449I
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
AA Change: V449I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120093 Gene: ENSMUSG00000030059 AA Change: V449I
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 |
noncoding transcript
Transcript: ENSMUST00000204190
|
Meta Mutation Damage Score |
0.0676 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,457,164 (GRCm39) |
V161E |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,388,629 (GRCm39) |
V521A |
possibly damaging |
Het |
Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
Casp12 |
T |
C |
9: 5,352,923 (GRCm39) |
|
probably benign |
Het |
Cenpf |
G |
A |
1: 189,411,230 (GRCm39) |
T318M |
probably damaging |
Het |
Cfap119 |
C |
T |
7: 127,184,663 (GRCm39) |
R172H |
probably benign |
Het |
Clcn2 |
T |
C |
16: 20,527,892 (GRCm39) |
K525E |
probably damaging |
Het |
Cntln |
A |
G |
4: 84,889,419 (GRCm39) |
T301A |
probably benign |
Het |
Crat |
T |
C |
2: 30,305,378 (GRCm39) |
|
probably benign |
Het |
Cul5 |
A |
G |
9: 53,545,027 (GRCm39) |
|
probably benign |
Het |
Cxcl14 |
A |
T |
13: 56,443,708 (GRCm39) |
I34N |
probably damaging |
Het |
Cyp2b19 |
A |
G |
7: 26,470,819 (GRCm39) |
I487V |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,386,690 (GRCm39) |
F446I |
probably damaging |
Het |
D430041D05Rik |
T |
A |
2: 104,063,824 (GRCm39) |
M659L |
possibly damaging |
Het |
Dclk3 |
T |
C |
9: 111,296,963 (GRCm39) |
F169S |
probably damaging |
Het |
Ddx52 |
T |
C |
11: 83,848,306 (GRCm39) |
I532T |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,226,023 (GRCm39) |
D352G |
probably damaging |
Het |
Eif4g2 |
T |
C |
7: 110,677,509 (GRCm39) |
E174G |
probably damaging |
Het |
Enpp6 |
G |
T |
8: 47,546,067 (GRCm39) |
V386L |
probably damaging |
Het |
Entr1 |
C |
A |
2: 26,278,909 (GRCm39) |
|
probably benign |
Het |
Eps15l1 |
T |
C |
8: 73,095,238 (GRCm39) |
D904G |
probably damaging |
Het |
Esrrb |
A |
G |
12: 86,565,604 (GRCm39) |
Y356C |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,291,509 (GRCm39) |
S619T |
possibly damaging |
Het |
Fndc7 |
A |
T |
3: 108,766,218 (GRCm39) |
C716S |
probably damaging |
Het |
Gm26996 |
T |
A |
6: 130,556,448 (GRCm39) |
|
noncoding transcript |
Het |
Grik2 |
A |
T |
10: 49,298,711 (GRCm39) |
F50I |
possibly damaging |
Het |
Guf1 |
T |
C |
5: 69,723,786 (GRCm39) |
V367A |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,188,684 (GRCm39) |
V55A |
probably benign |
Het |
Impg1 |
T |
A |
9: 80,322,907 (GRCm39) |
I33F |
probably benign |
Het |
Ltbp4 |
A |
C |
7: 27,024,608 (GRCm39) |
V674G |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,947,772 (GRCm39) |
L529H |
probably damaging |
Het |
Negr1 |
T |
C |
3: 156,914,023 (GRCm39) |
|
probably benign |
Het |
Neurog3 |
A |
G |
10: 61,969,599 (GRCm39) |
T25A |
probably damaging |
Het |
Or10v1 |
T |
C |
19: 11,874,126 (GRCm39) |
V247A |
probably benign |
Het |
Or4a69 |
T |
A |
2: 89,313,100 (GRCm39) |
K126N |
probably damaging |
Het |
Or51h1 |
A |
C |
7: 102,308,685 (GRCm39) |
Y219S |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,455 (GRCm39) |
T160A |
probably benign |
Het |
Pax8 |
T |
A |
2: 24,333,201 (GRCm39) |
|
probably benign |
Het |
Pcsk6 |
A |
C |
7: 65,581,480 (GRCm39) |
I254L |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,404,942 (GRCm39) |
K389R |
probably benign |
Het |
Rab3gap1 |
C |
A |
1: 127,852,996 (GRCm39) |
|
probably benign |
Het |
Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
Rptor |
A |
G |
11: 119,689,666 (GRCm39) |
D321G |
probably null |
Het |
Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
Slc23a3 |
T |
G |
1: 75,105,200 (GRCm39) |
N456T |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
Smarcd3 |
T |
C |
5: 24,797,802 (GRCm39) |
I467V |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,874 (GRCm39) |
A472V |
probably damaging |
Het |
Spmap1 |
A |
G |
11: 97,662,441 (GRCm39) |
S144P |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Stom |
C |
T |
2: 35,213,758 (GRCm39) |
G80D |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,084,028 (GRCm39) |
Y1915N |
possibly damaging |
Het |
Triobp |
C |
T |
15: 78,851,295 (GRCm39) |
A483V |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,265,799 (GRCm39) |
|
probably null |
Het |
Vmn2r75 |
T |
G |
7: 85,815,494 (GRCm39) |
E123D |
probably benign |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
Zdbf2 |
T |
G |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
Zeb1os1 |
T |
C |
18: 5,525,375 (GRCm39) |
|
noncoding transcript |
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 |
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'- CGCTTCCATTTTAAAGCATCCAAG -3'
(R):5'- TTCTCAGGTAGATTCTGCCTAGTC -3'
Sequencing Primer
(F):5'- TTTTAAAGCATCCAAGTACAACGGC -3'
(R):5'- TCAGTGTGCAATCCTACCAGG -3'
|
Posted On |
2015-09-24 |