Incidental Mutation 'R0925:Elmod3'
| ID |
83139 |
| 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 |
039072-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
72542905-72575396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72545921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 274
(C274S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070990]
[ENSMUST00000114069]
[ENSMUST00000141833]
[ENSMUST00000148108]
|
| AlphaFold |
Q91YP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070990
AA Change: C274S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698
AA Change: C274S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
151 |
314 |
3.3e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114069
AA Change: C274S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698
AA Change: C274S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
154 |
313 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141833
AA Change: C274S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148108
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
| C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
| Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
| Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
| Dnajb6 |
A |
T |
5: 29,957,398 (GRCm39) |
K60I |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
| Eme1 |
T |
C |
11: 94,541,558 (GRCm39) |
E88G |
probably damaging |
Het |
| Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
| Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
| Gmnc |
A |
G |
16: 26,779,173 (GRCm39) |
L278P |
probably benign |
Het |
| Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,297 (GRCm39) |
T47M |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
| Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
| Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
| Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
| Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
| Prmt8 |
T |
C |
6: 127,674,776 (GRCm39) |
K284R |
probably benign |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,553 (GRCm39) |
Y138N |
probably damaging |
Het |
| Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
| Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
| Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
| Wdfy2 |
A |
T |
14: 63,167,675 (GRCm39) |
|
probably null |
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 |
|
R1602:Elmod3
|
UTSW |
6 |
72,546,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3147:Elmod3
|
UTSW |
6 |
72,563,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GTCGGGGAGGACAGTAGTTCTACC -3'
(R):5'- GGGCAACATCTCCATACGCCAG -3'
Sequencing Primer
(F):5'- CCAACCTTTGAGGACAAAGC -3'
(R):5'- AGTGCCAGGTTGCCAAATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation