Incidental Mutation 'R5989:Drgx'
| ID |
481896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drgx
|
| Ensembl Gene |
ENSMUSG00000041730 |
| Gene Name |
dorsal root ganglia homeobox |
| Synonyms |
Prrxl1, Drg11 |
| MMRRC Submission |
044169-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
R5989 (G1)
|
| Quality Score |
152.008 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32321364-32371203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32330145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 116
(N116S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068938]
[ENSMUST00000186452]
[ENSMUST00000187377]
[ENSMUST00000189022]
[ENSMUST00000228878]
|
| AlphaFold |
Q8BYH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068938
AA Change: N116S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730
AA Change: N116S
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
33 |
95 |
9.62e-29 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186452
AA Change: N116S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139756
Gene: ENSMUSG00000041730
AA Change: N116S
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
33 |
95 |
9.62e-29 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
199 |
219 |
4.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187377
AA Change: N116S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730
AA Change: N116S
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
33 |
95 |
9.62e-29 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189022
AA Change: N116S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140337
Gene: ENSMUSG00000041730
AA Change: N116S
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
33 |
95 |
9.62e-29 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
199 |
219 |
4.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228878
AA Change: N116S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice had delayed projection of sensory afferent neurons in the dorsal, but not the ventral, spinal cord during embryonic development. This delayed development resulted in abnormal responses to noxious stimuli in adults, but normal locomotion and sensory motor function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
| Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
| Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
| Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
| Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
probably damaging |
Het |
|
| Other mutations in Drgx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Drgx
|
APN |
14 |
32,327,171 (GRCm39) |
splice site |
probably benign |
|
|
IGL01868:Drgx
|
APN |
14 |
32,330,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0436:Drgx
|
UTSW |
14 |
32,330,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Drgx
|
UTSW |
14 |
32,330,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1574:Drgx
|
UTSW |
14 |
32,327,281 (GRCm39) |
splice site |
probably benign |
|
|
R2093:Drgx
|
UTSW |
14 |
32,369,112 (GRCm39) |
intron |
probably benign |
|
|
R3700:Drgx
|
UTSW |
14 |
32,350,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Drgx
|
UTSW |
14 |
32,330,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Drgx
|
UTSW |
14 |
32,330,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Drgx
|
UTSW |
14 |
32,369,101 (GRCm39) |
intron |
probably benign |
|
|
R5512:Drgx
|
UTSW |
14 |
32,322,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7423:Drgx
|
UTSW |
14 |
32,350,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Drgx
|
UTSW |
14 |
32,350,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Drgx
|
UTSW |
14 |
32,330,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATCTGTGGTCTGAAGTTC -3'
(R):5'- GCATACGTGGCTGTGTTCAG -3'
Sequencing Primer
(F):5'- TGTCGTCATGGGCCTCCTG -3'
(R):5'- CTGTGTTCAGGAGGGTCCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation