Incidental Mutation 'R7400:Erich3'
| ID |
574086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich3
|
| Ensembl Gene |
ENSMUSG00000078161 |
| Gene Name |
glutamate rich 3 |
| Synonyms |
5031409G23Rik, 4922501L14Rik |
| MMRRC Submission |
045482-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7400 (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 G
at 154468214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 889
(K889E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
[ENSMUST00000189969]
|
| AlphaFold |
F6QRE9 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: K889E
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,496,547 (GRCm39) |
S118P |
unknown |
Het |
| Ahnak |
T |
A |
19: 8,991,977 (GRCm39) |
D4420E |
probably damaging |
Het |
| Atp5mc2 |
C |
T |
15: 102,573,547 (GRCm39) |
A90T |
possibly damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,523,493 (GRCm39) |
R112H |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 100,006,192 (GRCm39) |
Y132N |
probably damaging |
Het |
| Cfap70 |
A |
C |
14: 20,458,335 (GRCm39) |
S793A |
probably benign |
Het |
| Cmip |
A |
G |
8: 117,984,144 (GRCm39) |
|
probably null |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,223 (GRCm39) |
N197S |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,987,555 (GRCm39) |
D1067G |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,622,367 (GRCm39) |
L1033P |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,713,103 (GRCm39) |
A1981D |
possibly damaging |
Het |
| Eci3 |
T |
C |
13: 35,143,960 (GRCm39) |
D55G |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,831,432 (GRCm39) |
D174E |
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,684,581 (GRCm39) |
E406G |
possibly damaging |
Het |
| Fat4 |
C |
A |
3: 38,942,073 (GRCm39) |
T322K |
probably damaging |
Het |
| Fitm1 |
A |
T |
14: 55,814,226 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
| Gpsm2 |
T |
A |
3: 108,587,004 (GRCm39) |
D644V |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,092,847 (GRCm39) |
L75M |
possibly damaging |
Het |
| Gvin2 |
T |
A |
7: 105,551,247 (GRCm39) |
I602F |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,550,181 (GRCm39) |
I2668V |
probably damaging |
Het |
| Hoxa7 |
A |
G |
6: 52,194,033 (GRCm39) |
I118T |
possibly damaging |
Het |
| Hsp90ab1 |
A |
G |
17: 45,880,210 (GRCm39) |
V473A |
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,081,801 (GRCm39) |
|
probably null |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,837 (GRCm39) |
S40P |
probably damaging |
Het |
| Inhca |
T |
A |
9: 103,127,861 (GRCm39) |
E690V |
probably benign |
Het |
| Kif28 |
A |
C |
1: 179,527,839 (GRCm39) |
W771G |
probably damaging |
Het |
| Klf13 |
G |
C |
7: 63,587,996 (GRCm39) |
A100G |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,305,933 (GRCm39) |
E300G |
possibly damaging |
Het |
| Krt40 |
A |
G |
11: 99,433,969 (GRCm39) |
S6P |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,741,072 (GRCm39) |
R800W |
probably damaging |
Het |
| Mef2d |
T |
C |
3: 88,075,038 (GRCm39) |
L408P |
possibly damaging |
Het |
| Mmp10 |
T |
A |
9: 7,503,301 (GRCm39) |
M87K |
probably damaging |
Het |
| Mrgprd |
T |
A |
7: 144,875,643 (GRCm39) |
H171Q |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,137,953 (GRCm39) |
T265I |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,750,939 (GRCm39) |
N570D |
|
Het |
| Nfs1 |
T |
A |
2: 155,968,243 (GRCm39) |
I408F |
probably damaging |
Het |
| Npdc1 |
G |
T |
2: 25,296,257 (GRCm39) |
C48F |
probably damaging |
Het |
| Or2j3 |
A |
T |
17: 38,616,222 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or52e7 |
T |
C |
7: 104,684,417 (GRCm39) |
I4T |
probably benign |
Het |
| Or52j3 |
T |
C |
7: 102,836,587 (GRCm39) |
S260P |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,748,678 (GRCm39) |
L185H |
probably damaging |
Het |
| Osbpl2 |
T |
C |
2: 179,795,114 (GRCm39) |
M332T |
probably benign |
Het |
| Ostm1 |
T |
A |
10: 42,574,213 (GRCm39) |
V302D |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,542,532 (GRCm39) |
D672G |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,201,762 (GRCm39) |
K392* |
probably null |
Het |
| Pnpla1 |
A |
T |
17: 29,077,950 (GRCm39) |
D37V |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,129,026 (GRCm39) |
S198P |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,176,932 (GRCm39) |
N1911K |
probably damaging |
Het |
| Ripply3 |
C |
A |
16: 94,136,759 (GRCm39) |
A140E |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,928,015 (GRCm39) |
C8R |
possibly damaging |
Het |
| Slamf6 |
T |
C |
1: 171,747,360 (GRCm39) |
S41P |
unknown |
Het |
| Slc15a5 |
A |
G |
6: 138,050,055 (GRCm39) |
M120T |
probably benign |
Het |
| Slc25a20 |
T |
G |
9: 108,559,172 (GRCm39) |
D179E |
possibly damaging |
Het |
| Sltm |
T |
A |
9: 70,493,352 (GRCm39) |
V783E |
probably damaging |
Het |
| Smc1b |
C |
A |
15: 84,953,921 (GRCm39) |
R1116L |
probably damaging |
Het |
| Smim23 |
A |
G |
11: 32,774,471 (GRCm39) |
V16A |
probably benign |
Het |
| Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,201,052 (GRCm39) |
D2525G |
probably damaging |
Het |
| St14 |
A |
C |
9: 31,019,571 (GRCm39) |
N83K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,879,341 (GRCm39) |
N713S |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,168,580 (GRCm39) |
L5267H |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,344,010 (GRCm39) |
L271P |
probably damaging |
Het |
| Tfap2d |
C |
T |
1: 19,213,150 (GRCm39) |
H325Y |
possibly damaging |
Het |
| Trav23 |
A |
G |
14: 54,215,020 (GRCm39) |
R78G |
probably benign |
Het |
| Ttc39c |
A |
T |
18: 12,776,856 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,070,889 (GRCm39) |
D1228G |
probably damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,874 (GRCm39) |
H53L |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,379,046 (GRCm39) |
L53F |
probably damaging |
Het |
| Zfp532 |
C |
T |
18: 65,771,984 (GRCm39) |
T834M |
possibly damaging |
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 |
|
|
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'- TGCTGGCATAGATGTGGAAC -3'
(R):5'- GGTGAGTACCATCTTCCTGC -3'
Sequencing Primer
(F):5'- CAGGAAGATGGTACCTGTCATCC -3'
(R):5'- GAGTACCATCTTCCTGCATCCCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation