Incidental Mutation 'R4179:Dqx1'
ID |
319625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dqx1
|
Ensembl Gene |
ENSMUSG00000009145 |
Gene Name |
DEAQ RNA-dependent ATPase |
Synonyms |
2310066E11Rik |
MMRRC Submission |
041015-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R4179 (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 83036460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 155
(T155A)
|
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: T155A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076708 Gene: ENSMUSG00000009145 AA Change: T155A
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 |
probably benign
Transcript: ENSMUST00000203915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204803
AA Change: T155A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000144697 Gene: ENSMUSG00000009145 AA Change: T155A
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: ENSMUST00000204895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
Meta Mutation Damage Score |
0.0707 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,104,128 (GRCm39) |
M506V |
probably benign |
Het |
Ano1 |
A |
T |
7: 144,204,242 (GRCm39) |
M290K |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,289,821 (GRCm39) |
L34Q |
probably damaging |
Het |
Cdadc1 |
G |
T |
14: 59,829,935 (GRCm39) |
T77N |
probably benign |
Het |
Cmtr2 |
C |
G |
8: 110,947,669 (GRCm39) |
|
probably null |
Het |
Cnot2 |
A |
T |
10: 116,334,048 (GRCm39) |
V374E |
possibly damaging |
Het |
Crnn |
T |
C |
3: 93,054,120 (GRCm39) |
M1T |
probably null |
Het |
Ctsb |
A |
G |
14: 63,370,901 (GRCm39) |
N38D |
probably benign |
Het |
Dock10 |
A |
C |
1: 80,488,134 (GRCm39) |
S2010A |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Eci1 |
T |
C |
17: 24,655,251 (GRCm39) |
W119R |
probably damaging |
Het |
Foxo1 |
C |
A |
3: 52,252,840 (GRCm39) |
D334E |
probably benign |
Het |
Gck |
T |
C |
11: 5,860,295 (GRCm39) |
T116A |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,726,109 (GRCm39) |
V588A |
probably benign |
Het |
Gm7168 |
A |
G |
17: 14,169,265 (GRCm39) |
I211V |
probably benign |
Het |
Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
Jag1 |
A |
G |
2: 136,943,578 (GRCm39) |
F206S |
probably damaging |
Het |
Loxl3 |
G |
A |
6: 83,014,565 (GRCm39) |
V158I |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,027,567 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
G |
1: 51,817,685 (GRCm39) |
F532L |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,084,086 (GRCm39) |
H498Y |
possibly damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,387 (GRCm39) |
I226T |
probably benign |
Het |
Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
Pcdha2 |
T |
A |
18: 37,074,529 (GRCm39) |
L720Q |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,534,168 (GRCm39) |
M54K |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,130,590 (GRCm39) |
*71W |
probably null |
Het |
Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,387,045 (GRCm39) |
Y1306S |
probably benign |
Het |
Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Prkd1 |
C |
A |
12: 50,413,231 (GRCm39) |
G647C |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,606,729 (GRCm39) |
I1510T |
probably benign |
Het |
Ranbp3l |
T |
C |
15: 9,057,279 (GRCm39) |
I314T |
possibly damaging |
Het |
Rgs9 |
C |
A |
11: 109,172,274 (GRCm39) |
|
probably null |
Het |
Riok1 |
T |
C |
13: 38,232,931 (GRCm39) |
F216L |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,106,405 (GRCm39) |
I308N |
probably damaging |
Het |
Serpina1f |
A |
T |
12: 103,658,179 (GRCm39) |
M242K |
probably benign |
Het |
Smox |
G |
A |
2: 131,366,770 (GRCm39) |
M576I |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,636,435 (GRCm39) |
N87I |
probably damaging |
Het |
Spink5 |
A |
T |
18: 44,120,934 (GRCm39) |
Q296L |
probably benign |
Het |
Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
T |
A |
7: 45,384,735 (GRCm39) |
I114F |
probably damaging |
Het |
Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tsen54 |
T |
C |
11: 115,711,678 (GRCm39) |
V365A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp47 |
T |
C |
7: 111,687,091 (GRCm39) |
L683P |
probably damaging |
Het |
Wdr18 |
T |
C |
10: 79,800,875 (GRCm39) |
L146P |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,750 (GRCm39) |
Y392C |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,888,601 (GRCm39) |
I828N |
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 |
|
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 |
|
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'- GTGCATAAACCAAGTGCTCTC -3'
(R):5'- GAATTGCCCCAGAAAGCCTG -3'
Sequencing Primer
(F):5'- GTGGGATCACACTTAATGGTCCAC -3'
(R):5'- GAAAGCCTGGAATTTTGGTTCAAGC -3'
|
Posted On |
2015-06-10 |