Incidental Mutation 'IGL00642:Dhx57'
ID |
10160 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dhx57
|
Ensembl Gene |
ENSMUSG00000035051 |
Gene Name |
DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 |
Synonyms |
|
Accession Numbers |
NCBI RefSeq: NM_001163759.1, NM_198942.2; MGI:2147067
|
Is this an essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
IGL00642
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80238304-80290476 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80274976 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 400
(F400S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038166]
[ENSMUST00000086555]
|
AlphaFold |
Q6P5D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038166
AA Change: F347S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000041069 Gene: ENSMUSG00000035051 AA Change: F347S
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 benign
Transcript: ENSMUST00000086555
AA Change: F400S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000083742 Gene: ENSMUSG00000035051 AA Change: F400S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(25) : Gene trapped(25)
|
Other mutations in this stock |
Total: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
T |
C |
X: 81,420,938 |
R388G |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 3,960,842 |
Q533R |
probably damaging |
Het |
Ano4 |
C |
T |
10: 88,954,667 |
E892K |
probably damaging |
Het |
Arap2 |
G |
A |
5: 62,733,058 |
R347* |
probably null |
Het |
Cdc7 |
A |
G |
5: 106,968,860 |
I34V |
probably benign |
Het |
Copb2 |
T |
G |
9: 98,579,033 |
L383V |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,855,417 |
D605G |
possibly damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,330,169 |
Y181F |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,390,432 |
E1171G |
probably damaging |
Het |
Tars |
A |
G |
15: 11,394,372 |
Y60H |
probably damaging |
Het |
|
Other mutations in Dhx57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00811:Dhx57
|
APN |
17 |
80253243 |
missense |
probably damaging |
1.00 |
IGL01389:Dhx57
|
APN |
17 |
80281223 |
missense |
probably benign |
0.28 |
IGL01468:Dhx57
|
APN |
17 |
80255610 |
nonsense |
probably null |
|
IGL01908:Dhx57
|
APN |
17 |
80251443 |
missense |
probably damaging |
1.00 |
IGL01965:Dhx57
|
APN |
17 |
80268850 |
missense |
probably damaging |
1.00 |
IGL02147:Dhx57
|
APN |
17 |
80260323 |
missense |
possibly damaging |
0.95 |
IGL02275:Dhx57
|
APN |
17 |
80274839 |
missense |
probably benign |
0.13 |
IGL02349:Dhx57
|
APN |
17 |
80255571 |
missense |
probably damaging |
1.00 |
IGL02405:Dhx57
|
APN |
17 |
80255550 |
critical splice donor site |
probably null |
|
IGL02588:Dhx57
|
APN |
17 |
80268871 |
missense |
probably damaging |
1.00 |
IGL02673:Dhx57
|
APN |
17 |
80267545 |
missense |
probably damaging |
1.00 |
IGL02836:Dhx57
|
APN |
17 |
80267549 |
missense |
probably damaging |
1.00 |
IGL02889:Dhx57
|
APN |
17 |
80247152 |
missense |
possibly damaging |
0.90 |
IGL03085:Dhx57
|
APN |
17 |
80258097 |
missense |
possibly damaging |
0.48 |
P0014:Dhx57
|
UTSW |
17 |
80275191 |
missense |
probably benign |
0.00 |
PIT4377001:Dhx57
|
UTSW |
17 |
80263975 |
missense |
probably damaging |
0.96 |
R0100:Dhx57
|
UTSW |
17 |
80275156 |
missense |
possibly damaging |
0.82 |
R0100:Dhx57
|
UTSW |
17 |
80275156 |
missense |
possibly damaging |
0.82 |
R0129:Dhx57
|
UTSW |
17 |
80238914 |
missense |
probably damaging |
1.00 |
R0200:Dhx57
|
UTSW |
17 |
80251473 |
missense |
probably damaging |
1.00 |
R0309:Dhx57
|
UTSW |
17 |
80274881 |
missense |
probably damaging |
1.00 |
R0375:Dhx57
|
UTSW |
17 |
80258121 |
missense |
probably damaging |
1.00 |
R0396:Dhx57
|
UTSW |
17 |
80274797 |
missense |
probably benign |
0.34 |
R0520:Dhx57
|
UTSW |
17 |
80258175 |
missense |
possibly damaging |
0.95 |
R0554:Dhx57
|
UTSW |
17 |
80260236 |
nonsense |
probably null |
|
R0661:Dhx57
|
UTSW |
17 |
80268864 |
missense |
probably damaging |
1.00 |
R0883:Dhx57
|
UTSW |
17 |
80270371 |
missense |
probably damaging |
1.00 |
R0900:Dhx57
|
UTSW |
17 |
80275582 |
missense |
probably benign |
|
R0963:Dhx57
|
UTSW |
17 |
80275527 |
missense |
probably benign |
0.01 |
R1469:Dhx57
|
UTSW |
17 |
80254418 |
missense |
probably damaging |
1.00 |
R1469:Dhx57
|
UTSW |
17 |
80254418 |
missense |
probably damaging |
1.00 |
R1660:Dhx57
|
UTSW |
17 |
80245728 |
missense |
possibly damaging |
0.83 |
R1707:Dhx57
|
UTSW |
17 |
80275226 |
missense |
probably damaging |
0.96 |
R1822:Dhx57
|
UTSW |
17 |
80253085 |
critical splice donor site |
probably null |
|
R1853:Dhx57
|
UTSW |
17 |
80274879 |
nonsense |
probably null |
|
R1942:Dhx57
|
UTSW |
17 |
80265144 |
missense |
probably damaging |
1.00 |
R2043:Dhx57
|
UTSW |
17 |
80253080 |
splice site |
probably benign |
|
R2106:Dhx57
|
UTSW |
17 |
80275363 |
missense |
probably damaging |
1.00 |
R2127:Dhx57
|
UTSW |
17 |
80273048 |
missense |
probably damaging |
1.00 |
R2183:Dhx57
|
UTSW |
17 |
80275331 |
missense |
probably benign |
0.07 |
R2249:Dhx57
|
UTSW |
17 |
80281234 |
missense |
probably damaging |
0.98 |
R2400:Dhx57
|
UTSW |
17 |
80260416 |
missense |
probably damaging |
0.99 |
R2404:Dhx57
|
UTSW |
17 |
80254304 |
missense |
probably damaging |
0.98 |
R2513:Dhx57
|
UTSW |
17 |
80241949 |
splice site |
probably null |
|
R2869:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R2869:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R2870:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R2870:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R2871:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R2871:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R2874:Dhx57
|
UTSW |
17 |
80251376 |
missense |
probably benign |
0.22 |
R3819:Dhx57
|
UTSW |
17 |
80265074 |
critical splice donor site |
probably null |
|
R3964:Dhx57
|
UTSW |
17 |
80265112 |
nonsense |
probably null |
|
R4535:Dhx57
|
UTSW |
17 |
80275082 |
missense |
probably damaging |
1.00 |
R4666:Dhx57
|
UTSW |
17 |
80274961 |
missense |
probably damaging |
1.00 |
R4788:Dhx57
|
UTSW |
17 |
80275331 |
missense |
probably benign |
0.01 |
R4822:Dhx57
|
UTSW |
17 |
80242167 |
splice site |
probably null |
|
R4863:Dhx57
|
UTSW |
17 |
80253111 |
missense |
probably damaging |
1.00 |
R4988:Dhx57
|
UTSW |
17 |
80251398 |
missense |
probably damaging |
1.00 |
R5391:Dhx57
|
UTSW |
17 |
80275081 |
missense |
probably damaging |
1.00 |
R5559:Dhx57
|
UTSW |
17 |
80254379 |
missense |
possibly damaging |
0.53 |
R5644:Dhx57
|
UTSW |
17 |
80238873 |
missense |
possibly damaging |
0.73 |
R5997:Dhx57
|
UTSW |
17 |
80245806 |
missense |
probably damaging |
0.96 |
R6090:Dhx57
|
UTSW |
17 |
80263946 |
critical splice donor site |
probably null |
|
R6177:Dhx57
|
UTSW |
17 |
80272966 |
missense |
possibly damaging |
0.91 |
R6283:Dhx57
|
UTSW |
17 |
80274805 |
missense |
probably benign |
0.00 |
R6802:Dhx57
|
UTSW |
17 |
80275321 |
missense |
probably benign |
0.43 |
R6924:Dhx57
|
UTSW |
17 |
80238815 |
missense |
possibly damaging |
0.71 |
R7151:Dhx57
|
UTSW |
17 |
80273047 |
missense |
probably damaging |
1.00 |
R7386:Dhx57
|
UTSW |
17 |
80267577 |
missense |
possibly damaging |
0.89 |
R7393:Dhx57
|
UTSW |
17 |
80255571 |
missense |
probably damaging |
1.00 |
R7451:Dhx57
|
UTSW |
17 |
80247113 |
missense |
probably damaging |
1.00 |
R7602:Dhx57
|
UTSW |
17 |
80274861 |
missense |
probably benign |
0.06 |
R7733:Dhx57
|
UTSW |
17 |
80265074 |
critical splice donor site |
probably null |
|
R7748:Dhx57
|
UTSW |
17 |
80265117 |
missense |
probably damaging |
1.00 |
R7749:Dhx57
|
UTSW |
17 |
80238858 |
missense |
probably benign |
0.04 |
R7772:Dhx57
|
UTSW |
17 |
80273078 |
missense |
possibly damaging |
0.71 |
R8213:Dhx57
|
UTSW |
17 |
80275156 |
missense |
possibly damaging |
0.82 |
R8370:Dhx57
|
UTSW |
17 |
80245763 |
missense |
probably damaging |
1.00 |
R8371:Dhx57
|
UTSW |
17 |
80275490 |
missense |
probably benign |
0.18 |
R8403:Dhx57
|
UTSW |
17 |
80278289 |
missense |
probably damaging |
1.00 |
R8467:Dhx57
|
UTSW |
17 |
80254424 |
missense |
probably damaging |
1.00 |
R8690:Dhx57
|
UTSW |
17 |
80270365 |
critical splice donor site |
probably benign |
|
R9210:Dhx57
|
UTSW |
17 |
80268909 |
missense |
probably damaging |
1.00 |
R9212:Dhx57
|
UTSW |
17 |
80268909 |
missense |
probably damaging |
1.00 |
R9447:Dhx57
|
UTSW |
17 |
80242094 |
missense |
probably damaging |
1.00 |
R9562:Dhx57
|
UTSW |
17 |
80254388 |
missense |
probably damaging |
1.00 |
R9669:Dhx57
|
UTSW |
17 |
80245701 |
missense |
probably benign |
0.09 |
R9717:Dhx57
|
UTSW |
17 |
80275018 |
missense |
probably damaging |
1.00 |
Z1088:Dhx57
|
UTSW |
17 |
80251348 |
missense |
probably damaging |
1.00 |
Z1176:Dhx57
|
UTSW |
17 |
80245805 |
missense |
probably damaging |
0.96 |
|
Posted On |
2012-12-06 |