Incidental Mutation 'R5352:Tmf1'
ID |
423836 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmf1
|
Ensembl Gene |
ENSMUSG00000030059 |
Gene Name |
TATA element modulatory factor 1 |
Synonyms |
LOC232286, 7030402D04Rik |
MMRRC Submission |
042931-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R5352 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
97129958-97156083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97153770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 101
(L101P)
|
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: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093325 Gene: ENSMUSG00000030059 AA Change: L101P
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: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120093 Gene: ENSMUSG00000030059 AA Change: L101P
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 |
|
Meta Mutation Damage Score |
0.2527 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (66/66) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
T |
G |
16: 14,436,565 (GRCm39) |
L206* |
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,642,776 (GRCm39) |
Y3218C |
probably damaging |
Het |
Agtpbp1 |
G |
A |
13: 59,621,560 (GRCm39) |
T41M |
probably damaging |
Het |
Akap6 |
A |
T |
12: 52,842,880 (GRCm39) |
E76V |
probably damaging |
Het |
Ank2 |
C |
A |
3: 127,292,640 (GRCm39) |
|
probably benign |
Het |
Atp6ap1l |
A |
C |
13: 91,031,875 (GRCm39) |
L269R |
probably damaging |
Het |
Blk |
A |
G |
14: 63,613,420 (GRCm39) |
S363P |
probably damaging |
Het |
Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,069,667 (GRCm39) |
N204S |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,863,555 (GRCm39) |
W672C |
probably damaging |
Het |
Ccnf |
A |
G |
17: 24,462,247 (GRCm39) |
|
probably null |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Chst1 |
A |
G |
2: 92,443,710 (GRCm39) |
T61A |
possibly damaging |
Het |
Col6a4 |
G |
A |
9: 105,938,743 (GRCm39) |
T1325I |
probably damaging |
Het |
Col7a1 |
A |
C |
9: 108,790,479 (GRCm39) |
T976P |
unknown |
Het |
Corin |
C |
T |
5: 72,462,376 (GRCm39) |
S811N |
probably benign |
Het |
Dnal1 |
T |
C |
12: 84,183,322 (GRCm39) |
V27A |
possibly damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
F830045P16Rik |
T |
A |
2: 129,314,821 (GRCm39) |
H152L |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,449,317 (GRCm39) |
S1405G |
possibly damaging |
Het |
Foxj1 |
T |
C |
11: 116,224,905 (GRCm39) |
N154S |
possibly damaging |
Het |
Gm12183 |
T |
C |
11: 48,642,989 (GRCm39) |
|
noncoding transcript |
Het |
Gm27047 |
G |
A |
6: 130,607,982 (GRCm39) |
|
noncoding transcript |
Het |
Grm5 |
A |
G |
7: 87,724,058 (GRCm39) |
I783V |
probably damaging |
Het |
Hk1 |
A |
T |
10: 62,140,549 (GRCm39) |
S113T |
probably damaging |
Het |
Iqca1 |
A |
T |
1: 90,057,918 (GRCm39) |
N260K |
probably benign |
Het |
Iws1 |
A |
T |
18: 32,216,457 (GRCm39) |
K399M |
probably damaging |
Het |
Kdm4d |
A |
G |
9: 14,375,654 (GRCm39) |
I68T |
probably damaging |
Het |
Man2a1 |
T |
C |
17: 65,038,241 (GRCm39) |
I75T |
probably damaging |
Het |
Med13 |
T |
A |
11: 86,192,294 (GRCm39) |
I824L |
possibly damaging |
Het |
Meioc |
A |
T |
11: 102,566,139 (GRCm39) |
E585V |
probably benign |
Het |
Mrgpre |
A |
C |
7: 143,334,831 (GRCm39) |
F224C |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,418,295 (GRCm39) |
F3747Y |
possibly damaging |
Het |
Nherf2 |
C |
T |
17: 24,861,229 (GRCm39) |
R66H |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,052,598 (GRCm39) |
V839A |
probably benign |
Het |
Nup210 |
A |
T |
6: 91,046,298 (GRCm39) |
V545E |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,929,674 (GRCm39) |
T310A |
probably damaging |
Het |
Pdxdc1 |
T |
C |
16: 13,658,175 (GRCm39) |
N516S |
probably benign |
Het |
Phlpp1 |
A |
G |
1: 106,100,455 (GRCm39) |
D241G |
probably benign |
Het |
Ppp1r36 |
T |
C |
12: 76,474,857 (GRCm39) |
V85A |
probably damaging |
Het |
Rasa3 |
A |
C |
8: 13,681,778 (GRCm39) |
L57R |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,417,321 (GRCm39) |
S1264G |
probably benign |
Het |
Rprd1b |
A |
G |
2: 157,900,656 (GRCm39) |
E247G |
probably damaging |
Het |
Sag |
G |
T |
1: 87,740,715 (GRCm39) |
V46L |
probably benign |
Het |
Sat2 |
A |
T |
11: 69,513,141 (GRCm39) |
I17F |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,734,093 (GRCm39) |
Y199N |
probably benign |
Het |
Snx2 |
A |
G |
18: 53,330,997 (GRCm39) |
|
probably null |
Het |
Thbs4 |
T |
C |
13: 92,900,098 (GRCm39) |
D466G |
probably damaging |
Het |
Tmem208 |
A |
G |
8: 106,055,063 (GRCm39) |
D91G |
probably damaging |
Het |
Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
Tor3a |
T |
G |
1: 156,501,763 (GRCm39) |
E38A |
probably damaging |
Het |
Trim31 |
T |
A |
17: 37,210,810 (GRCm39) |
D147E |
possibly damaging |
Het |
Vmn1r48 |
G |
T |
6: 90,013,129 (GRCm39) |
A232E |
probably benign |
Het |
Vmn1r89 |
T |
G |
7: 12,953,284 (GRCm39) |
F7V |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,247,114 (GRCm39) |
T555A |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,621,462 (GRCm39) |
T129K |
probably benign |
Het |
Zfpm2 |
T |
A |
15: 40,733,938 (GRCm39) |
F106I |
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 |
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'- GCTGAAGTCTCTCCAGAAACAC -3'
(R):5'- GCTCCCACTTGATGACTGATG -3'
Sequencing Primer
(F):5'- CACACGGAGTCTCTCACTTCAG -3'
(R):5'- CTGGGGATTGAACTCAAC -3'
|
Posted On |
2016-08-04 |