Incidental Mutation 'IGL01901:Terf2ip'
ID |
179536 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Terf2ip
|
Ensembl Gene |
ENSMUSG00000033430 |
Gene Name |
telomeric repeat binding factor 2, interacting protein |
Synonyms |
Rap1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01901
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
112738030-112747160 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112738700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 196
(N196S)
|
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 benign
Transcript: ENSMUST00000052138
AA Change: N196S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052170 Gene: ENSMUSG00000033430 AA Change: N196S
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 |
noncoding transcript
Transcript: ENSMUST00000212732
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211990
|
Coding Region Coverage |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,713,947 (GRCm39) |
D393G |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,952,321 (GRCm39) |
N6S |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,492,169 (GRCm39) |
F358L |
probably damaging |
Het |
Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,653,274 (GRCm39) |
H264R |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,932 (GRCm39) |
H277R |
probably benign |
Het |
Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
Ube3c |
T |
A |
5: 29,873,005 (GRCm39) |
V1015E |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Terf2ip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0976:Terf2ip
|
UTSW |
8 |
112,738,349 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2014-05-07 |