Incidental Mutation 'R1480:Dqx1'
| ID |
164285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| MMRRC Submission |
039533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1480 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83036433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 146
(R146G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000089645]
[ENSMUST00000092618]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077502
AA Change: R146G
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: R146G
| 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: ENSMUST00000089645
|
| SMART Domains |
Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
170 |
341 |
1.1e-14 |
PFAM |
|
Pfam:Trypsin_2
|
182 |
320 |
1.2e-34 |
PFAM |
|
PDZ
|
371 |
445 |
2.86e-10 |
SMART |
|
| 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: ENSMUST00000113963
|
| SMART Domains |
Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
170 |
342 |
6.8e-15 |
PFAM |
|
Pfam:Trypsin_2
|
182 |
320 |
7.1e-24 |
PFAM |
|
PDZ
|
350 |
413 |
4.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122955
|
| SMART Domains |
Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
170 |
321 |
2.1e-10 |
PFAM |
|
Pfam:Trypsin_2
|
182 |
317 |
9.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203123
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204803
AA Change: R146G
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
AA Change: R146G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
30 |
236 |
2.1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,409 (GRCm39) |
R126C |
possibly damaging |
Het |
| Abcb9 |
C |
A |
5: 124,216,889 (GRCm39) |
A443S |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,262,171 (GRCm39) |
M1074V |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,454 (GRCm39) |
Y614H |
probably damaging |
Het |
| Agbl4 |
G |
A |
4: 111,423,914 (GRCm39) |
M313I |
possibly damaging |
Het |
| AI987944 |
T |
C |
7: 41,024,343 (GRCm39) |
D212G |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,448 (GRCm39) |
S537P |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,826,472 (GRCm39) |
R1031* |
probably null |
Het |
| Arid1a |
A |
G |
4: 133,407,700 (GRCm39) |
M2269T |
unknown |
Het |
| Ash1l |
C |
A |
3: 88,892,359 (GRCm39) |
P1413T |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,617 (GRCm39) |
I279L |
probably damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,341 (GRCm39) |
|
probably null |
Het |
| Ccdc158 |
T |
C |
5: 92,796,903 (GRCm39) |
K478E |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,000,782 (GRCm39) |
I121V |
probably benign |
Het |
| Chad |
A |
T |
11: 94,455,963 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
T |
C |
10: 76,545,752 (GRCm39) |
I907V |
unknown |
Het |
| Cpe |
T |
A |
8: 65,047,969 (GRCm39) |
T432S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,595,325 (GRCm39) |
T1941A |
possibly damaging |
Het |
| Dennd3 |
G |
A |
15: 73,404,695 (GRCm39) |
V257I |
probably benign |
Het |
| Dnajc21 |
T |
C |
15: 10,460,037 (GRCm39) |
|
probably null |
Het |
| Etf1 |
T |
C |
18: 35,042,276 (GRCm39) |
E261G |
probably damaging |
Het |
| Fermt2 |
C |
T |
14: 45,699,244 (GRCm39) |
V617I |
possibly damaging |
Het |
| Gabarap |
T |
C |
11: 69,882,551 (GRCm39) |
Y5H |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,215,781 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gimap5 |
A |
G |
6: 48,729,964 (GRCm39) |
E178G |
probably damaging |
Het |
| Gpatch1 |
C |
T |
7: 35,002,763 (GRCm39) |
G249E |
probably damaging |
Het |
| Gse1 |
T |
G |
8: 121,299,133 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,836,515 (GRCm39) |
D82G |
probably damaging |
Het |
| Kit |
G |
A |
5: 75,797,977 (GRCm39) |
D422N |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 65,003,995 (GRCm39) |
F173I |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,766,278 (GRCm39) |
D253G |
possibly damaging |
Het |
| Lias |
T |
A |
5: 65,549,634 (GRCm39) |
H39Q |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,793,401 (GRCm39) |
D2504V |
probably damaging |
Het |
| Mgat5 |
A |
T |
1: 127,387,716 (GRCm39) |
R557S |
probably damaging |
Het |
| Mrpl54 |
T |
C |
10: 81,101,489 (GRCm39) |
T91A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,984,371 (GRCm39) |
D1069E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
C |
4: 120,625,921 (GRCm39) |
|
probably null |
Het |
| Nol7 |
A |
T |
13: 43,552,104 (GRCm39) |
E75V |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,710,337 (GRCm39) |
V606E |
probably damaging |
Het |
| Npat |
TGGTAAAA |
T |
9: 53,474,366 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,297,827 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
G |
17: 37,590,636 (GRCm39) |
V225A |
probably benign |
Het |
| Parg |
A |
T |
14: 31,931,585 (GRCm39) |
K402* |
probably null |
Het |
| Patj |
G |
A |
4: 98,357,819 (GRCm39) |
G695E |
probably damaging |
Het |
| Pde3a |
G |
A |
6: 141,433,300 (GRCm39) |
S777N |
probably benign |
Het |
| Phactr2 |
G |
A |
10: 13,129,536 (GRCm39) |
P174L |
possibly damaging |
Het |
| Phtf1 |
C |
T |
3: 103,894,750 (GRCm39) |
R113* |
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,564,443 (GRCm39) |
V1346L |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,193,865 (GRCm39) |
W525R |
probably damaging |
Het |
| Prl8a1 |
C |
T |
13: 27,758,055 (GRCm39) |
R218H |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,376,310 (GRCm39) |
E536G |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,500,042 (GRCm39) |
N535S |
probably benign |
Het |
| Rbm7 |
G |
T |
9: 48,401,016 (GRCm39) |
D237E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,342,180 (GRCm39) |
V122A |
probably damaging |
Het |
| Sdhc |
C |
T |
1: 170,973,370 (GRCm39) |
R11H |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,887,029 (GRCm39) |
N360S |
possibly damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,437 (GRCm39) |
M281K |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,822,889 (GRCm39) |
E210G |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,202 (GRCm39) |
S31P |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,856,836 (GRCm39) |
N28I |
possibly damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Tacc3 |
G |
A |
5: 33,821,941 (GRCm39) |
V234I |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,469,511 (GRCm39) |
M132L |
possibly damaging |
Het |
| Tas2r104 |
C |
A |
6: 131,662,257 (GRCm39) |
V151F |
probably benign |
Het |
| Tbc1d10b |
C |
T |
7: 126,802,950 (GRCm39) |
S326N |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,997,451 (GRCm39) |
C35Y |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,755,123 (GRCm39) |
I2067T |
probably benign |
Het |
| Upk1a |
T |
C |
7: 30,306,311 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r39 |
T |
G |
7: 9,017,955 (GRCm39) |
T794P |
probably damaging |
Het |
| Wnk2 |
G |
A |
13: 49,210,708 (GRCm39) |
P1704S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,593 (GRCm39) |
E790G |
possibly damaging |
Het |
| Zmym1 |
G |
T |
4: 126,942,405 (GRCm39) |
T563K |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,745 (GRCm39) |
F132Y |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 128,019,599 (GRCm39) |
A48T |
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 |
|
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 |
|
R8147:Dqx1
|
UTSW |
6 |
83,037,222 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- CTGTGGAGTGGAGACAAACCCAAC -3'
(R):5'- TGGGAGAATTGCCCCAGAAAGC -3'
Sequencing Primer
(F):5'- GCTCAACCTGCAATGGAGTC -3'
(R):5'- GGTCGGTAACTACAACCACT -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation