Incidental Mutation 'R3110:Dqx1'
| ID |
477899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| MMRRC Submission |
040584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R3110 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83035953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 95
(V95A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000089645]
[ENSMUST00000092618]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077502
AA Change: V95A
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: V95A
| 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: ENSMUST00000154829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203123
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204803
AA Change: V95A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
AA Change: V95A
| 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: ENSMUST00000205152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
| Meta Mutation Damage Score |
0.1300 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Acads |
T |
C |
5: 115,255,757 (GRCm39) |
H26R |
probably benign |
Het |
| Acer1 |
G |
A |
17: 57,265,406 (GRCm39) |
T141I |
probably damaging |
Het |
| Adam15 |
C |
G |
3: 89,254,764 (GRCm39) |
V99L |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,368,331 (GRCm39) |
V97A |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,491,720 (GRCm39) |
T94A |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,694,119 (GRCm39) |
N345S |
probably damaging |
Het |
| Btn1a1 |
T |
A |
13: 23,645,721 (GRCm39) |
N216I |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,002,831 (GRCm39) |
W62* |
probably null |
Het |
| Ccdc141 |
C |
T |
2: 76,869,830 (GRCm39) |
V892I |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Cdc7 |
T |
G |
5: 107,122,564 (GRCm39) |
|
probably null |
Het |
| Cpb1 |
C |
T |
3: 20,319,521 (GRCm39) |
V188M |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,095,371 (GRCm39) |
I101T |
possibly damaging |
Het |
| Dvl1 |
T |
A |
4: 155,938,123 (GRCm39) |
D90E |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,534,225 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,335,879 (GRCm39) |
I438M |
probably benign |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gm9932 |
A |
T |
5: 100,346,794 (GRCm39) |
|
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpx7 |
C |
A |
4: 108,260,470 (GRCm39) |
V109F |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,336,591 (GRCm39) |
|
probably null |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| H1f4 |
T |
C |
13: 23,805,829 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,440,038 (GRCm39) |
Y32C |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Iigp1 |
T |
C |
18: 60,523,983 (GRCm39) |
I367T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,388,632 (GRCm39) |
E285G |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,622,915 (GRCm39) |
C662* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,075,863 (GRCm39) |
|
probably benign |
Het |
| Lipe |
T |
C |
7: 25,097,848 (GRCm39) |
T32A |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,698,898 (GRCm39) |
Y2475C |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,582,330 (GRCm39) |
D607G |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Mlc1 |
A |
T |
15: 88,850,199 (GRCm39) |
D192E |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,299,225 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,752,095 (GRCm39) |
D260G |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,257,297 (GRCm39) |
V305A |
probably benign |
Het |
| Nodal |
G |
A |
10: 61,260,276 (GRCm39) |
R309Q |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,476,881 (GRCm39) |
N128S |
possibly damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,421 (GRCm39) |
F105I |
probably damaging |
Het |
| Or12j5 |
A |
G |
7: 140,083,832 (GRCm39) |
I180T |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,884 (GRCm39) |
Y323C |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,461,757 (GRCm39) |
C585S |
probably benign |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Phactr3 |
T |
A |
2: 177,920,810 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,616,952 (GRCm39) |
D766V |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
G |
2: 111,058,399 (GRCm39) |
L131F |
probably damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,800,570 (GRCm39) |
T547S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,116,079 (GRCm39) |
M186K |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,757,112 (GRCm39) |
|
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,344,369 (GRCm39) |
D362G |
possibly damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,114 (GRCm39) |
L15P |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scrib |
A |
T |
15: 75,941,223 (GRCm39) |
I5N |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,399,326 (GRCm39) |
Q2005* |
probably null |
Het |
| Sppl3 |
A |
T |
5: 115,212,923 (GRCm39) |
S51C |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Sympk |
T |
C |
7: 18,768,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,844,987 (GRCm39) |
I6K |
unknown |
Het |
| Tas2r120 |
A |
T |
6: 132,634,731 (GRCm39) |
H271L |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,093,057 (GRCm39) |
D33G |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,943,856 (GRCm39) |
T986S |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,845 (GRCm39) |
H32R |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,410,573 (GRCm39) |
I360T |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,781 (GRCm39) |
E1054G |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,268,736 (GRCm39) |
|
probably null |
Het |
| Wee1 |
T |
A |
7: 109,730,043 (GRCm39) |
S382R |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,771 (GRCm39) |
S92P |
probably damaging |
Het |
| Zfp1004 |
C |
G |
2: 150,034,141 (GRCm39) |
P185R |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,160 (GRCm39) |
C593R |
probably damaging |
Het |
| Zfp879 |
T |
G |
11: 50,723,989 (GRCm39) |
I283L |
possibly 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 |
|
|
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 |
|
| Posted On |
2017-05-15 |
Incidental Mutation