Incidental Mutation 'IGL02111:Dap3'
| ID |
280143 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dap3
|
| Ensembl Gene |
ENSMUSG00000068921 |
| Gene Name |
death associated protein 3 |
| Synonyms |
DAP-3, 4921514D13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88828110-88858488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88836725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 92
(T92I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090938]
[ENSMUST00000107491]
[ENSMUST00000172942]
[ENSMUST00000173021]
[ENSMUST00000173135]
[ENSMUST00000174077]
[ENSMUST00000174491]
[ENSMUST00000174402]
|
| AlphaFold |
Q9ER88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090938
AA Change: T192I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921
AA Change: T192I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
97 |
392 |
2.1e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107491
AA Change: T192I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921
AA Change: T192I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
97 |
306 |
1e-67 |
PFAM |
|
Pfam:DAP3
|
300 |
362 |
6.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172942
|
| SMART Domains |
Protein: ENSMUSP00000134145
Gene: ENSMUSG00000068921
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
63 |
133 |
4.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173021
AA Change: T187I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133314
Gene: ENSMUSG00000068921
AA Change: T187I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
92 |
200 |
2.4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173094
AA Change: T103I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921
AA Change: T103I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
9 |
140 |
6.5e-48 |
PFAM |
|
Pfam:DAP3
|
134 |
251 |
4.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173135
AA Change: T187I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921
AA Change: T187I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
92 |
387 |
8e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174077
AA Change: T187I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000134433
Gene: ENSMUSG00000068921
AA Change: T187I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
92 |
212 |
7.1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174571
AA Change: T92I
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921
AA Change: T92I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
1 |
102 |
4.7e-36 |
PFAM |
|
Pfam:DAP3
|
99 |
213 |
7e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174402
|
| SMART Domains |
Protein: ENSMUSP00000133395
Gene: ENSMUSG00000068921
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP3
|
79 |
165 |
1.7e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality with defects in mitochondria morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
G |
A |
8: 95,761,627 (GRCm39) |
R130Q |
probably damaging |
Het |
| Adipor2 |
A |
T |
6: 119,347,157 (GRCm39) |
L42* |
probably null |
Het |
| Ankrd45 |
A |
G |
1: 160,990,921 (GRCm39) |
K259E |
probably damaging |
Het |
| Apoc3 |
T |
C |
9: 46,145,772 (GRCm39) |
K79R |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,764 (GRCm39) |
Y416H |
probably damaging |
Het |
| Armc5 |
A |
G |
7: 127,843,255 (GRCm39) |
T683A |
probably benign |
Het |
| Bora |
T |
C |
14: 99,284,813 (GRCm39) |
V21A |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,497,003 (GRCm39) |
S2189N |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,889,017 (GRCm39) |
T57I |
probably damaging |
Het |
| Cd200r1 |
A |
T |
16: 44,609,144 (GRCm39) |
N34Y |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,219 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
G |
A |
1: 116,017,082 (GRCm39) |
R225H |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,103 (GRCm39) |
D447V |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,852,392 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Egfem1 |
G |
A |
3: 29,705,045 (GRCm39) |
|
probably null |
Het |
| Fam120b |
T |
C |
17: 15,622,847 (GRCm39) |
L275P |
possibly damaging |
Het |
| Fam161a |
A |
T |
11: 22,970,026 (GRCm39) |
H68L |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,568,001 (GRCm39) |
E100G |
possibly damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
| Gm10136 |
T |
C |
19: 28,981,122 (GRCm39) |
K41E |
probably benign |
Het |
| Gm10797 |
C |
T |
10: 67,408,397 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf1 |
A |
G |
15: 76,380,281 (GRCm39) |
|
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,387,344 (GRCm39) |
H422R |
probably benign |
Het |
| Lrp4 |
G |
T |
2: 91,336,404 (GRCm39) |
L1738F |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,335,475 (GRCm39) |
I31T |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,128,843 (GRCm39) |
E371G |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,503 (GRCm39) |
L454Q |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,680,938 (GRCm39) |
E956V |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,324,944 (GRCm39) |
M1K |
probably null |
Het |
| Or2d3c |
A |
C |
7: 106,525,823 (GRCm39) |
V281G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,706,152 (GRCm39) |
D233G |
probably benign |
Het |
| Or5d36 |
T |
A |
2: 87,901,571 (GRCm39) |
N52Y |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,435,045 (GRCm39) |
C89S |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,623,181 (GRCm39) |
R775L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,882,458 (GRCm39) |
T512A |
probably benign |
Het |
| Prpf4b |
T |
A |
13: 35,067,944 (GRCm39) |
S258T |
probably benign |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,630 (GRCm39) |
Y196H |
probably damaging |
Het |
| Rnf187 |
T |
C |
11: 58,828,006 (GRCm39) |
D148G |
probably damaging |
Het |
| Sbds |
A |
G |
5: 130,279,782 (GRCm39) |
I74T |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,686,884 (GRCm39) |
V468A |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,139,758 (GRCm39) |
M23K |
probably damaging |
Het |
| Slc6a9 |
A |
T |
4: 117,721,210 (GRCm39) |
Y208F |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,895,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,218,683 (GRCm39) |
M600L |
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,673,022 (GRCm39) |
|
probably null |
Het |
| Tecrl |
T |
A |
5: 83,502,639 (GRCm39) |
Q70L |
probably damaging |
Het |
| Tedc2 |
A |
T |
17: 24,437,140 (GRCm39) |
|
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,191,353 (GRCm39) |
D99G |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,269 (GRCm39) |
Q204K |
probably damaging |
Het |
| Tmem181c-ps |
A |
T |
17: 6,887,766 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem184a |
G |
T |
5: 139,798,856 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,867,660 (GRCm39) |
I137F |
possibly damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,403 (GRCm39) |
T255I |
probably damaging |
Het |
| Top1mt |
G |
A |
15: 75,537,555 (GRCm39) |
|
probably benign |
Het |
| Treh |
C |
T |
9: 44,594,258 (GRCm39) |
T168I |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,672 (GRCm39) |
I11420N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,641 (GRCm39) |
K705E |
possibly damaging |
Het |
| Zw10 |
T |
C |
9: 48,980,054 (GRCm39) |
I395T |
probably damaging |
Het |
|
| Other mutations in Dap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02002:Dap3
|
APN |
3 |
88,843,535 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02453:Dap3
|
APN |
3 |
88,835,634 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02989:Dap3
|
APN |
3 |
88,837,878 (GRCm39) |
splice site |
probably benign |
|
|
R0094:Dap3
|
UTSW |
3 |
88,834,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0665:Dap3
|
UTSW |
3 |
88,838,304 (GRCm39) |
nonsense |
probably null |
|
|
R1853:Dap3
|
UTSW |
3 |
88,838,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Dap3
|
UTSW |
3 |
88,838,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Dap3
|
UTSW |
3 |
88,838,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Dap3
|
UTSW |
3 |
88,840,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2513:Dap3
|
UTSW |
3 |
88,835,565 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4449:Dap3
|
UTSW |
3 |
88,857,185 (GRCm39) |
unclassified |
probably benign |
|
|
R4749:Dap3
|
UTSW |
3 |
88,833,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5359:Dap3
|
UTSW |
3 |
88,838,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Dap3
|
UTSW |
3 |
88,832,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Dap3
|
UTSW |
3 |
88,840,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6919:Dap3
|
UTSW |
3 |
88,838,296 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6946:Dap3
|
UTSW |
3 |
88,845,523 (GRCm39) |
start gained |
probably benign |
|
|
R7990:Dap3
|
UTSW |
3 |
88,835,814 (GRCm39) |
nonsense |
probably null |
|
|
R8188:Dap3
|
UTSW |
3 |
88,843,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8768:Dap3
|
UTSW |
3 |
88,834,334 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8808:Dap3
|
UTSW |
3 |
88,835,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8954:Dap3
|
UTSW |
3 |
88,835,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Dap3
|
UTSW |
3 |
88,840,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9123:Dap3
|
UTSW |
3 |
88,837,861 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9125:Dap3
|
UTSW |
3 |
88,837,861 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9158:Dap3
|
UTSW |
3 |
88,832,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Dap3
|
UTSW |
3 |
88,840,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation