Incidental Mutation 'R6696:Eipr1'
| ID |
543516 |
| 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 |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
64.0073 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
28801802-28917493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28909357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 208
(T208N)
|
| 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 |
probably benign
Transcript: ENSMUST00000221555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221877
AA Change: T208N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
| Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
probably damaging |
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 |
|
R2433:Eipr1
|
UTSW |
12 |
28,913,042 (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 |
|
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'- GACCGAACCTCCAAATTGTTC -3'
(R):5'- CAATGGGCCTGCTAGCTTATTTTG -3'
Sequencing Primer
(F):5'- ACAATACCCGTTCTACCAG -3'
(R):5'- TTGGGGTGAAGATAATTCCTACAG -3'
|
| Posted On |
2019-02-13 |
Incidental Mutation