Incidental Mutation 'R9339:Erich3'
ID |
707358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Erich3
|
Ensembl Gene |
ENSMUSG00000078161 |
Gene Name |
glutamate rich 3 |
Synonyms |
5031409G23Rik, 4922501L14Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9339 (G1)
|
Quality Score |
219.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 154468872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 1108
(L1108R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
[ENSMUST00000189969]
|
AlphaFold |
F6QRE9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000098496
AA Change: L1108R
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161 AA Change: L1108R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,667,521 (GRCm39) |
E304G |
unknown |
Het |
4933436I01Rik |
T |
A |
X: 66,964,689 (GRCm39) |
K57* |
probably null |
Het |
Aar2 |
T |
C |
2: 156,392,893 (GRCm39) |
V94A |
probably benign |
Het |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Adam25 |
T |
C |
8: 41,206,911 (GRCm39) |
V59A |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,987,616 (GRCm39) |
D103G |
probably damaging |
Het |
Ankrd12 |
A |
G |
17: 66,291,408 (GRCm39) |
S1342P |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,730,571 (GRCm39) |
T739A |
probably benign |
Het |
Catsperg1 |
T |
A |
7: 28,894,885 (GRCm39) |
N571Y |
probably benign |
Het |
Cela3b |
A |
G |
4: 137,152,355 (GRCm39) |
I74T |
probably damaging |
Het |
Cfhr1 |
A |
G |
1: 139,485,293 (GRCm39) |
L51P |
probably benign |
Het |
Cfhr4 |
T |
A |
1: 139,682,044 (GRCm39) |
Y184F |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,396,100 (GRCm39) |
D534E |
probably benign |
Het |
Cstf3 |
C |
T |
2: 104,493,778 (GRCm39) |
P594L |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,492,689 (GRCm39) |
L602P |
probably damaging |
Het |
Defa24 |
A |
G |
8: 22,224,559 (GRCm39) |
T3A |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,847,941 (GRCm39) |
H546R |
probably benign |
Het |
Dscam |
A |
G |
16: 96,517,263 (GRCm39) |
V882A |
possibly damaging |
Het |
Dydc2 |
A |
G |
14: 40,771,260 (GRCm39) |
*140Q |
probably null |
Het |
Ehd4 |
T |
C |
2: 119,921,708 (GRCm39) |
D516G |
possibly damaging |
Het |
En1 |
T |
C |
1: 120,534,893 (GRCm39) |
V394A |
unknown |
Het |
Erp27 |
A |
G |
6: 136,896,945 (GRCm39) |
S86P |
probably benign |
Het |
Esr1 |
A |
C |
10: 4,696,798 (GRCm39) |
S216R |
probably damaging |
Het |
Fbxo40 |
A |
T |
16: 36,789,286 (GRCm39) |
I608N |
probably damaging |
Het |
Fcna |
G |
A |
2: 25,517,782 (GRCm39) |
Q23* |
probably null |
Het |
Foxn4 |
C |
T |
5: 114,394,955 (GRCm39) |
R324Q |
probably benign |
Het |
Gata6 |
A |
G |
18: 11,054,520 (GRCm39) |
T150A |
probably damaging |
Het |
Gbp2b |
T |
A |
3: 142,317,178 (GRCm39) |
H511Q |
probably benign |
Het |
Gpr171 |
C |
A |
3: 59,005,362 (GRCm39) |
V138L |
probably damaging |
Het |
Grhl2 |
G |
A |
15: 37,344,904 (GRCm39) |
V509I |
probably benign |
Het |
Gzmd |
G |
A |
14: 56,367,869 (GRCm39) |
P135S |
probably damaging |
Het |
Hhatl |
C |
A |
9: 121,618,862 (GRCm39) |
C90F |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,278,480 (GRCm39) |
K3050R |
probably benign |
Het |
Kcnh3 |
T |
C |
15: 99,130,786 (GRCm39) |
Y468H |
probably damaging |
Het |
Lhfpl6 |
A |
G |
3: 52,950,891 (GRCm39) |
H55R |
probably benign |
Het |
Lpgat1 |
T |
C |
1: 191,451,488 (GRCm39) |
V38A |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,510,031 (GRCm39) |
I479T |
probably benign |
Het |
Map1b |
A |
T |
13: 99,567,570 (GRCm39) |
I1717N |
unknown |
Het |
Map3k20 |
G |
T |
2: 72,272,216 (GRCm39) |
R781S |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,306,358 (GRCm39) |
E157G |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,755,370 (GRCm39) |
E178G |
probably damaging |
Het |
Naaladl2 |
A |
G |
3: 24,057,146 (GRCm39) |
L605P |
probably damaging |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Nt5el |
C |
T |
13: 105,246,114 (GRCm39) |
T225I |
probably benign |
Het |
Or10h28 |
T |
C |
17: 33,488,631 (GRCm39) |
V311A |
probably benign |
Het |
Or4a76 |
T |
C |
2: 89,460,555 (GRCm39) |
E229G |
probably damaging |
Het |
Padi3 |
A |
T |
4: 140,522,928 (GRCm39) |
I348N |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,709,335 (GRCm39) |
D660G |
probably damaging |
Het |
Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,452,949 (GRCm39) |
V3958A |
probably damaging |
Het |
Ppargc1b |
C |
A |
18: 61,456,267 (GRCm39) |
C80F |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,128,674 (GRCm39) |
E590G |
probably benign |
Het |
Rbm47 |
T |
C |
5: 66,183,826 (GRCm39) |
E259G |
possibly damaging |
Het |
Rint1 |
A |
G |
5: 23,993,355 (GRCm39) |
*37W |
probably null |
Het |
Sacs |
G |
A |
14: 61,443,309 (GRCm39) |
R1785Q |
probably benign |
Het |
Samm50 |
T |
C |
15: 84,095,276 (GRCm39) |
C421R |
probably benign |
Het |
Scnn1b |
G |
T |
7: 121,511,254 (GRCm39) |
A314S |
probably damaging |
Het |
Sf3b3 |
C |
A |
8: 111,542,854 (GRCm39) |
V868L |
probably benign |
Het |
Sirt5 |
G |
T |
13: 43,530,327 (GRCm39) |
V136L |
probably benign |
Het |
Slc1a7 |
T |
C |
4: 107,850,237 (GRCm39) |
V116A |
probably damaging |
Het |
Slc24a4 |
G |
A |
12: 102,230,638 (GRCm39) |
V510M |
probably damaging |
Het |
Slc35f5 |
T |
C |
1: 125,517,628 (GRCm39) |
I116T |
probably benign |
Het |
Spata4 |
T |
C |
8: 55,053,899 (GRCm39) |
S22P |
probably benign |
Het |
Sqstm1 |
A |
G |
11: 50,091,725 (GRCm39) |
V324A |
probably benign |
Het |
Stmnd1 |
G |
A |
13: 46,453,079 (GRCm39) |
A252T |
probably benign |
Het |
Tbl1xr1 |
C |
A |
3: 22,258,150 (GRCm39) |
N470K |
possibly damaging |
Het |
Thap12 |
T |
C |
7: 98,364,323 (GRCm39) |
S164P |
possibly damaging |
Het |
Thsd1 |
A |
G |
8: 22,733,898 (GRCm39) |
Y315C |
probably damaging |
Het |
Tnni2 |
C |
A |
7: 141,997,672 (GRCm39) |
D102E |
probably damaging |
Het |
Trav7n-4 |
A |
C |
14: 53,328,849 (GRCm39) |
N16T |
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,665,906 (GRCm39) |
K900R |
probably benign |
Het |
Tspoap1 |
T |
A |
11: 87,668,839 (GRCm39) |
C1371S |
probably benign |
Het |
Tssk5 |
A |
G |
15: 76,257,156 (GRCm39) |
M242T |
possibly damaging |
Het |
Ubn2 |
A |
G |
6: 38,460,079 (GRCm39) |
I607V |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,284,865 (GRCm39) |
V551E |
probably benign |
Het |
Vipr2 |
A |
G |
12: 116,058,344 (GRCm39) |
N87S |
probably damaging |
Het |
Vmn2r18 |
T |
A |
5: 151,485,132 (GRCm39) |
K787N |
probably damaging |
Het |
Wwc2 |
A |
T |
8: 48,353,859 (GRCm39) |
W92R |
probably damaging |
Het |
Zfp141 |
A |
G |
7: 42,125,639 (GRCm39) |
Y278H |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,844,887 (GRCm39) |
S686P |
probably benign |
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 |
R5310:Erich3
|
UTSW |
3 |
154,469,217 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
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'- TCCCACAGGAAAGGTAGCAG -3'
(R):5'- GAAAGTCCTTCCTCTCTGTGG -3'
Sequencing Primer
(F):5'- CAGAAGGCTCTGTGTTTCTAAGTG -3'
(R):5'- TGCTCTCTCTCCCCCGAGG -3'
|
Posted On |
2022-04-18 |