Incidental Mutation 'R6853:Tmf1'
ID |
535089 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmf1
|
Ensembl Gene |
ENSMUSG00000030059 |
Gene Name |
TATA element modulatory factor 1 |
Synonyms |
LOC232286, 7030402D04Rik |
MMRRC Submission |
044956-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R6853 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
97129958-97156083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 97145810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 574
(I574L)
|
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: I574L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093325 Gene: ENSMUSG00000030059 AA Change: I574L
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: I574L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120093 Gene: ENSMUSG00000030059 AA Change: I574L
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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
98% (63/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
G |
T |
15: 12,818,031 (GRCm39) |
D138E |
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,140,480 (GRCm39) |
S359P |
possibly damaging |
Het |
Bcam |
T |
C |
7: 19,494,331 (GRCm39) |
D355G |
probably damaging |
Het |
Bmp8a |
C |
A |
4: 123,236,476 (GRCm39) |
W9L |
unknown |
Het |
Cacul1 |
A |
T |
19: 60,517,904 (GRCm39) |
Y334* |
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,242,933 (GRCm39) |
N227K |
probably benign |
Het |
Ceacam2 |
T |
C |
7: 25,217,561 (GRCm39) |
N318S |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,019,833 (GRCm39) |
S553R |
possibly damaging |
Het |
Ctsa |
T |
A |
2: 164,679,284 (GRCm39) |
M331K |
probably benign |
Het |
Cyp2c38 |
T |
A |
19: 39,426,748 (GRCm39) |
Q184H |
probably benign |
Het |
Cyp2c70 |
C |
T |
19: 40,172,364 (GRCm39) |
E93K |
possibly damaging |
Het |
D430041D05Rik |
C |
T |
2: 104,071,500 (GRCm39) |
V1267M |
probably damaging |
Het |
Ddias |
C |
T |
7: 92,508,773 (GRCm39) |
A381T |
possibly damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,935 (GRCm39) |
C2696Y |
probably benign |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,497,738 (GRCm39) |
F256S |
probably damaging |
Het |
Fga |
A |
G |
3: 82,938,219 (GRCm39) |
Y198C |
probably damaging |
Het |
Gabpa |
T |
A |
16: 84,657,387 (GRCm39) |
C421S |
probably damaging |
Het |
Gm21798 |
A |
T |
15: 64,689,714 (GRCm39) |
|
probably benign |
Het |
Gm21798 |
A |
T |
15: 64,689,716 (GRCm39) |
|
probably benign |
Het |
Gm7145 |
A |
C |
1: 117,913,874 (GRCm39) |
N252T |
possibly damaging |
Het |
H2-Q6 |
T |
C |
17: 35,647,335 (GRCm39) |
*327R |
probably null |
Het |
H6pd |
T |
C |
4: 150,066,919 (GRCm39) |
D489G |
probably benign |
Het |
Htra2 |
A |
G |
6: 83,030,812 (GRCm39) |
|
probably benign |
Het |
Ice1 |
T |
G |
13: 70,751,421 (GRCm39) |
E1555A |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,609,402 (GRCm39) |
|
probably null |
Het |
Itih2 |
T |
C |
2: 10,120,077 (GRCm39) |
D320G |
probably damaging |
Het |
Kif1a |
T |
G |
1: 92,967,524 (GRCm39) |
H1129P |
possibly damaging |
Het |
Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 69,084,915 (GRCm39) |
D609N |
probably damaging |
Het |
Lgals9 |
A |
T |
11: 78,856,832 (GRCm39) |
D248E |
probably benign |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Msh3 |
A |
G |
13: 92,449,080 (GRCm39) |
|
probably null |
Het |
Mtus2 |
A |
G |
5: 148,043,821 (GRCm39) |
K803R |
probably damaging |
Het |
Oas1a |
T |
A |
5: 121,045,491 (GRCm39) |
I17L |
possibly damaging |
Het |
Or2h2c |
G |
A |
17: 37,422,400 (GRCm39) |
T158I |
probably benign |
Het |
Or5b121 |
T |
A |
19: 13,507,295 (GRCm39) |
I130K |
possibly damaging |
Het |
Or5k15 |
C |
T |
16: 58,710,121 (GRCm39) |
S154N |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,122 (GRCm39) |
S154C |
probably damaging |
Het |
Or7g32 |
T |
G |
9: 19,408,102 (GRCm39) |
Y19* |
probably null |
Het |
Otof |
T |
C |
5: 30,545,583 (GRCm39) |
D539G |
probably damaging |
Het |
Pabpc4 |
T |
C |
4: 123,188,536 (GRCm39) |
Y382H |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,472,566 (GRCm39) |
T859A |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,751 (GRCm39) |
R504H |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,671,755 (GRCm39) |
F2131S |
probably damaging |
Het |
Sik1 |
A |
T |
17: 32,073,180 (GRCm39) |
|
probably null |
Het |
Sis |
A |
G |
3: 72,798,759 (GRCm39) |
I1763T |
possibly damaging |
Het |
Slc39a6 |
A |
G |
18: 24,732,376 (GRCm39) |
I304T |
possibly damaging |
Het |
Slc5a12 |
A |
G |
2: 110,454,539 (GRCm39) |
S367G |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,743,738 (GRCm39) |
W476R |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,920,551 (GRCm39) |
Y429H |
possibly damaging |
Het |
Stt3a |
G |
A |
9: 36,653,023 (GRCm39) |
S553F |
possibly damaging |
Het |
Sult2a1 |
C |
T |
7: 13,535,412 (GRCm39) |
V214I |
possibly damaging |
Het |
Supt6 |
T |
C |
11: 78,123,656 (GRCm39) |
E38G |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,486,502 (GRCm39) |
G990R |
possibly damaging |
Het |
Thop1 |
T |
C |
10: 80,911,495 (GRCm39) |
|
probably null |
Het |
Thumpd2 |
C |
A |
17: 81,372,459 (GRCm39) |
D11Y |
possibly damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,879,499 (GRCm39) |
V623A |
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
G |
1: 188,643,434 (GRCm39) |
Y4265* |
probably null |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,240,771 (GRCm39) |
L114Q |
probably damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,063 (GRCm39) |
Y187F |
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 |
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'- TGAATGCTGCACACACCATGG -3'
(R):5'- TTGTTACCTAGAATCCAGTCACG -3'
Sequencing Primer
(F):5'- ACACCATGGCCAATTAGAGG -3'
(R):5'- CCTGTTCAATTGAGTTTTAACACTGG -3'
|
Posted On |
2018-09-12 |