Incidental Mutation 'IGL00391:Elmod1'
| ID |
332361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elmod1
|
| Ensembl Gene |
ENSMUSG00000041986 |
| Gene Name |
ELMO/CED-12 domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
53818741-53882585 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 53831682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048409]
[ENSMUST00000166580]
|
| AlphaFold |
Q3V1U8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048409
|
| SMART Domains |
Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
117 |
295 |
3.8e-49 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166580
|
| SMART Domains |
Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
114 |
296 |
9.6e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216880
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit circling, absent startle reflex, deafness, organ of Corti degeneration and abnormal cochlear hair stereociliary bundle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Elmod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01803:Elmod1
|
APN |
9 |
53,838,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01966:Elmod1
|
APN |
9 |
53,828,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02354:Elmod1
|
APN |
9 |
53,838,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Elmod1
|
APN |
9 |
53,838,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Elmod1
|
APN |
9 |
53,841,507 (GRCm39) |
splice site |
probably benign |
|
|
IGL03277:Elmod1
|
APN |
9 |
53,833,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Elmod1
|
UTSW |
9 |
53,820,185 (GRCm39) |
splice site |
probably benign |
|
|
R0013:Elmod1
|
UTSW |
9 |
53,820,185 (GRCm39) |
splice site |
probably benign |
|
|
R0243:Elmod1
|
UTSW |
9 |
53,842,831 (GRCm39) |
splice site |
probably benign |
|
|
R0530:Elmod1
|
UTSW |
9 |
53,833,260 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0555:Elmod1
|
UTSW |
9 |
53,838,876 (GRCm39) |
splice site |
probably benign |
|
|
R0592:Elmod1
|
UTSW |
9 |
53,833,390 (GRCm39) |
splice site |
probably benign |
|
|
R0670:Elmod1
|
UTSW |
9 |
53,820,106 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1054:Elmod1
|
UTSW |
9 |
53,820,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1195:Elmod1
|
UTSW |
9 |
53,843,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Elmod1
|
UTSW |
9 |
53,843,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Elmod1
|
UTSW |
9 |
53,843,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Elmod1
|
UTSW |
9 |
53,843,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4445:Elmod1
|
UTSW |
9 |
53,841,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Elmod1
|
UTSW |
9 |
53,833,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Elmod1
|
UTSW |
9 |
53,843,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6826:Elmod1
|
UTSW |
9 |
53,826,883 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7181:Elmod1
|
UTSW |
9 |
53,841,382 (GRCm39) |
splice site |
probably null |
|
|
R7334:Elmod1
|
UTSW |
9 |
53,841,508 (GRCm39) |
splice site |
probably null |
|
|
R7422:Elmod1
|
UTSW |
9 |
53,820,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Elmod1
|
UTSW |
9 |
53,838,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8511:Elmod1
|
UTSW |
9 |
53,820,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Elmod1
|
UTSW |
9 |
53,843,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9362:Elmod1
|
UTSW |
9 |
53,833,304 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1088:Elmod1
|
UTSW |
9 |
53,826,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Elmod1
|
UTSW |
9 |
53,854,144 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2015-08-05 |
Incidental Mutation