Incidental Mutation 'IGL01362:Erich6'
ID |
278313 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Erich6
|
Ensembl Gene |
ENSMUSG00000070471 |
Gene Name |
glutamate rich 6 |
Synonyms |
4932431H17Rik, Fam194a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL01362
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
58523721-58544628 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
G to A
at 58529781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041115]
|
AlphaFold |
D3Z6S9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041115
|
SMART Domains |
Protein: ENSMUSP00000040882 Gene: ENSMUSG00000070471
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
Bmp8a |
C |
A |
4: 123,207,094 (GRCm39) |
R389L |
probably damaging |
Het |
Ccdc148 |
A |
G |
2: 58,719,811 (GRCm39) |
V488A |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
Dusp1 |
A |
G |
17: 26,725,618 (GRCm39) |
I247T |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,199 (GRCm39) |
T376A |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,228,072 (GRCm39) |
E570G |
probably damaging |
Het |
Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
Plppr3 |
C |
T |
10: 79,701,795 (GRCm39) |
R349Q |
probably damaging |
Het |
Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
probably benign |
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 |
|
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 |
R3981:Erich6
|
UTSW |
3 |
58,544,125 (GRCm39) |
missense |
probably benign |
0.41 |
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 |
|
Posted On |
2015-04-16 |