Incidental Mutation 'IGL02354:Elmod1'
| ID |
289613 |
| 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 # |
IGL02354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
53818741-53882585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53838842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 106
(L106P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048409]
[ENSMUST00000166580]
|
| AlphaFold |
Q3V1U8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048409
AA Change: L106P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986
AA Change: L106P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
117 |
295 |
3.8e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166580
AA Change: L106P
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986
AA Change: L106P
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
| Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
| Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
| Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
| Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
| Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,057,534 (GRCm39) |
S376P |
probably damaging |
Het |
| Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
| Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
| Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
| Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
| Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
| Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
| Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
| Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
G |
T |
8: 89,759,677 (GRCm39) |
S142R |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,257,319 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
| Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
| Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation