Incidental Mutation 'IGL02158:Dqx1'
| ID |
282343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 83035891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000089645]
[ENSMUST00000092618]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077502
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
| 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: ENSMUST00000113962
|
| SMART Domains |
Protein: ENSMUSP00000109595
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_2
|
182 |
237 |
2.7e-12 |
PFAM |
|
Pfam:Trypsin
|
212 |
277 |
4.5e-6 |
PFAM |
|
PDZ
|
285 |
348 |
4.89e-1 |
SMART |
|
| 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 |
probably benign
Transcript: ENSMUST00000150217
|
| SMART Domains |
Protein: ENSMUSP00000118234
Gene: ENSMUSG00000068329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
41 |
215 |
1.6e-11 |
PFAM |
|
Pfam:Trypsin_2
|
53 |
190 |
1.8e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,902 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,337,891 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,130,269 (GRCm39) |
S262R |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,657,034 (GRCm39) |
L753* |
probably null |
Het |
| Ahctf1 |
A |
T |
1: 179,607,217 (GRCm39) |
I699N |
possibly damaging |
Het |
| Arl11 |
C |
A |
14: 61,548,487 (GRCm39) |
A99E |
probably damaging |
Het |
| Atp5po |
G |
A |
16: 91,727,289 (GRCm39) |
R16W |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,510,621 (GRCm39) |
H238R |
probably null |
Het |
| Bpifb9a |
C |
A |
2: 154,108,733 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
A |
G |
16: 8,481,577 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,702 (GRCm39) |
D623G |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,868,212 (GRCm39) |
R378L |
possibly damaging |
Het |
| Chn2 |
T |
C |
6: 54,277,230 (GRCm39) |
|
probably benign |
Het |
| Clgn |
T |
G |
8: 84,149,765 (GRCm39) |
I422S |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,300,606 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,556,574 (GRCm39) |
I470T |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,801,980 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
G |
T |
14: 31,022,924 (GRCm39) |
T1071K |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,348,949 (GRCm39) |
M2513L |
probably benign |
Het |
| Gm1587 |
T |
C |
14: 78,036,282 (GRCm39) |
E8G |
unknown |
Het |
| Hydin |
T |
C |
8: 111,336,598 (GRCm39) |
I5125T |
possibly damaging |
Het |
| Ighv5-9 |
G |
T |
12: 113,625,563 (GRCm39) |
P60Q |
probably damaging |
Het |
| Itga7 |
T |
G |
10: 128,789,651 (GRCm39) |
L993R |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,317,416 (GRCm39) |
N857S |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,490 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,390,140 (GRCm39) |
N3093S |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,505,349 (GRCm39) |
F203S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,947,088 (GRCm39) |
D122G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,954,088 (GRCm39) |
L220I |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,700 (GRCm39) |
Y240* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,238,016 (GRCm39) |
I165T |
probably damaging |
Het |
| Mylk2 |
C |
A |
2: 152,761,077 (GRCm39) |
N428K |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,188 (GRCm39) |
Y239H |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,350,351 (GRCm39) |
L2263P |
probably damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,158 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,425 (GRCm39) |
M148V |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,830,055 (GRCm39) |
Y387N |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,509,121 (GRCm39) |
Y324* |
probably null |
Het |
| Plcb2 |
C |
A |
2: 118,541,844 (GRCm39) |
R922L |
probably benign |
Het |
| Pml |
T |
C |
9: 58,154,286 (GRCm39) |
T196A |
probably benign |
Het |
| Ppp2r1b |
C |
A |
9: 50,772,909 (GRCm39) |
Q65K |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,442,270 (GRCm39) |
T507A |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,306,644 (GRCm39) |
|
probably null |
Het |
| Slc46a3 |
G |
T |
5: 147,823,044 (GRCm39) |
T266N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,812,169 (GRCm39) |
S41P |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,079,403 (GRCm39) |
N1837K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,920,336 (GRCm39) |
T2318A |
probably damaging |
Het |
| St7l |
C |
T |
3: 104,782,148 (GRCm39) |
T175I |
possibly damaging |
Het |
| Tmc7 |
G |
A |
7: 118,137,434 (GRCm39) |
R703C |
probably damaging |
Het |
| Urah |
A |
G |
7: 140,416,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,296 (GRCm39) |
I91N |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,780,525 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation