Incidental Mutation 'R5310:Erich3'
| ID |
404766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich3
|
| Ensembl Gene |
ENSMUSG00000078161 |
| Gene Name |
glutamate rich 3 |
| Synonyms |
5031409G23Rik, 4922501L14Rik |
| MMRRC Submission |
042893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154469217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1223
(D1223V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
[ENSMUST00000189969]
|
| AlphaFold |
F6QRE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098496
AA Change: D1223V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: D1223V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
18 |
102 |
3.73e-10 |
PROSPERO |
|
internal_repeat_1
|
155 |
240 |
3.73e-10 |
PROSPERO |
|
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189969
|
| SMART Domains |
Protein: ENSMUSP00000140929
Gene: ENSMUSG00000078161
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1688 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,931,839 (GRCm39) |
I31L |
possibly damaging |
Het |
| Abca17 |
T |
C |
17: 24,500,204 (GRCm39) |
K1329R |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,952,427 (GRCm39) |
Y197H |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,624,809 (GRCm39) |
V3720A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,592,350 (GRCm39) |
S870T |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,016,501 (GRCm39) |
E493G |
probably benign |
Het |
| Ap2a1 |
A |
G |
7: 44,555,489 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
A |
G |
3: 132,822,227 (GRCm39) |
L179P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 47,124,909 (GRCm39) |
D630G |
possibly damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,415,201 (GRCm39) |
L154Q |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,905,483 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
T |
A |
15: 85,810,423 (GRCm39) |
N2155I |
possibly damaging |
Het |
| Cemip |
A |
T |
7: 83,641,241 (GRCm39) |
L261H |
probably damaging |
Het |
| Cep57 |
G |
A |
9: 13,730,164 (GRCm39) |
H98Y |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,755,805 (GRCm39) |
L247Q |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,766,474 (GRCm39) |
M374L |
probably damaging |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,795 (GRCm39) |
D372G |
probably damaging |
Het |
| Dazl |
C |
A |
17: 50,588,311 (GRCm39) |
S288I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,311,474 (GRCm39) |
F1818L |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,210,204 (GRCm39) |
V143A |
possibly damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,192,687 (GRCm39) |
H838Q |
probably damaging |
Het |
| Fbxl2 |
A |
G |
9: 113,815,576 (GRCm39) |
I229T |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,760,794 (GRCm39) |
M1T |
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,708,162 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,946,633 (GRCm39) |
K618R |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,766,760 (GRCm39) |
I346K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,757,993 (GRCm39) |
Q533R |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,403,927 (GRCm39) |
S23P |
possibly damaging |
Het |
| Htr6 |
G |
T |
4: 138,788,977 (GRCm39) |
H359Q |
probably damaging |
Het |
| Ifit1 |
T |
C |
19: 34,626,204 (GRCm39) |
F447L |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,315,684 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Khk |
G |
A |
5: 31,084,373 (GRCm39) |
V118M |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,845,671 (GRCm39) |
K181M |
probably damaging |
Het |
| Lbh |
T |
C |
17: 73,228,287 (GRCm39) |
|
probably null |
Het |
| Lmo2 |
T |
C |
2: 103,806,445 (GRCm39) |
I108T |
probably damaging |
Het |
| Maco1 |
T |
C |
4: 134,564,330 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,315,251 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,498,169 (GRCm39) |
V525A |
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,778,164 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,328,007 (GRCm39) |
N682S |
probably benign |
Het |
| Nr2e3 |
G |
A |
9: 59,856,617 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,171 (GRCm39) |
C129R |
probably damaging |
Het |
| Or6b2b |
T |
C |
1: 92,418,758 (GRCm39) |
T240A |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pfas |
G |
A |
11: 68,878,847 (GRCm39) |
S1319F |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,842,887 (GRCm39) |
K2024R |
probably damaging |
Het |
| Pld4 |
G |
A |
12: 112,735,046 (GRCm39) |
C501Y |
probably damaging |
Het |
| Psg16 |
C |
T |
7: 16,824,560 (GRCm39) |
R115W |
probably damaging |
Het |
| Rab3gap1 |
G |
A |
1: 127,870,110 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
A |
4: 119,335,049 (GRCm39) |
K111N |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,927,571 (GRCm39) |
E113G |
probably damaging |
Het |
| Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
| Skint6 |
C |
A |
4: 113,041,965 (GRCm39) |
E292* |
probably null |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,134,373 (GRCm39) |
M170T |
probably benign |
Het |
| Slc15a5 |
T |
C |
6: 138,050,034 (GRCm39) |
N127S |
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,875,285 (GRCm39) |
H6Y |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,169 (GRCm39) |
V337G |
probably benign |
Het |
| Sugct |
A |
T |
13: 17,427,145 (GRCm39) |
C338* |
probably null |
Het |
| Tbk1 |
A |
T |
10: 121,391,956 (GRCm39) |
M486K |
probably benign |
Het |
| Terf1 |
A |
T |
1: 15,875,909 (GRCm39) |
E3V |
probably damaging |
Het |
| Thoc5 |
T |
A |
11: 4,860,648 (GRCm39) |
Y246N |
probably damaging |
Het |
| Tmem167b |
G |
A |
3: 108,469,415 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
A |
6: 148,256,910 (GRCm39) |
|
probably benign |
Het |
| Zfp322a |
A |
T |
13: 23,541,532 (GRCm39) |
M70K |
possibly damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,375 (GRCm39) |
H111Q |
possibly damaging |
Het |
|
| Other mutations in Erich3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Erich3
|
APN |
3 |
154,454,156 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01141:Erich3
|
APN |
3 |
154,419,653 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01812:Erich3
|
APN |
3 |
154,419,608 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02126:Erich3
|
APN |
3 |
154,419,599 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03371:Erich3
|
APN |
3 |
154,433,114 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03386:Erich3
|
APN |
3 |
154,444,876 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
FR4449:Erich3
|
UTSW |
3 |
154,469,150 (GRCm39) |
unclassified |
probably benign |
|
|
R0942:Erich3
|
UTSW |
3 |
154,444,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1558:Erich3
|
UTSW |
3 |
154,419,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1582:Erich3
|
UTSW |
3 |
154,469,960 (GRCm39) |
unclassified |
probably benign |
|
|
R1674:Erich3
|
UTSW |
3 |
154,468,260 (GRCm39) |
unclassified |
probably benign |
|
|
R1676:Erich3
|
UTSW |
3 |
154,468,260 (GRCm39) |
unclassified |
probably benign |
|
|
R1724:Erich3
|
UTSW |
3 |
154,467,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1757:Erich3
|
UTSW |
3 |
154,401,402 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1771:Erich3
|
UTSW |
3 |
154,454,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2384:Erich3
|
UTSW |
3 |
154,470,288 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2410:Erich3
|
UTSW |
3 |
154,439,240 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2507:Erich3
|
UTSW |
3 |
154,404,296 (GRCm39) |
missense |
probably null |
1.00 |
|
R3621:Erich3
|
UTSW |
3 |
154,454,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3755:Erich3
|
UTSW |
3 |
154,469,958 (GRCm39) |
unclassified |
probably benign |
|
|
R3756:Erich3
|
UTSW |
3 |
154,470,215 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3756:Erich3
|
UTSW |
3 |
154,469,958 (GRCm39) |
unclassified |
probably benign |
|
|
R3832:Erich3
|
UTSW |
3 |
154,467,998 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4020:Erich3
|
UTSW |
3 |
154,419,686 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4601:Erich3
|
UTSW |
3 |
154,470,375 (GRCm39) |
missense |
unknown |
|
|
R4628:Erich3
|
UTSW |
3 |
154,469,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Erich3
|
UTSW |
3 |
154,410,480 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4842:Erich3
|
UTSW |
3 |
154,410,480 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4863:Erich3
|
UTSW |
3 |
154,470,441 (GRCm39) |
missense |
unknown |
|
|
R4989:Erich3
|
UTSW |
3 |
154,454,025 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5596:Erich3
|
UTSW |
3 |
154,433,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5695:Erich3
|
UTSW |
3 |
154,439,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Erich3
|
UTSW |
3 |
154,438,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Erich3
|
UTSW |
3 |
154,468,134 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5916:Erich3
|
UTSW |
3 |
154,401,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6172:Erich3
|
UTSW |
3 |
154,469,978 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6321:Erich3
|
UTSW |
3 |
154,433,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Erich3
|
UTSW |
3 |
154,401,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Erich3
|
UTSW |
3 |
154,469,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6679:Erich3
|
UTSW |
3 |
154,468,066 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6697:Erich3
|
UTSW |
3 |
154,469,907 (GRCm39) |
unclassified |
probably benign |
|
|
R6800:Erich3
|
UTSW |
3 |
154,433,029 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6823:Erich3
|
UTSW |
3 |
154,433,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Erich3
|
UTSW |
3 |
154,468,286 (GRCm39) |
nonsense |
probably null |
|
|
R6989:Erich3
|
UTSW |
3 |
154,469,314 (GRCm39) |
unclassified |
probably benign |
|
|
R7400:Erich3
|
UTSW |
3 |
154,468,214 (GRCm39) |
missense |
|
|
|
R7421:Erich3
|
UTSW |
3 |
154,439,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Erich3
|
UTSW |
3 |
154,468,763 (GRCm39) |
missense |
unknown |
|
|
R7553:Erich3
|
UTSW |
3 |
154,439,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7751:Erich3
|
UTSW |
3 |
154,469,426 (GRCm39) |
missense |
unknown |
|
|
R7768:Erich3
|
UTSW |
3 |
154,453,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7955:Erich3
|
UTSW |
3 |
154,444,951 (GRCm39) |
nonsense |
probably null |
|
|
R8001:Erich3
|
UTSW |
3 |
154,419,553 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8101:Erich3
|
UTSW |
3 |
154,439,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8108:Erich3
|
UTSW |
3 |
154,425,752 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8162:Erich3
|
UTSW |
3 |
154,470,210 (GRCm39) |
missense |
unknown |
|
|
R8310:Erich3
|
UTSW |
3 |
154,410,586 (GRCm39) |
missense |
|
|
|
R8360:Erich3
|
UTSW |
3 |
154,469,991 (GRCm39) |
missense |
unknown |
|
|
R8418:Erich3
|
UTSW |
3 |
154,415,378 (GRCm39) |
missense |
|
|
|
R8490:Erich3
|
UTSW |
3 |
154,401,461 (GRCm39) |
missense |
|
|
|
R8545:Erich3
|
UTSW |
3 |
154,467,996 (GRCm39) |
unclassified |
probably benign |
|
|
R8813:Erich3
|
UTSW |
3 |
154,468,827 (GRCm39) |
missense |
unknown |
|
|
R8944:Erich3
|
UTSW |
3 |
154,462,692 (GRCm39) |
missense |
|
|
|
R8987:Erich3
|
UTSW |
3 |
154,415,340 (GRCm39) |
missense |
|
|
|
R9036:Erich3
|
UTSW |
3 |
154,468,886 (GRCm39) |
missense |
unknown |
|
|
R9135:Erich3
|
UTSW |
3 |
154,467,912 (GRCm39) |
missense |
|
|
|
R9175:Erich3
|
UTSW |
3 |
154,419,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9284:Erich3
|
UTSW |
3 |
154,404,308 (GRCm39) |
missense |
|
|
|
R9339:Erich3
|
UTSW |
3 |
154,468,872 (GRCm39) |
missense |
unknown |
|
|
R9626:Erich3
|
UTSW |
3 |
154,444,730 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Erich3
|
UTSW |
3 |
154,468,067 (GRCm39) |
missense |
|
|
|
Z1176:Erich3
|
UTSW |
3 |
154,404,338 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCTGGTTCTGAAGAGAC -3'
(R):5'- AGAACCCACTTCCTTCGCTG -3'
Sequencing Primer
(F):5'- CTGGTTCTGAAGAGACAGTCCTC -3'
(R):5'- ACTTCCTTCGCTGTGCCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation