Incidental Mutation 'R8162:Erich3'
| ID |
633562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich3
|
| Ensembl Gene |
ENSMUSG00000078161 |
| Gene Name |
glutamate rich 3 |
| Synonyms |
5031409G23Rik, 4922501L14Rik |
| MMRRC Submission |
067588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 154470210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1554
(T1554M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
[ENSMUST00000189969]
|
| AlphaFold |
F6QRE9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000098496
AA Change: T1554M
|
| SMART Domains |
Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: T1554M
| 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 damaging
Transcript: ENSMUST00000189969
AA Change: T81M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140929
Gene: ENSMUSG00000078161
AA Change: T81M
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7b |
T |
A |
15: 77,307,430 (GRCm39) |
Q355L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,633,945 (GRCm39) |
Q383H |
probably benign |
Het |
| Ash1l |
T |
G |
3: 88,977,553 (GRCm39) |
M2661R |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,577,313 (GRCm39) |
|
probably null |
Het |
| Ccdc40 |
G |
T |
11: 119,150,870 (GRCm39) |
|
probably null |
Het |
| Cd27 |
T |
A |
6: 125,210,188 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
C |
8: 105,817,385 (GRCm39) |
L371S |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,117,711 (GRCm39) |
Y210N |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,681 (GRCm39) |
H553L |
|
Het |
| Cpne8 |
T |
C |
15: 90,503,881 (GRCm39) |
I95V |
probably benign |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,525 (GRCm39) |
T96A |
probably benign |
Het |
| Dand5 |
C |
A |
8: 85,543,147 (GRCm39) |
G110C |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,241,300 (GRCm39) |
S278P |
probably damaging |
Het |
| Farp2 |
C |
A |
1: 93,548,325 (GRCm39) |
H1003Q |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm13741 |
A |
C |
2: 87,486,446 (GRCm39) |
M273R |
possibly damaging |
Het |
| Gm28363 |
T |
A |
1: 117,626,641 (GRCm39) |
D26E |
unknown |
Het |
| Gm8674 |
A |
T |
13: 50,054,407 (GRCm39) |
D700E |
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,593 (GRCm39) |
Q380* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1a |
A |
T |
2: 129,148,477 (GRCm39) |
S78T |
possibly damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,582,508 (GRCm39) |
|
probably null |
Het |
| Met |
A |
G |
6: 17,547,061 (GRCm39) |
D898G |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,221 (GRCm39) |
Y127N |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,071 (GRCm39) |
S8P |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,197 (GRCm39) |
T148S |
unknown |
Het |
| Nutm1 |
G |
A |
2: 112,078,817 (GRCm39) |
L1033F |
probably benign |
Het |
| Ocstamp |
G |
T |
2: 165,239,787 (GRCm39) |
A133D |
probably damaging |
Het |
| Or1ab2 |
T |
G |
8: 72,864,253 (GRCm39) |
V281G |
noncoding transcript |
Het |
| Or5p63 |
T |
C |
7: 107,810,995 (GRCm39) |
H247R |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,930,249 (GRCm39) |
D196V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,734 (GRCm39) |
R232Q |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,915,651 (GRCm39) |
P46Q |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,138,749 (GRCm39) |
T236A |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,798 (GRCm39) |
V47A |
probably benign |
Het |
| Rapgef1 |
A |
T |
2: 29,626,011 (GRCm39) |
N1071Y |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf26rt |
C |
A |
6: 76,473,558 (GRCm39) |
A353S |
probably benign |
Het |
| Tango6 |
C |
T |
8: 107,409,882 (GRCm39) |
P33L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,649,691 (GRCm39) |
T36N |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,089,937 (GRCm39) |
R864H |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,304,432 (GRCm39) |
|
probably null |
Het |
| Trav10n |
A |
T |
14: 53,359,929 (GRCm39) |
I69L |
probably benign |
Het |
| Tsks |
A |
G |
7: 44,603,296 (GRCm39) |
Q366R |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,106 (GRCm39) |
S618* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,622,799 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,206 (GRCm39) |
L124* |
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 |
|
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'- GCTGAAGAGGATCCACATGG -3'
(R):5'- GACACACTCTGCTAAGCTGTC -3'
Sequencing Primer
(F):5'- TCCACATGGAGGAGGAATTGAAGAAC -3'
(R):5'- TCTGAGACACTGATTCTCTGAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation