Incidental Mutation 'IGL01575:Tmf1'
ID |
91217 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmf1
|
Ensembl Gene |
ENSMUSG00000030059 |
Gene Name |
TATA element modulatory factor 1 |
Synonyms |
LOC232286, 7030402D04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
IGL01575
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
97129958-97156083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97152897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 392
(E392G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095664]
[ENSMUST00000124173]
|
AlphaFold |
B9EKI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095664
AA Change: E392G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093325 Gene: ENSMUSG00000030059 AA Change: E392G
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: E392G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120093 Gene: ENSMUSG00000030059 AA Change: E392G
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 |
|
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 |
Anapc2 |
C |
T |
2: 25,175,188 (GRCm39) |
|
probably benign |
Het |
Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
Boll |
A |
G |
1: 55,362,807 (GRCm39) |
|
probably null |
Het |
Cngb1 |
G |
A |
8: 95,991,148 (GRCm39) |
P226S |
possibly damaging |
Het |
Commd3 |
G |
A |
2: 18,679,528 (GRCm39) |
|
probably null |
Het |
Ddx46 |
C |
T |
13: 55,801,996 (GRCm39) |
|
probably benign |
Het |
Dmrtb1 |
A |
G |
4: 107,541,265 (GRCm39) |
I32T |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,466,979 (GRCm39) |
|
probably benign |
Het |
Dppa5a |
A |
G |
9: 78,275,062 (GRCm39) |
I80T |
possibly damaging |
Het |
Galntl6 |
T |
C |
8: 58,880,710 (GRCm39) |
|
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,793,103 (GRCm39) |
Y510H |
possibly damaging |
Het |
Idua |
G |
T |
5: 108,829,973 (GRCm39) |
R505L |
possibly damaging |
Het |
Ifna15 |
A |
G |
4: 88,476,044 (GRCm39) |
F147L |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,118,599 (GRCm39) |
S433P |
probably damaging |
Het |
Kcnc1 |
T |
C |
7: 46,077,523 (GRCm39) |
Y442H |
possibly damaging |
Het |
Kmt2d |
A |
G |
15: 98,744,736 (GRCm39) |
|
probably benign |
Het |
Mpp7 |
A |
G |
18: 7,403,365 (GRCm39) |
|
probably benign |
Het |
Or14c39 |
T |
C |
7: 86,344,501 (GRCm39) |
V279A |
probably benign |
Het |
Or5p64 |
A |
C |
7: 107,854,742 (GRCm39) |
V201G |
possibly damaging |
Het |
Or6c75 |
A |
G |
10: 129,337,436 (GRCm39) |
I228V |
probably benign |
Het |
Pam16l |
T |
C |
10: 43,400,411 (GRCm39) |
V55A |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,990,050 (GRCm39) |
L693S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,792,102 (GRCm39) |
N1263S |
probably damaging |
Het |
Rhbdl1 |
G |
T |
17: 26,055,112 (GRCm39) |
A32E |
possibly damaging |
Het |
Samd9l |
A |
G |
6: 3,376,734 (GRCm39) |
S176P |
possibly damaging |
Het |
Scn1a |
G |
T |
2: 66,103,580 (GRCm39) |
F1893L |
probably damaging |
Het |
Serpina3f |
C |
A |
12: 104,184,699 (GRCm39) |
P281Q |
probably damaging |
Het |
Slc35a1 |
G |
T |
4: 34,668,932 (GRCm39) |
Q294K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,435,976 (GRCm39) |
S1154N |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,938,871 (GRCm39) |
S726P |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,504,591 (GRCm39) |
E24V |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,021,626 (GRCm39) |
V1089A |
probably damaging |
Het |
Tspyl1 |
C |
A |
10: 34,159,086 (GRCm39) |
N270K |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,913,628 (GRCm39) |
V901D |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,224,031 (GRCm39) |
I764V |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,300,152 (GRCm39) |
V186A |
probably damaging |
Het |
Zdhhc18 |
A |
G |
4: 133,341,210 (GRCm39) |
V221A |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |