Incidental Mutation 'R3981:Erich6'
ID |
351152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Erich6
|
Ensembl Gene |
ENSMUSG00000070471 |
Gene Name |
glutamate rich 6 |
Synonyms |
4932431H17Rik, Fam194a |
MMRRC Submission |
040943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R3981 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
58523721-58544628 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58544125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 154
(E154G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041115]
|
AlphaFold |
D3Z6S9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041115
AA Change: E154G
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000040882 Gene: ENSMUSG00000070471 AA Change: E154G
Domain | Start | End | E-Value | Type |
coiled coil region
|
27 |
77 |
N/A |
INTRINSIC |
low complexity region
|
164 |
174 |
N/A |
INTRINSIC |
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
Pfam:FAM194
|
473 |
675 |
5.4e-67 |
PFAM |
|
Meta Mutation Damage Score |
0.1380 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,482,407 (GRCm39) |
C4313G |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bhlhe22 |
G |
T |
3: 18,109,058 (GRCm39) |
R36L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,609,314 (GRCm39) |
E18G |
probably benign |
Het |
Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
Cep295 |
G |
T |
9: 15,228,363 (GRCm39) |
|
probably benign |
Het |
Cep89 |
A |
G |
7: 35,137,808 (GRCm39) |
R731G |
probably damaging |
Het |
Chrnb3 |
C |
T |
8: 27,884,034 (GRCm39) |
T257M |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,631,797 (GRCm39) |
K236R |
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
Cry1 |
A |
T |
10: 84,982,456 (GRCm39) |
Y297N |
probably damaging |
Het |
Defb38 |
A |
G |
8: 19,076,483 (GRCm39) |
|
probably null |
Het |
Dlgap1 |
A |
G |
17: 70,823,780 (GRCm39) |
K255R |
probably damaging |
Het |
Esf1 |
G |
A |
2: 140,000,476 (GRCm39) |
P437S |
probably benign |
Het |
Fkbp7 |
A |
C |
2: 76,493,601 (GRCm39) |
N197K |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,789,006 (GRCm39) |
D342E |
probably benign |
Het |
Gbx1 |
T |
C |
5: 24,731,213 (GRCm39) |
D201G |
probably benign |
Het |
Gm15056 |
T |
A |
8: 21,390,957 (GRCm39) |
K25N |
possibly damaging |
Het |
Grb7 |
T |
G |
11: 98,345,391 (GRCm39) |
|
probably benign |
Het |
H2-M3 |
C |
T |
17: 37,582,021 (GRCm39) |
A159V |
probably damaging |
Het |
Hcar1 |
T |
C |
5: 124,016,683 (GRCm39) |
N336S |
probably benign |
Het |
Ift122 |
T |
C |
6: 115,890,882 (GRCm39) |
V807A |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,532,364 (GRCm39) |
V526A |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,469 (GRCm39) |
D57G |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,367,512 (GRCm39) |
C2274R |
possibly damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,186 (GRCm39) |
Y278F |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
Ros1 |
G |
A |
10: 51,996,974 (GRCm39) |
H1233Y |
possibly damaging |
Het |
Samd8 |
A |
G |
14: 21,830,248 (GRCm39) |
R225G |
probably null |
Het |
Slc7a11 |
C |
A |
3: 50,382,223 (GRCm39) |
V175L |
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,182,925 (GRCm39) |
T156A |
possibly damaging |
Het |
Spata31g1 |
C |
T |
4: 42,971,534 (GRCm39) |
T289I |
probably damaging |
Het |
Spmip9 |
T |
C |
6: 70,890,283 (GRCm39) |
N170D |
possibly damaging |
Het |
Stxbp5 |
T |
C |
10: 9,665,060 (GRCm39) |
|
probably benign |
Het |
Tec |
T |
A |
5: 72,980,942 (GRCm39) |
|
probably benign |
Het |
Vps16 |
T |
C |
2: 130,284,514 (GRCm39) |
W728R |
possibly damaging |
Het |
Xirp1 |
T |
C |
9: 119,846,810 (GRCm39) |
E691G |
probably damaging |
Het |
Zfp605 |
T |
C |
5: 110,275,604 (GRCm39) |
S241P |
probably damaging |
Het |
Zfp839 |
G |
A |
12: 110,832,765 (GRCm39) |
G561D |
probably damaging |
Het |
|
Other mutations in Erich6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00583:Erich6
|
APN |
3 |
58,544,464 (GRCm39) |
missense |
unknown |
|
IGL01352:Erich6
|
APN |
3 |
58,529,781 (GRCm39) |
splice site |
probably null |
|
IGL01362:Erich6
|
APN |
3 |
58,529,781 (GRCm39) |
splice site |
probably null |
|
IGL01928:Erich6
|
APN |
3 |
58,528,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02930:Erich6
|
APN |
3 |
58,529,775 (GRCm39) |
splice site |
probably benign |
|
IGL03125:Erich6
|
APN |
3 |
58,531,727 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4243001:Erich6
|
UTSW |
3 |
58,537,300 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0081:Erich6
|
UTSW |
3 |
58,543,547 (GRCm39) |
splice site |
probably benign |
|
R0129:Erich6
|
UTSW |
3 |
58,531,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Erich6
|
UTSW |
3 |
58,543,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R0682:Erich6
|
UTSW |
3 |
58,544,232 (GRCm39) |
missense |
probably benign |
0.39 |
R0734:Erich6
|
UTSW |
3 |
58,536,809 (GRCm39) |
splice site |
probably benign |
|
R0744:Erich6
|
UTSW |
3 |
58,543,543 (GRCm39) |
splice site |
probably benign |
|
R0833:Erich6
|
UTSW |
3 |
58,526,365 (GRCm39) |
splice site |
probably benign |
|
R0836:Erich6
|
UTSW |
3 |
58,526,365 (GRCm39) |
splice site |
probably benign |
|
R1385:Erich6
|
UTSW |
3 |
58,544,251 (GRCm39) |
missense |
probably benign |
0.00 |
R1536:Erich6
|
UTSW |
3 |
58,534,019 (GRCm39) |
missense |
probably benign |
0.01 |
R1570:Erich6
|
UTSW |
3 |
58,538,080 (GRCm39) |
critical splice donor site |
probably null |
|
R1708:Erich6
|
UTSW |
3 |
58,523,868 (GRCm39) |
missense |
probably benign |
0.21 |
R2187:Erich6
|
UTSW |
3 |
58,537,266 (GRCm39) |
critical splice donor site |
probably null |
|
R2268:Erich6
|
UTSW |
3 |
58,526,260 (GRCm39) |
missense |
probably benign |
0.03 |
R2441:Erich6
|
UTSW |
3 |
58,526,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R3803:Erich6
|
UTSW |
3 |
58,528,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4166:Erich6
|
UTSW |
3 |
58,526,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4298:Erich6
|
UTSW |
3 |
58,531,712 (GRCm39) |
missense |
probably benign |
0.09 |
R4729:Erich6
|
UTSW |
3 |
58,543,480 (GRCm39) |
critical splice donor site |
probably null |
|
R4838:Erich6
|
UTSW |
3 |
58,544,251 (GRCm39) |
missense |
probably benign |
0.00 |
R5117:Erich6
|
UTSW |
3 |
58,530,626 (GRCm39) |
missense |
probably benign |
0.00 |
R5305:Erich6
|
UTSW |
3 |
58,532,537 (GRCm39) |
missense |
probably benign |
0.21 |
R5546:Erich6
|
UTSW |
3 |
58,526,218 (GRCm39) |
missense |
probably benign |
0.39 |
R5605:Erich6
|
UTSW |
3 |
58,532,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Erich6
|
UTSW |
3 |
58,530,622 (GRCm39) |
missense |
probably benign |
0.16 |
R6033:Erich6
|
UTSW |
3 |
58,530,622 (GRCm39) |
missense |
probably benign |
0.16 |
R6378:Erich6
|
UTSW |
3 |
58,529,780 (GRCm39) |
splice site |
probably null |
|
R6606:Erich6
|
UTSW |
3 |
58,523,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Erich6
|
UTSW |
3 |
58,532,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Erich6
|
UTSW |
3 |
58,523,987 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6974:Erich6
|
UTSW |
3 |
58,526,220 (GRCm39) |
missense |
probably benign |
0.06 |
R6996:Erich6
|
UTSW |
3 |
58,543,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Erich6
|
UTSW |
3 |
58,544,305 (GRCm39) |
missense |
probably benign |
0.26 |
R7484:Erich6
|
UTSW |
3 |
58,534,112 (GRCm39) |
splice site |
probably null |
|
R7526:Erich6
|
UTSW |
3 |
58,538,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Erich6
|
UTSW |
3 |
58,526,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7947:Erich6
|
UTSW |
3 |
58,528,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8358:Erich6
|
UTSW |
3 |
58,544,449 (GRCm39) |
nonsense |
probably null |
|
R8944:Erich6
|
UTSW |
3 |
58,537,275 (GRCm39) |
missense |
probably benign |
0.16 |
R8965:Erich6
|
UTSW |
3 |
58,531,738 (GRCm39) |
missense |
probably benign |
0.02 |
R9342:Erich6
|
UTSW |
3 |
58,534,101 (GRCm39) |
nonsense |
probably null |
|
R9429:Erich6
|
UTSW |
3 |
58,536,935 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9622:Erich6
|
UTSW |
3 |
58,544,162 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9624:Erich6
|
UTSW |
3 |
58,536,766 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9633:Erich6
|
UTSW |
3 |
58,537,277 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGCCTGTTACTTTTACTAACCG -3'
(R):5'- CTGTTCCCTGAGTCGTTGAAC -3'
Sequencing Primer
(F):5'- ACACTAGGGGCCATCATGG -3'
(R):5'- CGTTGAACGAAGAAGACATCTG -3'
|
Posted On |
2015-10-08 |