Incidental Mutation 'R1942:Dhx57'
ID |
216331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhx57
|
Ensembl Gene |
ENSMUSG00000035051 |
Gene Name |
DExH-box helicase 57 |
Synonyms |
|
MMRRC Submission |
039960-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R1942 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80545733-80597620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80572573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 647
(M647K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038166]
[ENSMUST00000086555]
|
AlphaFold |
Q6P5D3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038166
AA Change: M647K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041069 Gene: ENSMUSG00000035051 AA Change: M647K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
50 |
N/A |
INTRINSIC |
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
UBA
|
129 |
166 |
1.04e-3 |
SMART |
ZnF_C3H1
|
246 |
272 |
4.07e-6 |
SMART |
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
low complexity region
|
381 |
390 |
N/A |
INTRINSIC |
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
DEXDc
|
490 |
678 |
1.27e-28 |
SMART |
Blast:DEXDc
|
688 |
752 |
2e-28 |
BLAST |
HELICc
|
810 |
918 |
3.22e-16 |
SMART |
HA2
|
984 |
1074 |
1.64e-24 |
SMART |
Pfam:OB_NTP_bind
|
1113 |
1262 |
1.5e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086555
AA Change: M700K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083742 Gene: ENSMUSG00000035051 AA Change: M700K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
50 |
N/A |
INTRINSIC |
low complexity region
|
169 |
178 |
N/A |
INTRINSIC |
UBA
|
182 |
219 |
1.04e-3 |
SMART |
ZnF_C3H1
|
299 |
325 |
4.07e-6 |
SMART |
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
low complexity region
|
476 |
485 |
N/A |
INTRINSIC |
DEXDc
|
543 |
731 |
1.27e-28 |
SMART |
Blast:DEXDc
|
741 |
805 |
1e-28 |
BLAST |
HELICc
|
863 |
971 |
3.22e-16 |
SMART |
HA2
|
1037 |
1127 |
1.64e-24 |
SMART |
Pfam:OB_NTP_bind
|
1166 |
1315 |
8.5e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.8611 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
All alleles(25) : Gene trapped(25)
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
T |
15: 81,949,625 (GRCm39) |
Y1174F |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,992,447 (GRCm39) |
E4577G |
probably damaging |
Het |
Anapc4 |
T |
C |
5: 53,004,056 (GRCm39) |
V291A |
probably benign |
Het |
Apba2 |
A |
G |
7: 64,345,218 (GRCm39) |
E136G |
possibly damaging |
Het |
Arhgap20 |
C |
A |
9: 51,742,998 (GRCm39) |
Q279K |
probably benign |
Het |
B3galnt1 |
A |
T |
3: 69,483,258 (GRCm39) |
M1K |
probably null |
Het |
C4bp |
C |
A |
1: 130,583,804 (GRCm39) |
|
probably benign |
Het |
Catsperg1 |
G |
A |
7: 28,906,232 (GRCm39) |
T157I |
possibly damaging |
Het |
Cfap90 |
A |
C |
13: 68,761,090 (GRCm39) |
I171L |
probably benign |
Het |
Chrm1 |
T |
A |
19: 8,655,637 (GRCm39) |
M114K |
probably damaging |
Het |
Clasp1 |
A |
G |
1: 118,429,078 (GRCm39) |
E329G |
possibly damaging |
Het |
Clrn2 |
A |
C |
5: 45,611,337 (GRCm39) |
Y62S |
probably benign |
Het |
Col12a1 |
T |
G |
9: 79,542,748 (GRCm39) |
D2339A |
probably damaging |
Het |
Copa |
T |
A |
1: 171,939,455 (GRCm39) |
L564Q |
probably damaging |
Het |
Cpeb2 |
C |
A |
5: 43,392,596 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
C |
T |
14: 87,378,556 (GRCm39) |
|
probably benign |
Het |
Eomes |
A |
G |
9: 118,313,716 (GRCm39) |
D587G |
probably benign |
Het |
Gm5142 |
T |
A |
14: 59,416,156 (GRCm39) |
M1L |
probably benign |
Het |
Gnl2 |
A |
G |
4: 124,923,957 (GRCm39) |
I12V |
probably benign |
Het |
Gprin1 |
C |
T |
13: 54,887,752 (GRCm39) |
C174Y |
probably benign |
Het |
Grin2b |
A |
T |
6: 135,709,730 (GRCm39) |
V1272E |
possibly damaging |
Het |
Hdac9 |
A |
G |
12: 34,479,544 (GRCm39) |
L227S |
probably damaging |
Het |
Helz |
T |
A |
11: 107,493,318 (GRCm39) |
L247Q |
probably benign |
Het |
Hs6st1 |
T |
C |
1: 36,107,803 (GRCm39) |
V22A |
probably benign |
Het |
Hspg2 |
C |
A |
4: 137,269,863 (GRCm39) |
A2304E |
possibly damaging |
Het |
Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
Il1rap |
A |
C |
16: 26,541,205 (GRCm39) |
E482A |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,689,670 (GRCm39) |
L581* |
probably null |
Het |
Msmb |
A |
G |
14: 31,870,034 (GRCm39) |
E2G |
probably benign |
Het |
Muc19 |
T |
C |
15: 91,776,666 (GRCm39) |
|
noncoding transcript |
Het |
Muc4 |
A |
C |
16: 32,569,460 (GRCm39) |
L173F |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,411,421 (GRCm39) |
S1456C |
unknown |
Het |
Mylip |
A |
T |
13: 45,560,172 (GRCm39) |
I203F |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,952,039 (GRCm39) |
D1504E |
probably damaging |
Het |
Neil1 |
C |
G |
9: 57,053,891 (GRCm39) |
R143P |
probably benign |
Het |
Nlrp2 |
T |
A |
7: 5,325,447 (GRCm39) |
T742S |
probably damaging |
Het |
Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
Nsun7 |
C |
T |
5: 66,441,588 (GRCm39) |
T419I |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,058,544 (GRCm39) |
E648K |
probably benign |
Het |
Or10g6 |
T |
A |
9: 39,934,031 (GRCm39) |
L114H |
probably damaging |
Het |
Or10g6 |
T |
C |
9: 39,934,048 (GRCm39) |
Y120H |
probably damaging |
Het |
Or2y1c |
T |
C |
11: 49,360,981 (GRCm39) |
M1T |
probably null |
Het |
Or8s2 |
A |
G |
15: 98,276,445 (GRCm39) |
L182P |
probably damaging |
Het |
Parp11 |
A |
C |
6: 127,447,663 (GRCm39) |
|
probably null |
Het |
Pomgnt1 |
G |
T |
4: 116,012,472 (GRCm39) |
|
probably null |
Het |
Ppp1r14c |
T |
C |
10: 3,413,417 (GRCm39) |
I150T |
probably damaging |
Het |
Psd4 |
A |
G |
2: 24,295,805 (GRCm39) |
E908G |
probably damaging |
Het |
Psmd6 |
A |
T |
14: 14,116,442 (GRCm38) |
V91E |
probably damaging |
Het |
Ptk2b |
A |
T |
14: 66,406,830 (GRCm39) |
V634D |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
Rbm45 |
G |
A |
2: 76,205,823 (GRCm39) |
|
probably null |
Het |
Ric1 |
A |
G |
19: 29,578,416 (GRCm39) |
|
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,282,689 (GRCm39) |
K416E |
probably damaging |
Het |
Six5 |
C |
T |
7: 18,830,858 (GRCm39) |
A495V |
possibly damaging |
Het |
Slc27a6 |
T |
A |
18: 58,689,870 (GRCm39) |
M112K |
probably damaging |
Het |
Slc5a4a |
T |
C |
10: 75,983,422 (GRCm39) |
S20P |
unknown |
Het |
Smg1 |
A |
G |
7: 117,757,326 (GRCm39) |
|
probably benign |
Het |
Sntb2 |
G |
A |
8: 107,737,984 (GRCm39) |
A511T |
probably damaging |
Het |
Stk31 |
A |
T |
6: 49,416,061 (GRCm39) |
N622I |
probably damaging |
Het |
Sulf1 |
T |
C |
1: 12,918,397 (GRCm39) |
F38S |
probably damaging |
Het |
Szt2 |
G |
T |
4: 118,249,817 (GRCm39) |
T521K |
probably benign |
Het |
Terf1 |
G |
T |
1: 15,876,038 (GRCm39) |
R46I |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,923,511 (GRCm39) |
|
probably benign |
Het |
Tmigd1 |
T |
C |
11: 76,804,905 (GRCm39) |
|
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Umod |
A |
G |
7: 119,076,155 (GRCm39) |
Y204H |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,851,543 (GRCm39) |
Q1139L |
probably benign |
Het |
Vmn1r85 |
T |
A |
7: 12,818,668 (GRCm39) |
T159S |
possibly damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,032,562 (GRCm39) |
S779T |
probably benign |
Het |
Vmn2r27 |
C |
T |
6: 124,200,722 (GRCm39) |
A412T |
probably damaging |
Het |
Zc3h12d |
A |
C |
10: 7,729,077 (GRCm39) |
D147A |
probably damaging |
Het |
Zfp800 |
A |
T |
6: 28,243,272 (GRCm39) |
D564E |
probably benign |
Het |
Zfp932 |
A |
G |
5: 110,154,853 (GRCm39) |
E17G |
probably damaging |
Het |
|
Other mutations in Dhx57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00642:Dhx57
|
APN |
17 |
80,582,405 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00811:Dhx57
|
APN |
17 |
80,560,672 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01389:Dhx57
|
APN |
17 |
80,588,652 (GRCm39) |
missense |
probably benign |
0.28 |
IGL01468:Dhx57
|
APN |
17 |
80,563,039 (GRCm39) |
nonsense |
probably null |
|
IGL01908:Dhx57
|
APN |
17 |
80,558,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01965:Dhx57
|
APN |
17 |
80,576,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02147:Dhx57
|
APN |
17 |
80,567,752 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02275:Dhx57
|
APN |
17 |
80,582,268 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02349:Dhx57
|
APN |
17 |
80,563,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02405:Dhx57
|
APN |
17 |
80,562,979 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02588:Dhx57
|
APN |
17 |
80,576,300 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02673:Dhx57
|
APN |
17 |
80,574,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02836:Dhx57
|
APN |
17 |
80,574,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02889:Dhx57
|
APN |
17 |
80,554,581 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03085:Dhx57
|
APN |
17 |
80,565,526 (GRCm39) |
missense |
possibly damaging |
0.48 |
P0014:Dhx57
|
UTSW |
17 |
80,582,620 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4377001:Dhx57
|
UTSW |
17 |
80,571,404 (GRCm39) |
missense |
probably damaging |
0.96 |
R0100:Dhx57
|
UTSW |
17 |
80,582,585 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0100:Dhx57
|
UTSW |
17 |
80,582,585 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0129:Dhx57
|
UTSW |
17 |
80,546,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Dhx57
|
UTSW |
17 |
80,558,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Dhx57
|
UTSW |
17 |
80,582,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R0375:Dhx57
|
UTSW |
17 |
80,565,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Dhx57
|
UTSW |
17 |
80,582,226 (GRCm39) |
missense |
probably benign |
0.34 |
R0520:Dhx57
|
UTSW |
17 |
80,565,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0554:Dhx57
|
UTSW |
17 |
80,567,665 (GRCm39) |
nonsense |
probably null |
|
R0661:Dhx57
|
UTSW |
17 |
80,576,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Dhx57
|
UTSW |
17 |
80,577,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R0900:Dhx57
|
UTSW |
17 |
80,583,011 (GRCm39) |
missense |
probably benign |
|
R0963:Dhx57
|
UTSW |
17 |
80,582,956 (GRCm39) |
missense |
probably benign |
0.01 |
R1469:Dhx57
|
UTSW |
17 |
80,561,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Dhx57
|
UTSW |
17 |
80,561,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Dhx57
|
UTSW |
17 |
80,553,157 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1707:Dhx57
|
UTSW |
17 |
80,582,655 (GRCm39) |
missense |
probably damaging |
0.96 |
R1822:Dhx57
|
UTSW |
17 |
80,560,514 (GRCm39) |
critical splice donor site |
probably null |
|
R1853:Dhx57
|
UTSW |
17 |
80,582,308 (GRCm39) |
nonsense |
probably null |
|
R2043:Dhx57
|
UTSW |
17 |
80,560,509 (GRCm39) |
splice site |
probably benign |
|
R2106:Dhx57
|
UTSW |
17 |
80,582,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R2127:Dhx57
|
UTSW |
17 |
80,580,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R2183:Dhx57
|
UTSW |
17 |
80,582,760 (GRCm39) |
missense |
probably benign |
0.07 |
R2249:Dhx57
|
UTSW |
17 |
80,588,663 (GRCm39) |
missense |
probably damaging |
0.98 |
R2400:Dhx57
|
UTSW |
17 |
80,567,845 (GRCm39) |
missense |
probably damaging |
0.99 |
R2404:Dhx57
|
UTSW |
17 |
80,561,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R2513:Dhx57
|
UTSW |
17 |
80,549,378 (GRCm39) |
splice site |
probably null |
|
R2869:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R2869:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R2870:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R2870:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R2871:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R2871:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R2874:Dhx57
|
UTSW |
17 |
80,558,805 (GRCm39) |
missense |
probably benign |
0.22 |
R3819:Dhx57
|
UTSW |
17 |
80,572,503 (GRCm39) |
critical splice donor site |
probably null |
|
R3964:Dhx57
|
UTSW |
17 |
80,572,541 (GRCm39) |
nonsense |
probably null |
|
R4535:Dhx57
|
UTSW |
17 |
80,582,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Dhx57
|
UTSW |
17 |
80,582,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4788:Dhx57
|
UTSW |
17 |
80,582,760 (GRCm39) |
missense |
probably benign |
0.01 |
R4822:Dhx57
|
UTSW |
17 |
80,549,596 (GRCm39) |
splice site |
probably null |
|
R4863:Dhx57
|
UTSW |
17 |
80,560,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R4988:Dhx57
|
UTSW |
17 |
80,558,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Dhx57
|
UTSW |
17 |
80,582,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R5559:Dhx57
|
UTSW |
17 |
80,561,808 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5644:Dhx57
|
UTSW |
17 |
80,546,302 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5997:Dhx57
|
UTSW |
17 |
80,553,235 (GRCm39) |
missense |
probably damaging |
0.96 |
R6090:Dhx57
|
UTSW |
17 |
80,571,375 (GRCm39) |
critical splice donor site |
probably null |
|
R6177:Dhx57
|
UTSW |
17 |
80,580,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6283:Dhx57
|
UTSW |
17 |
80,582,234 (GRCm39) |
missense |
probably benign |
0.00 |
R6802:Dhx57
|
UTSW |
17 |
80,582,750 (GRCm39) |
missense |
probably benign |
0.43 |
R6924:Dhx57
|
UTSW |
17 |
80,546,244 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7151:Dhx57
|
UTSW |
17 |
80,580,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R7386:Dhx57
|
UTSW |
17 |
80,575,006 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7393:Dhx57
|
UTSW |
17 |
80,563,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Dhx57
|
UTSW |
17 |
80,554,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Dhx57
|
UTSW |
17 |
80,582,290 (GRCm39) |
missense |
probably benign |
0.06 |
R7733:Dhx57
|
UTSW |
17 |
80,572,503 (GRCm39) |
critical splice donor site |
probably null |
|
R7748:Dhx57
|
UTSW |
17 |
80,572,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R7749:Dhx57
|
UTSW |
17 |
80,546,287 (GRCm39) |
missense |
probably benign |
0.04 |
R7772:Dhx57
|
UTSW |
17 |
80,580,507 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8213:Dhx57
|
UTSW |
17 |
80,582,585 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8370:Dhx57
|
UTSW |
17 |
80,553,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Dhx57
|
UTSW |
17 |
80,582,919 (GRCm39) |
missense |
probably benign |
0.18 |
R8403:Dhx57
|
UTSW |
17 |
80,585,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R8467:Dhx57
|
UTSW |
17 |
80,561,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8690:Dhx57
|
UTSW |
17 |
80,577,794 (GRCm39) |
critical splice donor site |
probably benign |
|
R9210:Dhx57
|
UTSW |
17 |
80,576,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Dhx57
|
UTSW |
17 |
80,576,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R9447:Dhx57
|
UTSW |
17 |
80,549,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Dhx57
|
UTSW |
17 |
80,561,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R9669:Dhx57
|
UTSW |
17 |
80,553,130 (GRCm39) |
missense |
probably benign |
0.09 |
R9717:Dhx57
|
UTSW |
17 |
80,582,447 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Dhx57
|
UTSW |
17 |
80,558,777 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Dhx57
|
UTSW |
17 |
80,553,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTCATCAGCTGCTTTACATTGG -3'
(R):5'- ACTGTTCTCAAGTGGCACATC -3'
Sequencing Primer
(F):5'- GAGTTAACGACTTCTCTAGGACATGC -3'
(R):5'- CAAGTGGCACATCTAAGTTTTACAC -3'
|
Posted On |
2014-08-01 |