Incidental Mutation 'R2507:Erich3'
ID |
251291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Erich3
|
Ensembl Gene |
ENSMUSG00000078161 |
Gene Name |
glutamate rich 3 |
Synonyms |
5031409G23Rik, 4922501L14Rik |
MMRRC Submission |
040413-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2507 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
154416770-154454649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 154404296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 51
(E51V)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
|
AlphaFold |
F6QRE9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000098496
AA Change: E51V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096097 Gene: ENSMUSG00000078161 AA Change: E51V
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 null
Transcript: ENSMUST00000172865
AA Change: E51V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133995 Gene: ENSMUSG00000042943 AA Change: E51V
Domain | Start | End | E-Value | Type |
Pfam:DUF4590
|
300 |
413 |
2.6e-58 |
PFAM |
low complexity region
|
496 |
524 |
N/A |
INTRINSIC |
low complexity region
|
579 |
592 |
N/A |
INTRINSIC |
low complexity region
|
605 |
617 |
N/A |
INTRINSIC |
low complexity region
|
638 |
648 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
A |
G |
10: 21,497,681 (GRCm39) |
|
probably benign |
Het |
4930535I16Rik |
G |
A |
4: 123,811,740 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
C |
T |
6: 34,286,999 (GRCm39) |
E186K |
probably damaging |
Het |
Apc |
A |
T |
18: 34,449,590 (GRCm39) |
N2128I |
possibly damaging |
Het |
Api5 |
T |
C |
2: 94,260,162 (GRCm39) |
I31M |
probably damaging |
Het |
Armcx4 |
T |
G |
X: 133,596,128 (GRCm39) |
V2012G |
possibly damaging |
Het |
Aurka |
T |
C |
2: 172,212,365 (GRCm39) |
E4G |
probably benign |
Het |
B4galt5 |
T |
A |
2: 167,148,558 (GRCm39) |
M187L |
probably benign |
Het |
Bsn |
T |
C |
9: 107,993,313 (GRCm39) |
D813G |
probably damaging |
Het |
Bub1 |
A |
T |
2: 127,643,343 (GRCm39) |
D1000E |
probably benign |
Het |
Cacna1f |
T |
G |
X: 7,492,687 (GRCm39) |
|
probably null |
Het |
Cdh6 |
A |
G |
15: 13,041,447 (GRCm39) |
I539T |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,088,914 (GRCm39) |
D756G |
probably benign |
Het |
Cenph |
A |
T |
13: 100,907,744 (GRCm39) |
D85E |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clec2h |
A |
G |
6: 128,650,945 (GRCm39) |
N75S |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Cox4i1 |
T |
A |
8: 121,400,029 (GRCm39) |
V51E |
possibly damaging |
Het |
Cpne3 |
A |
T |
4: 19,553,871 (GRCm39) |
N53K |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,303,301 (GRCm39) |
F585L |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,021,997 (GRCm39) |
D732N |
probably damaging |
Het |
Dner |
A |
T |
1: 84,560,801 (GRCm39) |
C115S |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,395,170 (GRCm39) |
F759Y |
probably damaging |
Het |
Dst |
T |
C |
1: 34,050,990 (GRCm39) |
Y29H |
probably damaging |
Het |
Dst |
T |
C |
1: 34,227,498 (GRCm39) |
V1875A |
possibly damaging |
Het |
Duox1 |
A |
G |
2: 122,163,619 (GRCm39) |
D817G |
probably benign |
Het |
Emc2 |
A |
T |
15: 43,375,094 (GRCm39) |
|
probably null |
Het |
Exoc2 |
A |
G |
13: 31,066,348 (GRCm39) |
Y443H |
possibly damaging |
Het |
Fbf1 |
T |
C |
11: 116,046,252 (GRCm39) |
R200G |
probably benign |
Het |
Fdxr |
G |
A |
11: 115,162,806 (GRCm39) |
T100I |
probably damaging |
Het |
Galnt11 |
C |
G |
5: 25,452,610 (GRCm39) |
P41A |
probably damaging |
Het |
Galnt4 |
A |
G |
10: 98,945,148 (GRCm39) |
K291R |
possibly damaging |
Het |
Gm12695 |
T |
A |
4: 96,642,426 (GRCm39) |
E301V |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,229,422 (GRCm39) |
|
probably null |
Het |
Gria1 |
A |
T |
11: 57,180,146 (GRCm39) |
T699S |
probably null |
Het |
Gsr |
T |
G |
8: 34,170,316 (GRCm39) |
D200E |
probably benign |
Het |
Ikzf2 |
G |
A |
1: 69,578,447 (GRCm39) |
A282V |
probably benign |
Het |
Irak2 |
T |
C |
6: 113,624,639 (GRCm39) |
I45T |
probably damaging |
Het |
Irx1 |
T |
C |
13: 72,107,939 (GRCm39) |
K248E |
probably damaging |
Het |
Kcns3 |
A |
C |
12: 11,142,087 (GRCm39) |
V204G |
possibly damaging |
Het |
Lmo1 |
C |
A |
7: 108,739,848 (GRCm39) |
M91I |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,666,677 (GRCm39) |
D623G |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,866,551 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
A |
12: 111,593,676 (GRCm39) |
V236E |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,786,711 (GRCm39) |
D939G |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,242 (GRCm39) |
C142R |
possibly damaging |
Het |
N4bp2 |
T |
A |
5: 65,947,404 (GRCm39) |
D11E |
probably benign |
Het |
Ntng2 |
T |
C |
2: 29,097,531 (GRCm39) |
N310S |
probably damaging |
Het |
Or10ak7 |
T |
C |
4: 118,791,122 (GRCm39) |
M308V |
probably benign |
Het |
Or6b3 |
A |
G |
1: 92,439,100 (GRCm39) |
S217P |
probably damaging |
Het |
Pcolce |
A |
G |
5: 137,605,313 (GRCm39) |
V260A |
possibly damaging |
Het |
Pds5b |
C |
A |
5: 150,679,893 (GRCm39) |
T533K |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,301,135 (GRCm39) |
Y268H |
probably benign |
Het |
Phax |
T |
A |
18: 56,719,956 (GRCm39) |
F299Y |
probably damaging |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,448 (GRCm39) |
K161N |
possibly damaging |
Het |
Prpf39 |
T |
A |
12: 65,104,589 (GRCm39) |
F551L |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ralgapa1 |
G |
A |
12: 55,764,986 (GRCm39) |
P889S |
probably damaging |
Het |
Rpap1 |
A |
G |
2: 119,610,535 (GRCm39) |
|
probably null |
Het |
Rufy3 |
T |
C |
5: 88,797,757 (GRCm39) |
S645P |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Spata7 |
G |
T |
12: 98,624,709 (GRCm39) |
A172S |
probably benign |
Het |
Stk35 |
A |
G |
2: 129,643,435 (GRCm39) |
T140A |
probably damaging |
Het |
Thop1 |
T |
G |
10: 80,906,098 (GRCm39) |
M1R |
probably null |
Het |
Tlr1 |
T |
C |
5: 65,082,639 (GRCm39) |
Y646C |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,040,609 (GRCm39) |
Y290C |
probably benign |
Het |
Tpr |
A |
G |
1: 150,268,695 (GRCm39) |
M1V |
probably null |
Het |
Trim6 |
T |
C |
7: 103,877,392 (GRCm39) |
F161L |
probably damaging |
Het |
Ubash3b |
T |
C |
9: 41,068,650 (GRCm39) |
K25E |
possibly damaging |
Het |
Unc45b |
G |
A |
11: 82,830,963 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
G |
1: 66,651,266 (GRCm39) |
N1537S |
possibly damaging |
Het |
Usb1 |
T |
C |
8: 96,069,752 (GRCm39) |
F100S |
probably damaging |
Het |
Vmn1r17 |
C |
A |
6: 57,338,244 (GRCm39) |
L40F |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,110 (GRCm39) |
M280K |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,493 (GRCm39) |
C524S |
probably damaging |
Het |
Zfp426 |
T |
C |
9: 20,381,727 (GRCm39) |
K420R |
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 |
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 |
|
|
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'- GACAATGGTATTCTCCTTAGGCT -3'
(R):5'- ACTTGAGAGTCCAGGCTTCT -3'
Sequencing Primer
(F):5'- GCTTTGAAAAGGCCACTTTCC -3'
(R):5'- CTTGAGAGTCCAGGCTTCTAGATAC -3'
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Posted On |
2014-12-04 |