Incidental Mutation 'IGL02550:Tmf1'
| ID |
298011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmf1
|
| Ensembl Gene |
ENSMUSG00000030059 |
| Gene Name |
TATA element modulatory factor 1 |
| Synonyms |
7030402D04Rik, LOC232286 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
IGL02550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
97152997-97179122 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97158561 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 918
(D918G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095664]
[ENSMUST00000124173]
|
| AlphaFold |
B9EKI3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095664
AA Change: D918G
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D918G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204190
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109I03Rik |
T |
G |
15: 74,880,755 (GRCm38) |
H24P |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,845,166 (GRCm38) |
|
probably null |
Het |
| Acer3 |
G |
A |
7: 98,223,978 (GRCm38) |
T171I |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,573,284 (GRCm38) |
P117S |
probably damaging |
Het |
| Anxa2 |
A |
G |
9: 69,467,306 (GRCm38) |
S22G |
probably benign |
Het |
| Arrb2 |
T |
C |
11: 70,436,870 (GRCm38) |
I120T |
probably damaging |
Het |
| Atp11a |
G |
T |
8: 12,816,997 (GRCm38) |
K141N |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,642,009 (GRCm38) |
V762A |
probably benign |
Het |
| Ccdc61 |
A |
T |
7: 18,893,302 (GRCm38) |
S48T |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,529,063 (GRCm38) |
M82V |
probably null |
Het |
| Cobll1 |
A |
G |
2: 65,107,863 (GRCm38) |
S359P |
probably damaging |
Het |
| Ctnnbl1 |
C |
A |
2: 157,884,135 (GRCm38) |
D465E |
probably benign |
Het |
| Def6 |
A |
T |
17: 28,228,261 (GRCm38) |
E622V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,717,575 (GRCm38) |
Y678H |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,698,312 (GRCm38) |
M1K |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,522,093 (GRCm38) |
K216E |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,022,960 (GRCm38) |
D545G |
probably benign |
Het |
| Galnt12 |
A |
T |
4: 47,104,126 (GRCm38) |
D128V |
possibly damaging |
Het |
| Gm1110 |
C |
T |
9: 26,881,834 (GRCm38) |
V549I |
probably benign |
Het |
| Gm1966 |
A |
T |
7: 106,601,639 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7361 |
A |
G |
5: 26,261,122 (GRCm38) |
I161V |
possibly damaging |
Het |
| Gsn |
T |
C |
2: 35,282,607 (GRCm38) |
|
probably benign |
Het |
| Il16 |
T |
A |
7: 83,674,496 (GRCm38) |
Q282L |
possibly damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,055 (GRCm38) |
D67G |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,804,498 (GRCm38) |
L515P |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,917,170 (GRCm38) |
F480S |
probably benign |
Het |
| Klc4 |
C |
A |
17: 46,636,910 (GRCm38) |
|
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,467,705 (GRCm38) |
C135F |
possibly damaging |
Het |
| Mboat7 |
G |
T |
7: 3,683,906 (GRCm38) |
|
probably null |
Het |
| Myo1f |
G |
A |
17: 33,588,142 (GRCm38) |
D522N |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,580,150 (GRCm38) |
|
probably benign |
Het |
| Nbea |
C |
A |
3: 56,019,414 (GRCm38) |
M789I |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,177,447 (GRCm38) |
D602G |
probably benign |
Het |
| Ncaph2 |
A |
T |
15: 89,369,861 (GRCm38) |
K344* |
probably null |
Het |
| Nek2 |
A |
G |
1: 191,822,259 (GRCm38) |
Y70C |
probably damaging |
Het |
| Olfr1277 |
T |
A |
2: 111,270,004 (GRCm38) |
D121V |
probably damaging |
Het |
| Olfr1281 |
T |
C |
2: 111,328,500 (GRCm38) |
L27P |
probably damaging |
Het |
| Olfr31 |
T |
C |
14: 14,328,423 (GRCm38) |
L104P |
possibly damaging |
Het |
| Olfr857 |
C |
A |
9: 19,713,047 (GRCm38) |
F73L |
possibly damaging |
Het |
| Olfr955 |
T |
A |
9: 39,470,546 (GRCm38) |
Y60F |
probably benign |
Het |
| Olfr992 |
G |
A |
2: 85,399,822 (GRCm38) |
A237V |
probably damaging |
Het |
| Plcb3 |
T |
A |
19: 6,960,176 (GRCm38) |
K625* |
probably null |
Het |
| Plrg1 |
T |
C |
3: 83,061,123 (GRCm38) |
|
probably null |
Het |
| Ptpn12 |
A |
G |
5: 20,998,139 (GRCm38) |
V547A |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,448,411 (GRCm38) |
D748G |
probably damaging |
Het |
| Rcbtb2 |
A |
G |
14: 73,162,019 (GRCm38) |
E41G |
probably damaging |
Het |
| Rela |
G |
T |
19: 5,641,506 (GRCm38) |
R236L |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,871,862 (GRCm38) |
S188P |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,440,949 (GRCm38) |
K1666* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,943,465 (GRCm38) |
M40I |
probably benign |
Het |
| Smarca4 |
C |
A |
9: 21,686,122 (GRCm38) |
P1391Q |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,150,083 (GRCm38) |
N392S |
possibly damaging |
Het |
| Syt4 |
A |
G |
18: 31,444,193 (GRCm38) |
I36T |
probably damaging |
Het |
| Tgfbr2 |
A |
T |
9: 116,110,129 (GRCm38) |
M235K |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,374,485 (GRCm38) |
|
probably null |
Het |
| Tnfaip2 |
A |
G |
12: 111,446,101 (GRCm38) |
Y312C |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 112,104,354 (GRCm38) |
R1178C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,451,732 (GRCm38) |
I577N |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,096 (GRCm38) |
V953A |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,633,884 (GRCm38) |
F127S |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,540,863 (GRCm38) |
V192I |
probably damaging |
Het |
| Wnt9a |
C |
T |
11: 59,330,918 (GRCm38) |
T214I |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,229,329 (GRCm38) |
D693G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,387,039 (GRCm38) |
L5044P |
unknown |
Het |
| Zhx3 |
T |
C |
2: 160,781,296 (GRCm38) |
N317S |
probably damaging |
Het |
|
| Other mutations in Tmf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Tmf1
|
APN |
6 |
97,176,494 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00846:Tmf1
|
APN |
6 |
97,173,316 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01575:Tmf1
|
APN |
6 |
97,175,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01922:Tmf1
|
APN |
6 |
97,176,930 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02675:Tmf1
|
APN |
6 |
97,164,042 (GRCm38) |
splice site |
probably benign |
|
|
IGL02985:Tmf1
|
APN |
6 |
97,176,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03324:Tmf1
|
APN |
6 |
97,163,653 (GRCm38) |
missense |
probably damaging |
0.99 |
|
caddy
|
UTSW |
6 |
97,161,447 (GRCm38) |
nonsense |
probably null |
|
|
R0028:Tmf1
|
UTSW |
6 |
97,158,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0153:Tmf1
|
UTSW |
6 |
97,170,384 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0325:Tmf1
|
UTSW |
6 |
97,176,504 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0420:Tmf1
|
UTSW |
6 |
97,176,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0730:Tmf1
|
UTSW |
6 |
97,176,492 (GRCm38) |
missense |
probably benign |
|
|
R0825:Tmf1
|
UTSW |
6 |
97,175,995 (GRCm38) |
missense |
probably benign |
|
|
R0827:Tmf1
|
UTSW |
6 |
97,158,050 (GRCm38) |
nonsense |
probably null |
|
|
R0839:Tmf1
|
UTSW |
6 |
97,176,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1078:Tmf1
|
UTSW |
6 |
97,173,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1905:Tmf1
|
UTSW |
6 |
97,161,479 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2274:Tmf1
|
UTSW |
6 |
97,163,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3701:Tmf1
|
UTSW |
6 |
97,172,331 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3953:Tmf1
|
UTSW |
6 |
97,176,206 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3955:Tmf1
|
UTSW |
6 |
97,176,206 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4398:Tmf1
|
UTSW |
6 |
97,178,896 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4416:Tmf1
|
UTSW |
6 |
97,178,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4497:Tmf1
|
UTSW |
6 |
97,172,332 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4592:Tmf1
|
UTSW |
6 |
97,173,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4669:Tmf1
|
UTSW |
6 |
97,170,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5214:Tmf1
|
UTSW |
6 |
97,167,292 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5352:Tmf1
|
UTSW |
6 |
97,176,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5530:Tmf1
|
UTSW |
6 |
97,158,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5815:Tmf1
|
UTSW |
6 |
97,173,403 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6806:Tmf1
|
UTSW |
6 |
97,161,447 (GRCm38) |
nonsense |
probably null |
|
|
R6837:Tmf1
|
UTSW |
6 |
97,176,581 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6853:Tmf1
|
UTSW |
6 |
97,168,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6887:Tmf1
|
UTSW |
6 |
97,176,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7058:Tmf1
|
UTSW |
6 |
97,156,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7145:Tmf1
|
UTSW |
6 |
97,176,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7340:Tmf1
|
UTSW |
6 |
97,168,100 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7573:Tmf1
|
UTSW |
6 |
97,158,494 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7809:Tmf1
|
UTSW |
6 |
97,161,459 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7833:Tmf1
|
UTSW |
6 |
97,161,411 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8728:Tmf1
|
UTSW |
6 |
97,156,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9004:Tmf1
|
UTSW |
6 |
97,175,777 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9425:Tmf1
|
UTSW |
6 |
97,172,332 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9436:Tmf1
|
UTSW |
6 |
97,176,656 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9454:Tmf1
|
UTSW |
6 |
97,178,905 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9458:Tmf1
|
UTSW |
6 |
97,176,421 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9490:Tmf1
|
UTSW |
6 |
97,160,266 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9544:Tmf1
|
UTSW |
6 |
97,170,332 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9558:Tmf1
|
UTSW |
6 |
97,170,332 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9560:Tmf1
|
UTSW |
6 |
97,170,332 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9595:Tmf1
|
UTSW |
6 |
97,158,496 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation