Incidental Mutation 'R3147:Elmod3'
ID |
264283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elmod3
|
Ensembl Gene |
ENSMUSG00000056698 |
Gene Name |
ELMO/CED-12 domain containing 3 |
Synonyms |
Rbed1, ELMOD3, C330008I15Rik, RBM29 |
MMRRC Submission |
040599-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
72542905-72575396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 72563485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 48
(T48P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070990]
[ENSMUST00000114069]
[ENSMUST00000141833]
[ENSMUST00000148108]
[ENSMUST00000152705]
|
AlphaFold |
Q91YP6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070990
AA Change: T48P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000067768 Gene: ENSMUSG00000056698 AA Change: T48P
Domain | Start | End | E-Value | Type |
Pfam:ELMO_CED12
|
151 |
314 |
3.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114069
AA Change: T48P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000109703 Gene: ENSMUSG00000056698 AA Change: T48P
Domain | Start | End | E-Value | Type |
Pfam:ELMO_CED12
|
154 |
313 |
1.2e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140825
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141833
AA Change: T48P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148108
AA Change: T12P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152705
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
Amy1 |
T |
C |
3: 113,363,697 (GRCm39) |
|
probably benign |
Het |
Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
Atf2 |
T |
C |
2: 73,681,283 (GRCm39) |
|
probably null |
Het |
Atosa |
A |
G |
9: 74,916,120 (GRCm39) |
I240V |
probably benign |
Het |
Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,805,822 (GRCm39) |
N311S |
probably damaging |
Het |
Dbx1 |
C |
A |
7: 49,286,297 (GRCm39) |
R56L |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,194,003 (GRCm39) |
|
probably null |
Het |
Erbb2 |
T |
C |
11: 98,324,865 (GRCm39) |
S820P |
probably damaging |
Het |
Gimap8 |
T |
C |
6: 48,627,440 (GRCm39) |
V138A |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,285 (GRCm39) |
|
probably benign |
Het |
Il6ra |
G |
T |
3: 89,793,235 (GRCm39) |
P305Q |
probably benign |
Het |
Kcng3 |
A |
G |
17: 83,895,749 (GRCm39) |
V239A |
possibly damaging |
Het |
Kcnrg |
T |
C |
14: 61,845,140 (GRCm39) |
F60S |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,044,653 (GRCm39) |
D184G |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,065,771 (GRCm39) |
L206Q |
probably damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,277 (GRCm39) |
D344G |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
Mtcl2 |
T |
G |
2: 156,862,284 (GRCm39) |
K1548N |
possibly damaging |
Het |
Mtfr1 |
T |
C |
3: 19,271,374 (GRCm39) |
V182A |
probably benign |
Het |
Or14a259 |
A |
G |
7: 86,013,092 (GRCm39) |
L151S |
probably benign |
Het |
Or5p64 |
C |
T |
7: 107,854,883 (GRCm39) |
G154D |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGAGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
Sox7 |
A |
T |
14: 64,186,083 (GRCm39) |
Y373F |
probably damaging |
Het |
Tuba1b |
T |
C |
15: 98,830,386 (GRCm39) |
T145A |
probably benign |
Het |
Usp32 |
T |
A |
11: 84,919,913 (GRCm39) |
N718I |
probably damaging |
Het |
Wapl |
G |
A |
14: 34,447,106 (GRCm39) |
V648M |
probably damaging |
Het |
Zfp85 |
C |
T |
13: 67,900,612 (GRCm39) |
V10M |
probably damaging |
Het |
Zgrf1 |
A |
G |
3: 127,377,797 (GRCm39) |
N1014S |
possibly damaging |
Het |
|
Other mutations in Elmod3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01818:Elmod3
|
APN |
6 |
72,563,490 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02725:Elmod3
|
APN |
6 |
72,571,758 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03089:Elmod3
|
APN |
6 |
72,546,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Elmod3
|
UTSW |
6 |
72,543,792 (GRCm39) |
missense |
probably benign |
|
R0173:Elmod3
|
UTSW |
6 |
72,554,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R0925:Elmod3
|
UTSW |
6 |
72,545,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1602:Elmod3
|
UTSW |
6 |
72,546,242 (GRCm39) |
critical splice donor site |
probably null |
|
R5594:Elmod3
|
UTSW |
6 |
72,571,799 (GRCm39) |
unclassified |
probably benign |
|
R5870:Elmod3
|
UTSW |
6 |
72,571,721 (GRCm39) |
critical splice donor site |
probably null |
|
R6045:Elmod3
|
UTSW |
6 |
72,545,851 (GRCm39) |
missense |
probably benign |
|
R7173:Elmod3
|
UTSW |
6 |
72,554,235 (GRCm39) |
critical splice donor site |
probably null |
|
R7229:Elmod3
|
UTSW |
6 |
72,571,736 (GRCm39) |
missense |
probably benign |
0.09 |
R8534:Elmod3
|
UTSW |
6 |
72,543,667 (GRCm39) |
missense |
probably benign |
0.01 |
R8887:Elmod3
|
UTSW |
6 |
72,563,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R9060:Elmod3
|
UTSW |
6 |
72,543,790 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Elmod3
|
UTSW |
6 |
72,543,672 (GRCm39) |
missense |
probably benign |
0.37 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTACAGAATTCTGAAAGAGAGTG -3'
(R):5'- TATGCACTGGGCTCTGAGTC -3'
Sequencing Primer
(F):5'- TTCTGAAAGAGAGTGCGAGAGC -3'
(R):5'- TCTTCTGAGAACACCCAAGGTTG -3'
|
Posted On |
2015-02-05 |