Incidental Mutation 'IGL02701:Dalrd3'
| ID |
304139 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dalrd3
|
| Ensembl Gene |
ENSMUSG00000019039 |
| Gene Name |
DALR anticodon binding domain containing 3 |
| Synonyms |
6330580J24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108447085-108449973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108449483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 143
(V143D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000074208]
[ENSMUST00000193427]
[ENSMUST00000195249]
|
| AlphaFold |
Q6PJN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019183
AA Change: V472D
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: V472D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
DALR_1
|
399 |
538 |
2.09e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068700
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
109 |
142 |
3e-6 |
BLAST |
|
WD40
|
198 |
237 |
1.42e-4 |
SMART |
|
WD40
|
247 |
284 |
7.28e-2 |
SMART |
|
WD40
|
286 |
326 |
1.72e-3 |
SMART |
|
Blast:WD40
|
336 |
375 |
3e-13 |
BLAST |
|
WD40
|
479 |
519 |
2.96e1 |
SMART |
|
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
|
WD40
|
559 |
598 |
1.77e2 |
SMART |
|
Blast:WD40
|
600 |
641 |
7e-20 |
BLAST |
|
Blast:WD40
|
764 |
815 |
2e-22 |
BLAST |
|
Blast:WD40
|
855 |
896 |
2e-11 |
BLAST |
|
WD40
|
900 |
949 |
1.48e1 |
SMART |
|
WD40
|
973 |
1015 |
5.52e-2 |
SMART |
|
WD40
|
1035 |
1076 |
3.98e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074208
|
| SMART Domains |
Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF498
|
61 |
169 |
9.3e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191897
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193427
AA Change: V143D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039
AA Change: V143D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
DALR_1
|
68 |
171 |
1.3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
G |
2: 20,896,902 (GRCm39) |
C125R |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,736 (GRCm39) |
D383G |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,061 (GRCm39) |
E691G |
probably damaging |
Het |
| Chrm3 |
G |
A |
13: 9,928,500 (GRCm39) |
R179* |
probably null |
Het |
| Cnrip1 |
A |
G |
11: 17,028,415 (GRCm39) |
T116A |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,389,934 (GRCm39) |
V2223A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,432,375 (GRCm39) |
I886L |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,635 (GRCm39) |
F1325L |
possibly damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,890,856 (GRCm39) |
T253S |
probably benign |
Het |
| Fads2b |
A |
G |
2: 85,314,513 (GRCm39) |
L480P |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,436,170 (GRCm39) |
S51L |
probably benign |
Het |
| Gde1 |
T |
A |
7: 118,297,860 (GRCm39) |
T9S |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,455 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,284,485 (GRCm39) |
A3481V |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
| Ighv12-3 |
A |
C |
12: 114,330,421 (GRCm39) |
S25A |
probably damaging |
Het |
| Itga5 |
A |
C |
15: 103,256,193 (GRCm39) |
C920G |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,846,681 (GRCm39) |
D118G |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 41,136,029 (GRCm39) |
N1647T |
possibly damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,649,079 (GRCm39) |
E363G |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,833,770 (GRCm39) |
Y41C |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,747,357 (GRCm39) |
V178A |
probably damaging |
Het |
| Or13c7d |
A |
G |
4: 43,770,366 (GRCm39) |
I215T |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,802 (GRCm39) |
I289V |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,649 (GRCm39) |
T242S |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,541 (GRCm39) |
V1464A |
unknown |
Het |
| Plekhg5 |
T |
C |
4: 152,187,479 (GRCm39) |
S82P |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,494 (GRCm39) |
T41A |
probably benign |
Het |
| Ppip5k1 |
A |
C |
2: 121,147,130 (GRCm39) |
|
probably null |
Het |
| Pttg1ip2 |
A |
G |
5: 5,516,623 (GRCm39) |
|
probably null |
Het |
| Rpl14 |
T |
C |
9: 120,402,639 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,247 (GRCm39) |
F554L |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,271 (GRCm39) |
V635E |
probably benign |
Het |
| Sv2a |
T |
A |
3: 96,094,447 (GRCm39) |
C261S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,903,623 (GRCm39) |
I353V |
probably benign |
Het |
| Tspan4 |
G |
A |
7: 141,071,941 (GRCm39) |
V205M |
probably damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,047 (GRCm39) |
R93* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,433,108 (GRCm39) |
V258D |
probably damaging |
Het |
| Zmynd12 |
G |
T |
4: 119,301,952 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dalrd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02441:Dalrd3
|
APN |
9 |
108,448,725 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02699:Dalrd3
|
APN |
9 |
108,448,088 (GRCm39) |
splice site |
probably benign |
|
|
R0051:Dalrd3
|
UTSW |
9 |
108,449,414 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0051:Dalrd3
|
UTSW |
9 |
108,449,414 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2025:Dalrd3
|
UTSW |
9 |
108,448,284 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4425:Dalrd3
|
UTSW |
9 |
108,448,800 (GRCm39) |
unclassified |
probably benign |
|
|
R4552:Dalrd3
|
UTSW |
9 |
108,449,429 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4660:Dalrd3
|
UTSW |
9 |
108,447,568 (GRCm39) |
missense |
probably benign |
|
|
R4876:Dalrd3
|
UTSW |
9 |
108,448,635 (GRCm39) |
splice site |
probably benign |
|
|
R5642:Dalrd3
|
UTSW |
9 |
108,449,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Dalrd3
|
UTSW |
9 |
108,447,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6342:Dalrd3
|
UTSW |
9 |
108,448,322 (GRCm39) |
nonsense |
probably null |
|
|
R9004:Dalrd3
|
UTSW |
9 |
108,449,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9381:Dalrd3
|
UTSW |
9 |
108,448,242 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation