Incidental Mutation 'R2433:Eipr1'
| ID |
250500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eipr1
|
| Ensembl Gene |
ENSMUSG00000036613 |
| Gene Name |
EARP complex and GARP complex interacting protein 1 |
| Synonyms |
D12Ertd604e, Tssc1 |
| MMRRC Submission |
040394-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2433 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
28801802-28917493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28913042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 248
(G248R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035657]
[ENSMUST00000221555]
[ENSMUST00000221877]
|
| AlphaFold |
Q8K0G5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035657
|
| SMART Domains |
Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
Blast:WD40
|
57 |
100 |
1e-18 |
BLAST |
|
WD40
|
122 |
163 |
6.39e0 |
SMART |
|
WD40
|
172 |
213 |
2.29e1 |
SMART |
|
WD40
|
216 |
257 |
6.38e-7 |
SMART |
|
WD40
|
261 |
301 |
4.38e-5 |
SMART |
|
WD40
|
335 |
375 |
1.2e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220933
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221555
AA Change: G150R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221574
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221877
AA Change: G248R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a4 |
A |
G |
6: 38,058,964 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,801,597 (GRCm39) |
K573E |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,870,247 (GRCm39) |
D244E |
probably benign |
Het |
| Dhrs11 |
C |
A |
11: 84,719,745 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
C |
13: 49,087,444 (GRCm39) |
D305E |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,802,393 (GRCm39) |
L97P |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,064,885 (GRCm39) |
S3033C |
possibly damaging |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,559 (GRCm39) |
T94A |
probably benign |
Het |
| Krtap16-3 |
T |
C |
16: 88,759,533 (GRCm39) |
Y60C |
unknown |
Het |
| Lrp4 |
G |
A |
2: 91,336,360 (GRCm39) |
V1724I |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,892,158 (GRCm39) |
Y1634C |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,160 (GRCm39) |
Y96C |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,929,912 (GRCm39) |
|
probably null |
Het |
| Pde3b |
T |
C |
7: 114,126,072 (GRCm39) |
C769R |
probably benign |
Het |
| Phlpp2 |
T |
G |
8: 110,666,634 (GRCm39) |
C1054W |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,311,178 (GRCm39) |
V193D |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,127 (GRCm39) |
L433S |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,916,490 (GRCm39) |
C13S |
possibly damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,072,944 (GRCm39) |
L689P |
probably benign |
Het |
| Slc7a6os |
T |
C |
8: 106,931,003 (GRCm39) |
N211S |
possibly damaging |
Het |
| Smurf2 |
T |
A |
11: 106,759,490 (GRCm39) |
I69F |
probably benign |
Het |
| St8sia3 |
A |
T |
18: 64,402,787 (GRCm39) |
H198L |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,829,083 (GRCm39) |
K594R |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,544 (GRCm39) |
I1396K |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,876 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,193 (GRCm39) |
Y351* |
probably null |
Het |
|
| Other mutations in Eipr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Eipr1
|
APN |
12 |
28,914,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hoss
|
UTSW |
12 |
28,914,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Eipr1
|
UTSW |
12 |
28,914,703 (GRCm39) |
nonsense |
probably null |
|
|
R0352:Eipr1
|
UTSW |
12 |
28,816,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0433:Eipr1
|
UTSW |
12 |
28,909,330 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1807:Eipr1
|
UTSW |
12 |
28,816,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Eipr1
|
UTSW |
12 |
28,816,850 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1926:Eipr1
|
UTSW |
12 |
28,914,836 (GRCm39) |
splice site |
probably null |
|
|
R1981:Eipr1
|
UTSW |
12 |
28,913,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Eipr1
|
UTSW |
12 |
28,810,091 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2970:Eipr1
|
UTSW |
12 |
28,897,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2990:Eipr1
|
UTSW |
12 |
28,909,267 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4412:Eipr1
|
UTSW |
12 |
28,909,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Eipr1
|
UTSW |
12 |
28,909,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Eipr1
|
UTSW |
12 |
28,878,855 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5430:Eipr1
|
UTSW |
12 |
28,913,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Eipr1
|
UTSW |
12 |
28,917,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Eipr1
|
UTSW |
12 |
28,914,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Eipr1
|
UTSW |
12 |
28,909,357 (GRCm39) |
missense |
probably benign |
|
|
R7038:Eipr1
|
UTSW |
12 |
28,801,817 (GRCm39) |
unclassified |
probably benign |
|
|
R7417:Eipr1
|
UTSW |
12 |
28,916,954 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7808:Eipr1
|
UTSW |
12 |
28,816,769 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8037:Eipr1
|
UTSW |
12 |
28,914,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8175:Eipr1
|
UTSW |
12 |
28,913,106 (GRCm39) |
missense |
|
|
|
R8942:Eipr1
|
UTSW |
12 |
28,917,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Eipr1
|
UTSW |
12 |
28,897,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Eipr1
|
UTSW |
12 |
28,909,286 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCCAGCTCTTTCTTCAG -3'
(R):5'- GGGCTGATTGAATGATTCACAG -3'
Sequencing Primer
(F):5'- AGCTCTTTCTTCAGCTGGG -3'
(R):5'- CTGATTGAATGATTCACAGCAGCAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation