Incidental Mutation 'R0670:Elmod1'
ID |
61399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elmod1
|
Ensembl Gene |
ENSMUSG00000041986 |
Gene Name |
ELMO/CED-12 domain containing 1 |
Synonyms |
|
MMRRC Submission |
038855-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0670 (G1)
|
Quality Score |
120 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
53818741-53882585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53820106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 294
(V294A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048409]
[ENSMUST00000166580]
|
AlphaFold |
Q3V1U8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048409
AA Change: V294A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046191 Gene: ENSMUSG00000041986 AA Change: V294A
Domain | Start | End | E-Value | Type |
Pfam:ELMO_CED12
|
117 |
295 |
3.8e-49 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166580
AA Change: V294A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129082 Gene: ENSMUSG00000041986 AA Change: V294A
Domain | Start | End | E-Value | Type |
Pfam:ELMO_CED12
|
114 |
296 |
9.6e-53 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215313
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
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 |
|
R0592:Elmod1
|
UTSW |
9 |
53,833,390 (GRCm39) |
splice site |
probably benign |
|
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'- AGGGTTGATGCTCCAGAAATGGTG -3'
(R):5'- GCAGCTTGGTAGCTTCTACTCCAC -3'
Sequencing Primer
(F):5'- TGTGTGAGCTGTCACCTAAGC -3'
(R):5'- ACTCCACTGATCTCACTAATCATTG -3'
|
Posted On |
2013-07-30 |