Incidental Mutation 'R0592:Elmod1'
| ID |
56027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elmod1
|
| Ensembl Gene |
ENSMUSG00000041986 |
| Gene Name |
ELMO/CED-12 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53818741-53882585 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 53833390 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 benign
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 benign
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Elmod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Elmod1
|
APN |
9 |
53,831,682 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACTAGCACATTGCCCTAATGC -3'
(R):5'- ACACCAGGTGACCTCAACATTTTCC -3'
Sequencing Primer
(F):5'- ATTGCCCTAATGCTCAACCATC -3'
(R):5'- TTGTCTTCAAAGCAACAGCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation