Incidental Mutation 'R5916:Erich3'
| ID |
461316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich3
|
| Ensembl Gene |
ENSMUSG00000078161 |
| Gene Name |
glutamate rich 3 |
| Synonyms |
5031409G23Rik, 4922501L14Rik |
| MMRRC Submission |
044113-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5916 (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 154401460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 36
(R36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098496]
|
| AlphaFold |
F6QRE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098496
AA Change: R36S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096097
Gene: ENSMUSG00000078161
AA Change: R36S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,349,550 (GRCm39) |
N269I |
possibly damaging |
Het |
| Abcc1 |
G |
T |
16: 14,283,006 (GRCm39) |
V1161F |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 25,174,555 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
T |
8: 125,290,597 (GRCm39) |
S237T |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,512,181 (GRCm39) |
F674L |
probably benign |
Het |
| Asb2 |
G |
T |
12: 103,290,135 (GRCm39) |
A504E |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,748 (GRCm39) |
I1113N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,112,978 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
G |
18: 3,511,463 (GRCm39) |
T95A |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,619,806 (GRCm39) |
M1K |
probably null |
Het |
| Clrn1 |
T |
C |
3: 58,753,783 (GRCm39) |
T193A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,379,873 (GRCm39) |
D437E |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,408,373 (GRCm39) |
A1820S |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,073 (GRCm39) |
I233N |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 20,120,077 (GRCm39) |
N194D |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,102,309 (GRCm39) |
|
probably null |
Het |
| Fam243 |
T |
A |
16: 92,117,559 (GRCm39) |
E243V |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,219,709 (GRCm39) |
C680S |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,275,778 (GRCm39) |
L1129P |
unknown |
Het |
| Fzd3 |
G |
A |
14: 65,440,178 (GRCm39) |
T664I |
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,766,032 (GRCm39) |
I129V |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,449,352 (GRCm39) |
F1950S |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,623,188 (GRCm39) |
G597E |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,286,151 (GRCm39) |
V2101D |
probably damaging |
Het |
| Il17re |
T |
A |
6: 113,447,084 (GRCm39) |
C612S |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,806 (GRCm39) |
*194E |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,505 (GRCm39) |
Y185C |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,057,243 (GRCm39) |
Q186* |
probably null |
Het |
| Lrrn2 |
T |
A |
1: 132,865,538 (GRCm39) |
V201E |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,323,027 (GRCm39) |
T68S |
probably benign |
Het |
| Marchf1 |
G |
T |
8: 66,839,763 (GRCm39) |
R182L |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,333,882 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,794,793 (GRCm39) |
S2708T |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,252,933 (GRCm39) |
T396A |
probably benign |
Het |
| Naip5 |
A |
C |
13: 100,359,209 (GRCm39) |
S676A |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,963,337 (GRCm39) |
W456C |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 58,956,543 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,372,340 (GRCm39) |
*485Q |
probably null |
Het |
| Ocln |
T |
G |
13: 100,642,687 (GRCm39) |
D216A |
possibly damaging |
Het |
| Or10x1 |
A |
T |
1: 174,196,698 (GRCm39) |
T72S |
probably damaging |
Het |
| Or1o11 |
C |
T |
17: 37,756,570 (GRCm39) |
L53F |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,791,175 (GRCm39) |
M81T |
probably damaging |
Het |
| Or55b4 |
G |
A |
7: 102,133,586 (GRCm39) |
S247F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,359,374 (GRCm39) |
M2243K |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,727,779 (GRCm39) |
Y182C |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,979,541 (GRCm39) |
R967L |
possibly damaging |
Het |
| Scube2 |
A |
G |
7: 109,430,931 (GRCm39) |
Y423H |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,312 (GRCm39) |
Y809N |
probably damaging |
Het |
| Slc35f1 |
C |
A |
10: 52,809,317 (GRCm39) |
Y101* |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,098,809 (GRCm39) |
K12E |
possibly damaging |
Het |
| Tent2 |
T |
C |
13: 93,312,055 (GRCm39) |
D215G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,285,429 (GRCm39) |
V646M |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,587 (GRCm39) |
M243K |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,741,513 (GRCm39) |
L732P |
probably damaging |
Het |
| U2af2 |
A |
T |
7: 5,082,179 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,540,795 (GRCm39) |
N1877Y |
probably damaging |
Het |
| Vsir |
C |
T |
10: 60,193,816 (GRCm39) |
T93I |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,142,112 (GRCm39) |
M3K |
possibly damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
|
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'- GTCTACAAATGCAAGGCAGCG -3'
(R):5'- TTCCTTGGTAGCCATTGTAACC -3'
Sequencing Primer
(F):5'- AATGCAAGGCAGCGTGCTC -3'
(R):5'- ACCTCTCTCCTTTGTTTAGAAAGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation