Incidental Mutation 'R8147:Dqx1'
| ID |
632851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| MMRRC Submission |
067575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83037222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 295
(V295A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000092618]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077502
AA Change: V295A
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: V295A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
30 |
236 |
5.01e-4 |
SMART |
|
low complexity region
|
268 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
HA2
|
441 |
530 |
4e-19 |
SMART |
|
Pfam:OB_NTP_bind
|
555 |
674 |
2.2e-11 |
PFAM |
|
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092618
|
| SMART Domains |
Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
PlsC
|
119 |
222 |
1.04e-1 |
SMART |
|
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
|
CUE
|
325 |
366 |
1.3e-9 |
SMART |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204803
|
| SMART Domains |
Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
30 |
236 |
2.1e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.1319 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.3%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,562,876 (GRCm39) |
E487G |
probably damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,184,949 (GRCm39) |
I287N |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,339,821 (GRCm39) |
N371K |
probably benign |
Het |
| Atr |
T |
A |
9: 95,781,113 (GRCm39) |
F1392L |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,722,395 (GRCm39) |
P374L |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,569,188 (GRCm39) |
R912Q |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,801,609 (GRCm39) |
N778S |
probably benign |
Het |
| Cert1 |
C |
T |
13: 96,679,736 (GRCm39) |
P22L |
probably benign |
Het |
| Dgat2 |
C |
T |
7: 98,806,187 (GRCm39) |
V337I |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,395 (GRCm39) |
D937G |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,673,130 (GRCm39) |
T934A |
probably benign |
Het |
| Fam81b |
A |
C |
13: 76,383,140 (GRCm39) |
V243G |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,305,051 (GRCm39) |
|
probably null |
Het |
| Glrx3 |
G |
A |
7: 137,064,736 (GRCm39) |
S275N |
probably benign |
Het |
| Igdcc4 |
A |
T |
9: 65,031,253 (GRCm39) |
Q397L |
probably benign |
Het |
| Ints6 |
C |
T |
14: 62,951,186 (GRCm39) |
G281D |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,875,414 (GRCm39) |
S1722T |
probably benign |
Het |
| Lrrc4b |
A |
G |
7: 44,111,829 (GRCm39) |
D567G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,385,491 (GRCm39) |
L1200S |
probably damaging |
Het |
| Mad1l1 |
G |
A |
5: 140,129,734 (GRCm39) |
R434C |
probably damaging |
Het |
| Mia3 |
A |
T |
1: 183,109,062 (GRCm39) |
F358I |
|
Het |
| Ncapd3 |
C |
T |
9: 26,942,014 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,295,873 (GRCm39) |
R156G |
possibly damaging |
Het |
| Nus1 |
T |
C |
10: 52,305,416 (GRCm39) |
|
probably null |
Het |
| Or2y14 |
C |
T |
11: 49,405,050 (GRCm39) |
T195I |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,186 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4c31 |
T |
C |
2: 88,292,427 (GRCm39) |
F267L |
possibly damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
| Pafah1b2 |
A |
G |
9: 45,895,147 (GRCm39) |
|
probably null |
Het |
| Pold2 |
T |
C |
11: 5,826,842 (GRCm39) |
T31A |
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,801,680 (GRCm39) |
N512S |
possibly damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,695,564 (GRCm39) |
L23Q |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,153,283 (GRCm39) |
V293A |
probably damaging |
Het |
| Rpl18a |
G |
T |
8: 71,348,069 (GRCm39) |
T174N |
probably damaging |
Het |
| Senp5 |
A |
T |
16: 31,808,128 (GRCm39) |
H375Q |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,015 (GRCm39) |
F1217L |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,993,218 (GRCm39) |
I314V |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,288,682 (GRCm39) |
D596G |
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,607 (GRCm39) |
I285T |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,467 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,770,718 (GRCm39) |
F270L |
probably damaging |
Het |
| Taar5 |
T |
C |
10: 23,846,749 (GRCm39) |
V49A |
probably damaging |
Het |
| Tbx18 |
C |
T |
9: 87,606,411 (GRCm39) |
V245I |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,714,586 (GRCm39) |
M403T |
probably benign |
Het |
| Tmprss11f |
A |
T |
5: 86,677,769 (GRCm39) |
F333L |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,589,213 (GRCm39) |
I46V |
probably benign |
Het |
| Traf5 |
G |
T |
1: 191,746,984 (GRCm39) |
N112K |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,991,165 (GRCm39) |
M263K |
unknown |
Het |
| Trim55 |
A |
G |
3: 19,727,011 (GRCm39) |
I359M |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,594,306 (GRCm39) |
W2140R |
probably benign |
Het |
| Vgll3 |
T |
C |
16: 65,624,964 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn2r74 |
C |
A |
7: 85,605,227 (GRCm39) |
G474* |
probably null |
Het |
| Vps18 |
G |
A |
2: 119,123,237 (GRCm39) |
A98T |
probably benign |
Het |
| Zfand4 |
T |
A |
6: 116,291,169 (GRCm39) |
S387T |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,934 (GRCm39) |
Y721C |
probably damaging |
Het |
|
| Other mutations in Dqx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Dqx1
|
APN |
6 |
83,043,408 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02158:Dqx1
|
APN |
6 |
83,035,891 (GRCm39) |
splice site |
probably benign |
|
|
IGL02288:Dqx1
|
APN |
6 |
83,037,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02801:Dqx1
|
APN |
6 |
83,037,476 (GRCm39) |
splice site |
probably null |
|
|
IGL02929:Dqx1
|
APN |
6 |
83,037,465 (GRCm39) |
unclassified |
probably benign |
|
|
R0396:Dqx1
|
UTSW |
6 |
83,035,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0448:Dqx1
|
UTSW |
6 |
83,037,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Dqx1
|
UTSW |
6 |
83,036,407 (GRCm39) |
splice site |
probably benign |
|
|
R1022:Dqx1
|
UTSW |
6 |
83,038,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Dqx1
|
UTSW |
6 |
83,038,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Dqx1
|
UTSW |
6 |
83,038,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Dqx1
|
UTSW |
6 |
83,036,433 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1804:Dqx1
|
UTSW |
6 |
83,037,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Dqx1
|
UTSW |
6 |
83,043,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Dqx1
|
UTSW |
6 |
83,035,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Dqx1
|
UTSW |
6 |
83,035,524 (GRCm39) |
unclassified |
probably benign |
|
|
R2350:Dqx1
|
UTSW |
6 |
83,036,068 (GRCm39) |
nonsense |
probably null |
|
|
R3110:Dqx1
|
UTSW |
6 |
83,035,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3112:Dqx1
|
UTSW |
6 |
83,035,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3119:Dqx1
|
UTSW |
6 |
83,043,216 (GRCm39) |
nonsense |
probably null |
|
|
R4179:Dqx1
|
UTSW |
6 |
83,036,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4180:Dqx1
|
UTSW |
6 |
83,036,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4873:Dqx1
|
UTSW |
6 |
83,037,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4875:Dqx1
|
UTSW |
6 |
83,037,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4882:Dqx1
|
UTSW |
6 |
83,043,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5015:Dqx1
|
UTSW |
6 |
83,043,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5128:Dqx1
|
UTSW |
6 |
83,037,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5346:Dqx1
|
UTSW |
6 |
83,036,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5480:Dqx1
|
UTSW |
6 |
83,041,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6939:Dqx1
|
UTSW |
6 |
83,036,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6979:Dqx1
|
UTSW |
6 |
83,037,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Dqx1
|
UTSW |
6 |
83,041,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7084:Dqx1
|
UTSW |
6 |
83,043,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Dqx1
|
UTSW |
6 |
83,037,957 (GRCm39) |
nonsense |
probably null |
|
|
R7389:Dqx1
|
UTSW |
6 |
83,041,775 (GRCm39) |
missense |
probably null |
0.99 |
|
R7497:Dqx1
|
UTSW |
6 |
83,036,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Dqx1
|
UTSW |
6 |
83,036,680 (GRCm39) |
missense |
probably benign |
|
|
R7762:Dqx1
|
UTSW |
6 |
83,038,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Dqx1
|
UTSW |
6 |
83,035,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Dqx1
|
UTSW |
6 |
83,036,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Dqx1
|
UTSW |
6 |
83,035,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8776-TAIL:Dqx1
|
UTSW |
6 |
83,035,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9090:Dqx1
|
UTSW |
6 |
83,036,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9139:Dqx1
|
UTSW |
6 |
83,036,759 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9271:Dqx1
|
UTSW |
6 |
83,036,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAGAGCTTTGTGCACAGC -3'
(R):5'- TCTCACTCACACTACGAAGTTC -3'
Sequencing Primer
(F):5'- GTGCCCAACTTTAGAAGTATGCCTG -3'
(R):5'- CGAAGTTCCAGTCCTGAGTCAATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation