Incidental Mutation 'R0976:Terf2ip'
| ID |
81172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terf2ip
|
| Ensembl Gene |
ENSMUSG00000033430 |
| Gene Name |
telomeric repeat binding factor 2, interacting protein |
| Synonyms |
Rap1 |
| MMRRC Submission |
039105-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0976 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112738030-112747160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112738349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 79
(I79N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034426]
[ENSMUST00000052138]
[ENSMUST00000071732]
[ENSMUST00000093120]
[ENSMUST00000164470]
[ENSMUST00000211990]
|
| AlphaFold |
Q91VL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034426
|
| SMART Domains |
Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
14 |
53 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
124 |
204 |
2.8e-15 |
PFAM |
|
Pfam:tRNA-synt_2
|
220 |
573 |
4.9e-93 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052138
AA Change: I79N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: I79N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRCT_2
|
17 |
100 |
1.4e-23 |
PFAM |
|
Pfam:Myb_DNA-bind_2
|
129 |
193 |
3.9e-35 |
PFAM |
|
low complexity region
|
279 |
298 |
N/A |
INTRINSIC |
|
Pfam:Rap1_C
|
315 |
392 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071732
|
| SMART Domains |
Protein: ENSMUSP00000128163
Gene: ENSMUSG00000092086
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
14 |
86 |
3.1e-26 |
SMART |
|
RRM
|
105 |
177 |
8.1e-24 |
SMART |
|
low complexity region
|
192 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093120
|
| SMART Domains |
Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
44 |
82 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
153 |
233 |
3.6e-17 |
PFAM |
|
Pfam:tRNA-synt_2
|
249 |
601 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164470
|
| SMART Domains |
Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
44 |
82 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
153 |
233 |
1.6e-16 |
PFAM |
|
Pfam:tRNA-synt_2
|
249 |
602 |
1.8e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212732
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are fertile. Mice homozygous for a gene trapped allele die prior to E6.5 while heterozygous mice are resistant to LPS-induced mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,807,227 (GRCm39) |
I1147F |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,621 (GRCm39) |
|
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,060 (GRCm39) |
E551G |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,475,254 (GRCm39) |
L153Q |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 47,248,164 (GRCm39) |
P1190L |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,342,144 (GRCm39) |
D416V |
probably damaging |
Het |
| Cyp2c67 |
G |
T |
19: 39,631,818 (GRCm39) |
F126L |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,278 (GRCm39) |
I490V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,228,098 (GRCm39) |
|
probably null |
Het |
| Fam83f |
T |
A |
15: 80,576,285 (GRCm39) |
V312E |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,828,375 (GRCm39) |
D6724G |
possibly damaging |
Het |
| Gabrr3 |
G |
T |
16: 59,281,887 (GRCm39) |
C414F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| H2bc18 |
T |
A |
3: 96,177,402 (GRCm39) |
V112E |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,347,160 (GRCm39) |
K2005M |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,048,936 (GRCm39) |
N338K |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,205,760 (GRCm39) |
D39G |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,690,411 (GRCm39) |
R306S |
possibly damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,349 (GRCm39) |
R285G |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,154,144 (GRCm39) |
I591T |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,152 (GRCm39) |
L101S |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,335,236 (GRCm39) |
S517P |
probably damaging |
Het |
| Pdcd2l |
G |
T |
7: 33,895,771 (GRCm39) |
D67E |
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,683,943 (GRCm39) |
D1146E |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,136,946 (GRCm39) |
Y62N |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,148,013 (GRCm39) |
*935R |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,658,877 (GRCm39) |
F155L |
probably damaging |
Het |
| Stag1 |
G |
A |
9: 100,812,069 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
T |
7: 126,474,323 (GRCm39) |
R302Q |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,445,882 (GRCm39) |
V103A |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,606 (GRCm39) |
T144I |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,559,343 (GRCm39) |
N622S |
possibly damaging |
Het |
| Trappc9 |
T |
A |
15: 72,871,823 (GRCm39) |
Q489L |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,108 (GRCm39) |
T677A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,104 (GRCm39) |
F292L |
probably benign |
Het |
|
| Other mutations in Terf2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01901:Terf2ip
|
APN |
8 |
112,738,700 (GRCm39) |
missense |
probably benign |
|
|
R0244:Terf2ip
|
UTSW |
8 |
112,744,796 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0544:Terf2ip
|
UTSW |
8 |
112,741,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0617:Terf2ip
|
UTSW |
8 |
112,738,127 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1709:Terf2ip
|
UTSW |
8 |
112,738,238 (GRCm39) |
frame shift |
probably null |
|
|
R2078:Terf2ip
|
UTSW |
8 |
112,742,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2134:Terf2ip
|
UTSW |
8 |
112,738,271 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4572:Terf2ip
|
UTSW |
8 |
112,738,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6172:Terf2ip
|
UTSW |
8 |
112,744,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Terf2ip
|
UTSW |
8 |
112,738,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6563:Terf2ip
|
UTSW |
8 |
112,744,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Terf2ip
|
UTSW |
8 |
112,738,052 (GRCm39) |
unclassified |
probably benign |
|
|
R7203:Terf2ip
|
UTSW |
8 |
112,744,618 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7222:Terf2ip
|
UTSW |
8 |
112,738,547 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7304:Terf2ip
|
UTSW |
8 |
112,738,280 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7787:Terf2ip
|
UTSW |
8 |
112,742,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7938:Terf2ip
|
UTSW |
8 |
112,738,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8089:Terf2ip
|
UTSW |
8 |
112,738,424 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8969:Terf2ip
|
UTSW |
8 |
112,738,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9376:Terf2ip
|
UTSW |
8 |
112,744,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9376:Terf2ip
|
UTSW |
8 |
112,738,514 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCACTCTGTTCGTGAGAGAAG -3'
(R):5'- TCCACAAGGCATTGCCTGTGAC -3'
Sequencing Primer
(F):5'- TGTTCGTGAGAGAAGACGGC -3'
(R):5'- CTCCTTCACGTAGGTCAGGATG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation