Incidental Mutation 'R9436:Tmf1'
| ID |
713279 |
| 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 # |
R9436 (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 97153617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
| 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: D152G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093325
Gene: ENSMUSG00000030059
AA Change: D152G
| 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 |
possibly damaging
Transcript: ENSMUST00000124173
AA Change: D152G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120093
Gene: ENSMUSG00000030059
AA Change: D152G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,909,975 (GRCm39) |
T340A |
probably benign |
Het |
| Adamts2 |
G |
T |
11: 50,694,507 (GRCm39) |
R1098L |
probably benign |
Het |
| Add1 |
A |
T |
5: 34,763,273 (GRCm39) |
R154* |
probably null |
Het |
| Alpk1 |
A |
G |
3: 127,478,924 (GRCm39) |
V41A |
|
Het |
| Anapc1 |
T |
C |
2: 128,518,045 (GRCm39) |
T270A |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,694,041 (GRCm39) |
A84D |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,774,654 (GRCm39) |
C1412S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Chrm5 |
T |
C |
2: 112,309,824 (GRCm39) |
R431G |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,735,541 (GRCm39) |
C84* |
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,508,348 (GRCm39) |
E1842A |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,538,507 (GRCm39) |
Q393* |
probably null |
Het |
| Hinfp |
A |
T |
9: 44,209,276 (GRCm39) |
Y308N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,454,886 (GRCm39) |
D113G |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,761 (GRCm39) |
L392H |
probably damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,880 (GRCm39) |
M1I |
probably null |
Het |
| Krt17 |
T |
A |
11: 100,148,325 (GRCm39) |
D372V |
probably damaging |
Het |
| Mrtfb |
T |
A |
16: 13,223,151 (GRCm39) |
Y796* |
probably null |
Het |
| Myo3a |
T |
A |
2: 22,412,235 (GRCm39) |
Y751* |
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,782,276 (GRCm39) |
|
probably null |
Het |
| Nfkbib |
C |
A |
7: 28,465,800 (GRCm39) |
W16C |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,106 (GRCm39) |
V101A |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,483 (GRCm39) |
S437P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,336,969 (GRCm39) |
F64S |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,125,670 (GRCm39) |
H1155L |
|
Het |
| Rbp3 |
A |
G |
14: 33,677,234 (GRCm39) |
D394G |
possibly damaging |
Het |
| Rnmt |
T |
A |
18: 68,442,410 (GRCm39) |
V180E |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,947,300 (GRCm39) |
K5* |
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,575,963 (GRCm39) |
V652E |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,270,730 (GRCm39) |
W579R |
probably damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,257 (GRCm39) |
D51G |
possibly damaging |
Het |
| Smyd4 |
T |
A |
11: 75,293,017 (GRCm39) |
L649Q |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,374,602 (GRCm39) |
R954G |
possibly damaging |
Het |
| Sp4 |
T |
C |
12: 118,202,000 (GRCm39) |
E744G |
possibly damaging |
Het |
| Spag16 |
C |
T |
1: 69,892,539 (GRCm39) |
L107F |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,650,272 (GRCm39) |
D268G |
probably benign |
Het |
| Tat |
G |
T |
8: 110,718,492 (GRCm39) |
G85W |
probably damaging |
Het |
| Tchp |
G |
T |
5: 114,847,446 (GRCm39) |
E88D |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,775,633 (GRCm39) |
N369S |
possibly damaging |
Het |
| Ttc7 |
T |
C |
17: 87,600,320 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,772,263 (GRCm39) |
I2592M |
unknown |
Het |
| Unc80 |
T |
G |
1: 66,732,964 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,826 (GRCm39) |
Y79H |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,221,063 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,133,898 (GRCm39) |
I48M |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,094 (GRCm39) |
F210L |
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 |
|
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'- TTCTGCCGTGAGAGACTGAG -3'
(R):5'- AAGCCAGTTCGAAGGACTG -3'
Sequencing Primer
(F):5'- GACTGAGTGGATGTGGTAGATAC -3'
(R):5'- CCAGTTCGAAGGACTGTAGTAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation