Incidental Mutation 'R5128:Dqx1'
| ID |
394858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| MMRRC Submission |
042716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5128 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83037548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 374
(L374P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000092618]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077502
AA Change: L374P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: L374P
| 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 |
noncoding transcript
Transcript: ENSMUST00000203123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
| 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: ENSMUST00000204209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
| Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
| Chrna9 |
A |
G |
5: 66,128,565 (GRCm39) |
S258G |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
| Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
| Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,567,468 (GRCm39) |
|
probably benign |
Het |
| Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
| Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
| Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,248 (GRCm39) |
V188E |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,439,647 (GRCm39) |
D266E |
probably damaging |
Het |
| Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
| Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,609,702 (GRCm39) |
S412P |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
| Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
| Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
| Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,653,009 (GRCm39) |
I550F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp597 |
G |
A |
16: 3,689,988 (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 |
|
|
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 |
|
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'- TGACTCAGGACTGGAACTTCG -3'
(R):5'- CTCTTCACACACTTTGGGGTG -3'
Sequencing Primer
(F):5'- ACTCAGGACTGGAACTTCGTAGTG -3'
(R):5'- CAGTGGGGGAGCCTCTAGTTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation