Incidental Mutation 'R6719:Terf1'
| ID |
529478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terf1
|
| Ensembl Gene |
ENSMUSG00000025925 |
| Gene Name |
telomeric repeat binding factor 1 |
| Synonyms |
Pin2, Trbf1, Trf1 |
| MMRRC Submission |
044837-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
15875870-15914276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15908460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 351
(V351A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027057]
[ENSMUST00000188371]
|
| AlphaFold |
P70371 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027057
AA Change: V322A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: V322A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRF
|
61 |
257 |
2.3e-28 |
PFAM |
|
SANT
|
366 |
417 |
1.9e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188371
AA Change: V351A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: V351A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRF
|
61 |
258 |
3e-30 |
PFAM |
|
SANT
|
366 |
417 |
1.9e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that binds to repeats in telomeres to form a nucleoprotein complex that protects against the degradation of chromosomal ends. The encoded protein regulates the length of telomeres and is an integral structural component of the functional telomere. This protein is thought to play a role in spindle formation in mitosis. Mutations in this gene are associated with bone marrow failure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality and die sometime before E7.5 [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
C |
19: 42,041,151 (GRCm39) |
I94T |
possibly damaging |
Het |
| Afp |
T |
A |
5: 90,651,562 (GRCm39) |
N392K |
probably benign |
Het |
| Asrgl1 |
C |
T |
19: 9,090,512 (GRCm39) |
G278D |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,301,377 (GRCm39) |
I611V |
probably damaging |
Het |
| Avl9 |
A |
G |
6: 56,730,370 (GRCm39) |
Y571C |
probably damaging |
Het |
| Clrn1 |
A |
T |
3: 58,753,861 (GRCm39) |
C167S |
probably damaging |
Het |
| Ctsr |
C |
T |
13: 61,308,265 (GRCm39) |
G293D |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,721,332 (GRCm39) |
S1867T |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,439 (GRCm39) |
I1025N |
probably damaging |
Het |
| Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,114,867 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
G |
9: 15,907,440 (GRCm39) |
L2854P |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,340 (GRCm39) |
S61P |
possibly damaging |
Het |
| Fyb2 |
A |
T |
4: 104,867,656 (GRCm39) |
D669V |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,862,574 (GRCm39) |
C4081F |
probably damaging |
Het |
| Hexim1 |
T |
C |
11: 103,008,091 (GRCm39) |
L115P |
probably benign |
Het |
| Kat2a |
T |
G |
11: 100,602,967 (GRCm39) |
Q88H |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,906,977 (GRCm39) |
Y1581C |
probably damaging |
Het |
| Ltbp4 |
T |
G |
7: 27,028,188 (GRCm39) |
D323A |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,581,876 (GRCm39) |
I115K |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,562 (GRCm39) |
D271G |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,092,907 (GRCm39) |
V77D |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha5 |
T |
C |
18: 37,093,925 (GRCm39) |
S145P |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,501,046 (GRCm39) |
E104G |
probably benign |
Het |
| Rho |
T |
C |
6: 115,910,854 (GRCm39) |
I133T |
possibly damaging |
Het |
| Sall3 |
G |
T |
18: 81,014,721 (GRCm39) |
T997K |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,908,896 (GRCm39) |
|
probably null |
Het |
| Sfxn1 |
T |
A |
13: 54,260,583 (GRCm39) |
H310Q |
probably benign |
Het |
| Slc25a18 |
A |
G |
6: 120,765,215 (GRCm39) |
D92G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,689,523 (GRCm39) |
I490T |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,087,451 (GRCm39) |
|
probably null |
Het |
| Trgj2 |
A |
G |
13: 19,495,426 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,824,220 (GRCm39) |
C1078S |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,375,993 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
C |
2: 174,299,187 (GRCm39) |
T290P |
probably damaging |
Het |
| Ugt2b35 |
G |
T |
5: 87,155,247 (GRCm39) |
D361Y |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,337,446 (GRCm39) |
S368P |
probably damaging |
Het |
|
| Other mutations in Terf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02302:Terf1
|
APN |
1 |
15,903,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Terf1
|
UTSW |
1 |
15,876,062 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0369:Terf1
|
UTSW |
1 |
15,889,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Terf1
|
UTSW |
1 |
15,913,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Terf1
|
UTSW |
1 |
15,889,162 (GRCm39) |
nonsense |
probably null |
|
|
R1942:Terf1
|
UTSW |
1 |
15,876,038 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2029:Terf1
|
UTSW |
1 |
15,876,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2132:Terf1
|
UTSW |
1 |
15,875,909 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2391:Terf1
|
UTSW |
1 |
15,875,963 (GRCm39) |
nonsense |
probably null |
|
|
R4255:Terf1
|
UTSW |
1 |
15,875,903 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4685:Terf1
|
UTSW |
1 |
15,889,185 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5291:Terf1
|
UTSW |
1 |
15,889,310 (GRCm39) |
splice site |
probably null |
|
|
R5310:Terf1
|
UTSW |
1 |
15,875,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5338:Terf1
|
UTSW |
1 |
15,901,787 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5661:Terf1
|
UTSW |
1 |
15,889,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Terf1
|
UTSW |
1 |
15,889,221 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7126:Terf1
|
UTSW |
1 |
15,883,363 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7917:Terf1
|
UTSW |
1 |
15,889,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Terf1
|
UTSW |
1 |
15,883,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCTAAACAGAGAAACCCT -3'
(R):5'- GCGAAATGATGTAAACACTGAGG -3'
Sequencing Primer
(F):5'- CAGAGAAACCCTGTCTCGG -3'
(R):5'- GAATCTTTGAGTTCAAGGCCAGCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation