Incidental Mutation 'R9284:Erich3'
| ID |
703799 |
| 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 # |
R9284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154404308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 55
(N55I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
|
| AlphaFold |
F6QRE9 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: N55I
| 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 |
|
| Meta Mutation Damage Score |
0.1867 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
G |
4: 144,504,191 (GRCm39) |
Q320P |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,994,055 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,657,568 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,919,480 (GRCm39) |
Q80R |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,684,019 (GRCm39) |
V560M |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
| Cacng8 |
C |
A |
7: 3,459,746 (GRCm39) |
Y112* |
probably null |
Het |
| Catsperg2 |
A |
G |
7: 29,405,006 (GRCm39) |
|
probably null |
Het |
| Ccdc12 |
A |
C |
9: 110,540,203 (GRCm39) |
T131P |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cep95 |
A |
T |
11: 106,704,624 (GRCm39) |
H493L |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,137 (GRCm39) |
T50A |
probably benign |
Het |
| Cyp3a16 |
T |
A |
5: 145,377,304 (GRCm39) |
I428F |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,301,091 (GRCm39) |
L149F |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,557,196 (GRCm39) |
V497E |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,550,962 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,895 (GRCm39) |
I66T |
probably damaging |
Het |
| Gp5 |
G |
A |
16: 30,127,094 (GRCm39) |
L527F |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,883 (GRCm39) |
G22D |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,838,991 (GRCm39) |
D67E |
probably benign |
Het |
| Itgae |
G |
A |
11: 73,012,752 (GRCm39) |
V695I |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,256,174 (GRCm39) |
N1006K |
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,583,541 (GRCm39) |
Q710* |
probably null |
Het |
| Loxhd1 |
C |
T |
18: 77,501,826 (GRCm39) |
A1715V |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,228,755 (GRCm39) |
Q325* |
probably null |
Het |
| Med1 |
A |
T |
11: 98,046,366 (GRCm39) |
S1477T |
unknown |
Het |
| Mr1 |
T |
A |
1: 155,013,274 (GRCm39) |
H101L |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,543,537 (GRCm39) |
S405T |
probably benign |
Het |
| Nme9 |
G |
C |
9: 99,338,321 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
A |
5: 29,647,532 (GRCm39) |
I589N |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,638,890 (GRCm39) |
D148E |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,548,375 (GRCm39) |
V1006A |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,416 (GRCm39) |
I174N |
possibly damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,357 (GRCm39) |
I92T |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,273 (GRCm39) |
L281Q |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,924,278 (GRCm39) |
M1L |
probably benign |
Het |
| Or6c200-ps1 |
G |
A |
10: 128,869,821 (GRCm39) |
P297S |
probably damaging |
Het |
| Phyhd1 |
G |
T |
2: 30,156,879 (GRCm39) |
G7* |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,004,730 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 45,011,222 (GRCm39) |
C3R |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,769 (GRCm39) |
V148A |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,167 (GRCm39) |
D421E |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
| Rbpj |
T |
G |
5: 53,810,724 (GRCm39) |
V448G |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 51,998,564 (GRCm39) |
V1067A |
probably benign |
Het |
| Scfd1 |
A |
T |
12: 51,439,024 (GRCm39) |
N162I |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
A |
T |
1: 85,507,363 (GRCm39) |
|
probably null |
Het |
| Sparcl1 |
A |
T |
5: 104,236,345 (GRCm39) |
C469* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
| Stard7 |
T |
G |
2: 127,132,956 (GRCm39) |
S250A |
probably damaging |
Het |
| Stxbp5l |
A |
C |
16: 37,028,442 (GRCm39) |
Y540* |
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,377 (GRCm39) |
V227A |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,711 (GRCm39) |
I939T |
possibly damaging |
Het |
| Tnik |
G |
T |
3: 28,593,570 (GRCm39) |
S142I |
unknown |
Het |
| Trim6 |
A |
G |
7: 103,882,116 (GRCm39) |
T482A |
probably damaging |
Het |
| Tssk5 |
A |
G |
15: 76,257,168 (GRCm39) |
I238T |
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,156,140 (GRCm39) |
T411A |
probably benign |
Het |
| Zc2hc1b |
C |
A |
10: 13,043,562 (GRCm39) |
R111L |
probably benign |
Het |
| Zfp266 |
A |
T |
9: 20,411,300 (GRCm39) |
C292* |
probably null |
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 |
|
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'- GTATTCTCCTTAGGCTTTGAAAAGG -3'
(R):5'- CTTAGGAACAAACCAGTTTCCC -3'
Sequencing Primer
(F):5'- GCTTTGAAAAGGCCACTTTCC -3'
(R):5'- GGAACAAACCAGTTTCCCTTGGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation