Incidental Mutation 'R5430:Eipr1'
ID |
427141 |
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 |
042996-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5430 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
28801802-28917493 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28913015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 239
(N239Y)
|
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 |
possibly damaging
Transcript: ENSMUST00000221555
AA Change: N141Y
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221574
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221877
AA Change: N239Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.7575 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
96% (54/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
T |
A |
9: 39,963,587 (GRCm39) |
|
noncoding transcript |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
Arhgef1 |
C |
A |
7: 24,611,732 (GRCm39) |
|
probably null |
Het |
Brsk1 |
T |
C |
7: 4,713,435 (GRCm39) |
F702L |
probably benign |
Het |
Chrna3 |
C |
T |
9: 54,920,192 (GRCm39) |
V470I |
probably damaging |
Het |
Cpm |
A |
G |
10: 117,511,986 (GRCm39) |
Q310R |
possibly damaging |
Het |
Dennd5a |
T |
C |
7: 109,533,447 (GRCm39) |
T108A |
probably damaging |
Het |
Dvl3 |
C |
T |
16: 20,342,481 (GRCm39) |
R145W |
probably damaging |
Het |
E4f1 |
G |
A |
17: 24,663,944 (GRCm39) |
A532V |
probably damaging |
Het |
Eid1 |
A |
G |
2: 125,515,550 (GRCm39) |
T147A |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,760,417 (GRCm39) |
I1777M |
probably damaging |
Het |
Gm11787 |
A |
T |
4: 3,512,786 (GRCm39) |
|
noncoding transcript |
Het |
Gnat2 |
T |
C |
3: 108,005,716 (GRCm39) |
L227P |
probably damaging |
Het |
H2-T15 |
C |
T |
17: 36,366,967 (GRCm39) |
V359I |
probably benign |
Het |
Jag1 |
T |
C |
2: 136,943,626 (GRCm39) |
H190R |
possibly damaging |
Het |
Kdm7a |
A |
G |
6: 39,126,276 (GRCm39) |
W570R |
possibly damaging |
Het |
Lmbrd1 |
A |
G |
1: 24,732,061 (GRCm39) |
T93A |
possibly damaging |
Het |
Lrch4 |
T |
C |
5: 137,636,795 (GRCm39) |
S433P |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,376,930 (GRCm39) |
R4216W |
probably damaging |
Het |
Magohb |
A |
G |
6: 131,266,381 (GRCm39) |
Y42H |
probably damaging |
Het |
Melk |
A |
G |
4: 44,309,033 (GRCm39) |
H130R |
probably damaging |
Het |
Mettl24 |
G |
T |
10: 40,613,780 (GRCm39) |
R173L |
probably benign |
Het |
Mup4 |
A |
T |
4: 59,960,044 (GRCm39) |
H73Q |
probably damaging |
Het |
Mylk2 |
A |
T |
2: 152,759,468 (GRCm39) |
E386V |
probably damaging |
Het |
Nppb |
C |
T |
4: 148,070,838 (GRCm39) |
P71L |
probably benign |
Het |
Oca2 |
T |
C |
7: 55,945,208 (GRCm39) |
V272A |
probably damaging |
Het |
Or14j6 |
T |
A |
17: 38,215,304 (GRCm39) |
I289N |
probably damaging |
Het |
Or2t6 |
C |
T |
14: 14,175,692 (GRCm38) |
R130H |
probably benign |
Het |
Or4c10 |
A |
T |
2: 89,760,257 (GRCm39) |
I35F |
probably benign |
Het |
Osbpl6 |
T |
C |
2: 76,416,482 (GRCm39) |
S628P |
probably damaging |
Het |
Papola |
T |
C |
12: 105,775,843 (GRCm39) |
V253A |
probably damaging |
Het |
Pex12 |
T |
C |
11: 83,188,572 (GRCm39) |
D141G |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,501,871 (GRCm39) |
C97* |
probably null |
Het |
Ptprh |
T |
A |
7: 4,554,046 (GRCm39) |
E807V |
probably damaging |
Het |
Sema3a |
A |
T |
5: 13,615,730 (GRCm39) |
T385S |
probably damaging |
Het |
Sfn |
T |
C |
4: 133,328,938 (GRCm39) |
Y48C |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,220,959 (GRCm39) |
I200T |
probably benign |
Het |
Smarcal1 |
T |
C |
1: 72,665,776 (GRCm39) |
V758A |
probably damaging |
Het |
Stmn4 |
A |
G |
14: 66,595,463 (GRCm39) |
M190V |
possibly damaging |
Het |
Syt3 |
T |
G |
7: 44,040,337 (GRCm39) |
L190R |
possibly damaging |
Het |
Tbl1xr1 |
T |
A |
3: 22,246,246 (GRCm39) |
D255E |
probably benign |
Het |
Ttbk2 |
C |
T |
2: 120,608,046 (GRCm39) |
R191H |
probably damaging |
Het |
Vmn1r238 |
G |
T |
18: 3,122,521 (GRCm39) |
L298M |
possibly damaging |
Het |
Vmn2r45 |
A |
C |
7: 8,486,333 (GRCm39) |
Y318* |
probably null |
Het |
Vsig8 |
T |
C |
1: 172,387,196 (GRCm39) |
I24T |
probably damaging |
Het |
Wdr3 |
G |
A |
3: 100,064,643 (GRCm39) |
T166I |
possibly damaging |
Het |
Zfp354c |
A |
G |
11: 50,706,022 (GRCm39) |
I351T |
probably benign |
Het |
Zfp52 |
A |
G |
17: 21,775,329 (GRCm39) |
T8A |
probably benign |
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 |
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'- GCTAGGATTCCCTCTGCTTG -3'
(R):5'- AAGCTGGTTTGTGCTTTTCCAAATG -3'
Sequencing Primer
(F):5'- TCTGCTTGGCTGCCAGC -3'
(R):5'- GCAGCATGCAAATGAGTC -3'
|
Posted On |
2016-09-01 |