Incidental Mutation 'R6989:Erich3'
ID |
543128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Erich3
|
Ensembl Gene |
ENSMUSG00000078161 |
Gene Name |
glutamate rich 3 |
Synonyms |
5031409G23Rik, 4922501L14Rik |
MMRRC Submission |
045095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6989 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 154469314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
[ENSMUST00000189969]
|
AlphaFold |
F6QRE9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000098496
AA Change: R1255S
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161 AA Change: R1255S
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: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
C |
T |
11: 3,840,076 (GRCm39) |
R107H |
probably damaging |
Het |
4930438A08Rik |
T |
C |
11: 58,178,228 (GRCm39) |
V96A |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,820,611 (GRCm39) |
D1370G |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,634,707 (GRCm39) |
N186Y |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,035,414 (GRCm39) |
V106A |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,164,226 (GRCm39) |
F251S |
probably damaging |
Het |
Akr1c6 |
T |
A |
13: 4,499,045 (GRCm39) |
I33N |
probably damaging |
Het |
Alk |
A |
C |
17: 72,204,947 (GRCm39) |
M1075R |
probably benign |
Het |
Amh |
A |
G |
10: 80,641,338 (GRCm39) |
Q86R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,124,611 (GRCm39) |
Y951H |
probably damaging |
Het |
Arhgap26 |
G |
T |
18: 39,232,682 (GRCm39) |
R119L |
probably damaging |
Het |
Arl8a |
A |
G |
1: 135,074,735 (GRCm39) |
K7R |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,937,984 (GRCm39) |
S2638A |
probably benign |
Het |
Ccdc162 |
T |
G |
10: 41,457,349 (GRCm39) |
Q256H |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,940,888 (GRCm39) |
L679Q |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,625,891 (GRCm39) |
H203Q |
probably benign |
Het |
Cpne9 |
A |
T |
6: 113,277,544 (GRCm39) |
D421V |
possibly damaging |
Het |
Cux1 |
A |
T |
5: 136,308,502 (GRCm39) |
C1212* |
probably null |
Het |
Dock9 |
G |
A |
14: 121,864,791 (GRCm39) |
H736Y |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,971,195 (GRCm39) |
V214E |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,028,746 (GRCm39) |
E161G |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,156,637 (GRCm39) |
Y774* |
probably null |
Het |
Enpep |
G |
T |
3: 129,074,599 (GRCm39) |
P717H |
probably damaging |
Het |
Fbp2 |
C |
T |
13: 63,005,991 (GRCm39) |
A41T |
probably damaging |
Het |
Fbxl21 |
T |
C |
13: 56,674,874 (GRCm39) |
V75A |
probably damaging |
Het |
Fkbp5 |
C |
T |
17: 28,634,919 (GRCm39) |
D197N |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,298 (GRCm39) |
T1206A |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,345,380 (GRCm39) |
V156A |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,901,945 (GRCm39) |
K156R |
probably damaging |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,184,766 (GRCm39) |
E366K |
probably damaging |
Het |
Haao |
T |
C |
17: 84,139,103 (GRCm39) |
Q277R |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,060,753 (GRCm39) |
S694P |
|
Het |
Lrp10 |
A |
G |
14: 54,705,950 (GRCm39) |
D380G |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,302,799 (GRCm39) |
D2977Y |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,454,065 (GRCm39) |
M985K |
probably benign |
Het |
Met |
C |
A |
6: 17,535,927 (GRCm39) |
N784K |
possibly damaging |
Het |
Met |
T |
A |
6: 17,535,928 (GRCm39) |
Y65N |
probably damaging |
Het |
Muc6 |
T |
G |
7: 141,226,246 (GRCm39) |
|
probably benign |
Het |
Numbl |
T |
A |
7: 26,980,265 (GRCm39) |
W416R |
probably damaging |
Het |
Nup160 |
G |
A |
2: 90,537,364 (GRCm39) |
S746N |
probably benign |
Het |
Pcca |
G |
A |
14: 122,887,700 (GRCm39) |
G102D |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,163 (GRCm39) |
Y493F |
possibly damaging |
Het |
Psmc2 |
T |
A |
5: 22,006,217 (GRCm39) |
F243L |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rpn1 |
G |
T |
6: 88,076,285 (GRCm39) |
V357L |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,433,856 (GRCm39) |
F712S |
possibly damaging |
Het |
Scgb1b10 |
T |
A |
7: 31,800,574 (GRCm39) |
D54E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,315,395 (GRCm39) |
I1771T |
probably damaging |
Het |
Sec14l1 |
A |
G |
11: 117,047,220 (GRCm39) |
I633V |
probably damaging |
Het |
Slc17a6 |
T |
C |
7: 51,311,224 (GRCm39) |
Y313H |
possibly damaging |
Het |
Slc18a1 |
G |
A |
8: 69,491,514 (GRCm39) |
T500I |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,813,702 (GRCm39) |
A93V |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,107,974 (GRCm39) |
S148P |
probably benign |
Het |
Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trav3-3 |
C |
A |
14: 53,903,802 (GRCm39) |
P40Q |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,602,390 (GRCm39) |
L332Q |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,897,033 (GRCm39) |
V55G |
probably damaging |
Het |
Ufm1 |
T |
C |
3: 53,765,402 (GRCm39) |
K69E |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,614,102 (GRCm39) |
D1284G |
probably benign |
Het |
Vil1 |
C |
T |
1: 74,463,113 (GRCm39) |
T432I |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,448,727 (GRCm39) |
I567K |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,646,488 (GRCm39) |
V1023D |
probably damaging |
Het |
Zfp429 |
A |
G |
13: 67,538,080 (GRCm39) |
Y455H |
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 |
|
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'- ACCATGAACTCTGTAAGGAAGAC -3'
(R):5'- TGCTTCAGACAAGGTAATGGC -3'
Sequencing Primer
(F):5'- CATGAACTCTGTAAGGAAGACACAGC -3'
(R):5'- GCTTCAGACAAGGTAATGGCTCTTTC -3'
|
Posted On |
2018-11-28 |