Incidental Mutation 'R6563:Terf2ip'
| ID |
522547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terf2ip
|
| Ensembl Gene |
ENSMUSG00000033430 |
| Gene Name |
telomeric repeat binding factor 2, interacting protein |
| Synonyms |
Rap1 |
| MMRRC Submission |
044687-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112738030-112747160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112744834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 384
(V384F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052138]
[ENSMUST00000071732]
|
| AlphaFold |
Q91VL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052138
AA Change: V384F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: V384F
| 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 |
noncoding transcript
Transcript: ENSMUST00000212732
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
A |
T |
2: 113,664,247 (GRCm39) |
C679S |
probably benign |
Het |
| Atg4d |
C |
T |
9: 21,179,756 (GRCm39) |
L235F |
possibly damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,113 (GRCm39) |
W174R |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,349,283 (GRCm39) |
H259L |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,416,229 (GRCm39) |
H493L |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,202,738 (GRCm39) |
D759V |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,940,710 (GRCm39) |
N443K |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,819 (GRCm39) |
V2156A |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,672,872 (GRCm39) |
V295A |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,727,170 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,266,128 (GRCm39) |
N696I |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,628 (GRCm39) |
Y96C |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,771,358 (GRCm39) |
T315N |
probably damaging |
Het |
| L3mbtl3 |
A |
C |
10: 26,178,761 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,670,823 (GRCm39) |
Y2409F |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,533,169 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,008,488 (GRCm39) |
N1273K |
probably damaging |
Het |
| Mfsd13b |
G |
A |
7: 120,594,690 (GRCm39) |
A321T |
probably damaging |
Het |
| Mvb12b |
A |
T |
2: 33,715,128 (GRCm39) |
H167Q |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,467,146 (GRCm39) |
N230Y |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,051 (GRCm39) |
R140S |
possibly damaging |
Het |
| Prkar2b |
G |
T |
12: 32,043,785 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
G |
T |
11: 43,596,592 (GRCm39) |
A586S |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,794,917 (GRCm39) |
V1150A |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,143 (GRCm39) |
|
probably null |
Het |
| Slk |
T |
C |
19: 47,624,908 (GRCm39) |
|
probably null |
Het |
| Snx3 |
A |
G |
10: 42,402,032 (GRCm39) |
E82G |
possibly damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,047 (GRCm39) |
V92A |
possibly damaging |
Het |
| Srcin1 |
A |
T |
11: 97,425,600 (GRCm39) |
Y486N |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,895,521 (GRCm39) |
E336G |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,915,968 (GRCm39) |
S1250C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,667,985 (GRCm39) |
E1263G |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly damaging |
Het |
| Utp25 |
C |
A |
1: 192,800,698 (GRCm39) |
R374L |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,030 (GRCm39) |
I199T |
possibly damaging |
Het |
| Vmn1r225 |
C |
T |
17: 20,722,763 (GRCm39) |
A68V |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,781,137 (GRCm39) |
N448Y |
possibly damaging |
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 |
|
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 |
|
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'- ATCAACAGTTACACAGGCCTTG -3'
(R):5'- AGGGGATACTTGCCATGGAC -3'
Sequencing Primer
(F):5'- TTACACAGGCCTTGCTGAAG -3'
(R):5'- ATGGACGGCTCTAATTCCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation