Incidental Mutation 'R4788:Dhx57'
ID |
367284 |
Institutional Source |
Beutler Lab
|
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
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R4788 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
80238304-80290476 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80275331 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 229
(T229A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038166]
[ENSMUST00000086555]
|
AlphaFold |
Q6P5D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038166
AA Change: T229A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000041069 Gene: ENSMUSG00000035051 AA Change: T229A
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: T282A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083742 Gene: ENSMUSG00000035051 AA Change: T282A
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 |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(25) : Gene trapped(25)
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010300C02Rik |
A |
T |
1: 37,631,475 (GRCm38) |
I128K |
probably damaging |
Het |
Abca4 |
G |
A |
3: 122,166,712 (GRCm38) |
D815N |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,620,730 (GRCm38) |
C1135* |
probably null |
Het |
Ap3b1 |
G |
A |
13: 94,565,641 (GRCm38) |
M1067I |
unknown |
Het |
Arhgap15 |
T |
C |
2: 43,748,890 (GRCm38) |
M1T |
probably null |
Het |
Boc |
T |
C |
16: 44,500,433 (GRCm38) |
D288G |
probably damaging |
Het |
Brsk1 |
G |
T |
7: 4,698,955 (GRCm38) |
|
probably null |
Het |
Cabp1 |
T |
C |
5: 115,175,471 (GRCm38) |
N226S |
probably benign |
Het |
Capn13 |
A |
T |
17: 73,337,432 (GRCm38) |
Y367* |
probably null |
Het |
Ccdc191 |
A |
G |
16: 43,956,822 (GRCm38) |
E632G |
probably damaging |
Het |
Cit |
T |
C |
5: 115,933,506 (GRCm38) |
S591P |
probably damaging |
Het |
Ckmt1 |
T |
C |
2: 121,359,946 (GRCm38) |
V118A |
possibly damaging |
Het |
Cndp2 |
T |
C |
18: 84,675,164 (GRCm38) |
N157S |
probably damaging |
Het |
Col6a3 |
A |
G |
1: 90,772,950 (GRCm38) |
|
probably null |
Het |
Coq2 |
A |
T |
5: 100,657,909 (GRCm38) |
V287E |
probably damaging |
Het |
Cpa6 |
T |
C |
1: 10,408,277 (GRCm38) |
K278R |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,450,750 (GRCm38) |
D246H |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,985,082 (GRCm38) |
Y347* |
probably null |
Het |
Dcun1d4 |
G |
T |
5: 73,534,628 (GRCm38) |
W160L |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,819,963 (GRCm38) |
T994A |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,129,530 (GRCm38) |
R1741S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 135,145,484 (GRCm38) |
V1508D |
probably damaging |
Het |
Donson |
T |
C |
16: 91,687,833 (GRCm38) |
T117A |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,772,699 (GRCm38) |
D533G |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,457,188 (GRCm38) |
N470S |
probably damaging |
Het |
Focad |
T |
A |
4: 88,357,469 (GRCm38) |
V1105E |
unknown |
Het |
Fry |
T |
C |
5: 150,399,636 (GRCm38) |
V1084A |
probably benign |
Het |
Gabra1 |
G |
T |
11: 42,147,153 (GRCm38) |
R213S |
probably damaging |
Het |
Gbp2b |
A |
C |
3: 142,611,410 (GRCm38) |
K509T |
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,615,008 (GRCm38) |
T811A |
probably benign |
Het |
Hmgcs2 |
A |
G |
3: 98,291,084 (GRCm38) |
D101G |
probably damaging |
Het |
Ifna11 |
G |
A |
4: 88,820,008 (GRCm38) |
W17* |
probably null |
Het |
Ighv1-62-3 |
T |
A |
12: 115,461,052 (GRCm38) |
M100L |
probably benign |
Het |
Lgmn |
T |
A |
12: 102,402,677 (GRCm38) |
Y181F |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,003,916 (GRCm38) |
S644P |
probably benign |
Het |
Med9 |
T |
A |
11: 59,948,440 (GRCm38) |
N58K |
probably benign |
Het |
Nav1 |
C |
T |
1: 135,469,723 (GRCm38) |
A903T |
probably benign |
Het |
Nop53 |
T |
C |
7: 15,942,315 (GRCm38) |
E153G |
possibly damaging |
Het |
Nop56 |
G |
T |
2: 130,278,900 (GRCm38) |
V190L |
probably benign |
Het |
Nyap2 |
A |
T |
1: 81,269,397 (GRCm38) |
M687L |
probably benign |
Het |
Olfr1254 |
G |
A |
2: 89,789,136 (GRCm38) |
S72F |
probably damaging |
Het |
Olfr146 |
T |
C |
9: 39,018,921 (GRCm38) |
T207A |
probably benign |
Het |
Olfr943 |
A |
G |
9: 39,184,612 (GRCm38) |
T145A |
probably benign |
Het |
Osbp2 |
T |
C |
11: 3,863,320 (GRCm38) |
K183R |
probably benign |
Het |
Pappa2 |
A |
G |
1: 158,783,917 (GRCm38) |
V1492A |
possibly damaging |
Het |
Pax1 |
A |
G |
2: 147,366,204 (GRCm38) |
Q244R |
possibly damaging |
Het |
Pcdh9 |
C |
A |
14: 93,887,415 (GRCm38) |
V317F |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,498,021 (GRCm38) |
Q489L |
probably damaging |
Het |
Poln |
A |
T |
5: 34,129,331 (GRCm38) |
S164R |
probably benign |
Het |
Ptf1a |
T |
C |
2: 19,445,951 (GRCm38) |
S31P |
probably benign |
Het |
Rasal3 |
A |
T |
17: 32,399,338 (GRCm38) |
D164E |
probably benign |
Het |
Rnf170 |
A |
G |
8: 26,140,863 (GRCm38) |
E168G |
probably damaging |
Het |
Rubcn |
A |
G |
16: 32,836,408 (GRCm38) |
|
probably null |
Het |
Sec16b |
A |
T |
1: 157,561,524 (GRCm38) |
T830S |
possibly damaging |
Het |
Sel1l3 |
A |
G |
5: 53,131,833 (GRCm38) |
V882A |
probably benign |
Het |
Sfpq |
A |
G |
4: 127,025,998 (GRCm38) |
E512G |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,314,079 (GRCm38) |
L187P |
probably damaging |
Het |
Skint6 |
C |
T |
4: 113,238,336 (GRCm38) |
G42D |
possibly damaging |
Het |
Slc7a2 |
A |
G |
8: 40,913,986 (GRCm38) |
I526V |
probably benign |
Het |
Spata48 |
T |
C |
11: 11,488,652 (GRCm38) |
|
probably null |
Het |
Ssh2 |
A |
T |
11: 77,429,798 (GRCm38) |
N328Y |
probably damaging |
Het |
Taok2 |
G |
A |
7: 126,868,132 (GRCm38) |
S167L |
possibly damaging |
Het |
Tcrg-V5 |
A |
G |
13: 19,192,554 (GRCm38) |
K57R |
probably benign |
Het |
Tom1l2 |
A |
G |
11: 60,249,018 (GRCm38) |
L275P |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,844,943 (GRCm38) |
R356* |
probably null |
Het |
Zan |
A |
G |
5: 137,442,113 (GRCm38) |
L1953P |
unknown |
Het |
Zfhx3 |
T |
C |
8: 108,794,210 (GRCm38) |
S655P |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 127,054,297 (GRCm38) |
T94A |
probably benign |
Het |
|
Other mutations in Dhx57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00642:Dhx57
|
APN |
17 |
80,274,976 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00811:Dhx57
|
APN |
17 |
80,253,243 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01389:Dhx57
|
APN |
17 |
80,281,223 (GRCm38) |
missense |
probably benign |
0.28 |
IGL01468:Dhx57
|
APN |
17 |
80,255,610 (GRCm38) |
nonsense |
probably null |
|
IGL01908:Dhx57
|
APN |
17 |
80,251,443 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01965:Dhx57
|
APN |
17 |
80,268,850 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02147:Dhx57
|
APN |
17 |
80,260,323 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL02275:Dhx57
|
APN |
17 |
80,274,839 (GRCm38) |
missense |
probably benign |
0.13 |
IGL02349:Dhx57
|
APN |
17 |
80,255,571 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02405:Dhx57
|
APN |
17 |
80,255,550 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02588:Dhx57
|
APN |
17 |
80,268,871 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02673:Dhx57
|
APN |
17 |
80,267,545 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02836:Dhx57
|
APN |
17 |
80,267,549 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02889:Dhx57
|
APN |
17 |
80,247,152 (GRCm38) |
missense |
possibly damaging |
0.90 |
IGL03085:Dhx57
|
APN |
17 |
80,258,097 (GRCm38) |
missense |
possibly damaging |
0.48 |
P0014:Dhx57
|
UTSW |
17 |
80,275,191 (GRCm38) |
missense |
probably benign |
0.00 |
PIT4377001:Dhx57
|
UTSW |
17 |
80,263,975 (GRCm38) |
missense |
probably damaging |
0.96 |
R0100:Dhx57
|
UTSW |
17 |
80,275,156 (GRCm38) |
missense |
possibly damaging |
0.82 |
R0100:Dhx57
|
UTSW |
17 |
80,275,156 (GRCm38) |
missense |
possibly damaging |
0.82 |
R0129:Dhx57
|
UTSW |
17 |
80,238,914 (GRCm38) |
missense |
probably damaging |
1.00 |
R0200:Dhx57
|
UTSW |
17 |
80,251,473 (GRCm38) |
missense |
probably damaging |
1.00 |
R0309:Dhx57
|
UTSW |
17 |
80,274,881 (GRCm38) |
missense |
probably damaging |
1.00 |
R0375:Dhx57
|
UTSW |
17 |
80,258,121 (GRCm38) |
missense |
probably damaging |
1.00 |
R0396:Dhx57
|
UTSW |
17 |
80,274,797 (GRCm38) |
missense |
probably benign |
0.34 |
R0520:Dhx57
|
UTSW |
17 |
80,258,175 (GRCm38) |
missense |
possibly damaging |
0.95 |
R0554:Dhx57
|
UTSW |
17 |
80,260,236 (GRCm38) |
nonsense |
probably null |
|
R0661:Dhx57
|
UTSW |
17 |
80,268,864 (GRCm38) |
missense |
probably damaging |
1.00 |
R0883:Dhx57
|
UTSW |
17 |
80,270,371 (GRCm38) |
missense |
probably damaging |
1.00 |
R0900:Dhx57
|
UTSW |
17 |
80,275,582 (GRCm38) |
missense |
probably benign |
|
R0963:Dhx57
|
UTSW |
17 |
80,275,527 (GRCm38) |
missense |
probably benign |
0.01 |
R1469:Dhx57
|
UTSW |
17 |
80,254,418 (GRCm38) |
missense |
probably damaging |
1.00 |
R1469:Dhx57
|
UTSW |
17 |
80,254,418 (GRCm38) |
missense |
probably damaging |
1.00 |
R1660:Dhx57
|
UTSW |
17 |
80,245,728 (GRCm38) |
missense |
possibly damaging |
0.83 |
R1707:Dhx57
|
UTSW |
17 |
80,275,226 (GRCm38) |
missense |
probably damaging |
0.96 |
R1822:Dhx57
|
UTSW |
17 |
80,253,085 (GRCm38) |
critical splice donor site |
probably null |
|
R1853:Dhx57
|
UTSW |
17 |
80,274,879 (GRCm38) |
nonsense |
probably null |
|
R1942:Dhx57
|
UTSW |
17 |
80,265,144 (GRCm38) |
missense |
probably damaging |
1.00 |
R2043:Dhx57
|
UTSW |
17 |
80,253,080 (GRCm38) |
splice site |
probably benign |
|
R2106:Dhx57
|
UTSW |
17 |
80,275,363 (GRCm38) |
missense |
probably damaging |
1.00 |
R2127:Dhx57
|
UTSW |
17 |
80,273,048 (GRCm38) |
missense |
probably damaging |
1.00 |
R2183:Dhx57
|
UTSW |
17 |
80,275,331 (GRCm38) |
missense |
probably benign |
0.07 |
R2249:Dhx57
|
UTSW |
17 |
80,281,234 (GRCm38) |
missense |
probably damaging |
0.98 |
R2400:Dhx57
|
UTSW |
17 |
80,260,416 (GRCm38) |
missense |
probably damaging |
0.99 |
R2404:Dhx57
|
UTSW |
17 |
80,254,304 (GRCm38) |
missense |
probably damaging |
0.98 |
R2513:Dhx57
|
UTSW |
17 |
80,241,949 (GRCm38) |
splice site |
probably null |
|
R2869:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R2869:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R2870:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R2870:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R2871:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R2871:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R2874:Dhx57
|
UTSW |
17 |
80,251,376 (GRCm38) |
missense |
probably benign |
0.22 |
R3819:Dhx57
|
UTSW |
17 |
80,265,074 (GRCm38) |
critical splice donor site |
probably null |
|
R3964:Dhx57
|
UTSW |
17 |
80,265,112 (GRCm38) |
nonsense |
probably null |
|
R4535:Dhx57
|
UTSW |
17 |
80,275,082 (GRCm38) |
missense |
probably damaging |
1.00 |
R4666:Dhx57
|
UTSW |
17 |
80,274,961 (GRCm38) |
missense |
probably damaging |
1.00 |
R4822:Dhx57
|
UTSW |
17 |
80,242,167 (GRCm38) |
splice site |
probably null |
|
R4863:Dhx57
|
UTSW |
17 |
80,253,111 (GRCm38) |
missense |
probably damaging |
1.00 |
R4988:Dhx57
|
UTSW |
17 |
80,251,398 (GRCm38) |
missense |
probably damaging |
1.00 |
R5391:Dhx57
|
UTSW |
17 |
80,275,081 (GRCm38) |
missense |
probably damaging |
1.00 |
R5559:Dhx57
|
UTSW |
17 |
80,254,379 (GRCm38) |
missense |
possibly damaging |
0.53 |
R5644:Dhx57
|
UTSW |
17 |
80,238,873 (GRCm38) |
missense |
possibly damaging |
0.73 |
R5997:Dhx57
|
UTSW |
17 |
80,245,806 (GRCm38) |
missense |
probably damaging |
0.96 |
R6090:Dhx57
|
UTSW |
17 |
80,263,946 (GRCm38) |
critical splice donor site |
probably null |
|
R6177:Dhx57
|
UTSW |
17 |
80,272,966 (GRCm38) |
missense |
possibly damaging |
0.91 |
R6283:Dhx57
|
UTSW |
17 |
80,274,805 (GRCm38) |
missense |
probably benign |
0.00 |
R6802:Dhx57
|
UTSW |
17 |
80,275,321 (GRCm38) |
missense |
probably benign |
0.43 |
R6924:Dhx57
|
UTSW |
17 |
80,238,815 (GRCm38) |
missense |
possibly damaging |
0.71 |
R7151:Dhx57
|
UTSW |
17 |
80,273,047 (GRCm38) |
missense |
probably damaging |
1.00 |
R7386:Dhx57
|
UTSW |
17 |
80,267,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R7393:Dhx57
|
UTSW |
17 |
80,255,571 (GRCm38) |
missense |
probably damaging |
1.00 |
R7451:Dhx57
|
UTSW |
17 |
80,247,113 (GRCm38) |
missense |
probably damaging |
1.00 |
R7602:Dhx57
|
UTSW |
17 |
80,274,861 (GRCm38) |
missense |
probably benign |
0.06 |
R7733:Dhx57
|
UTSW |
17 |
80,265,074 (GRCm38) |
critical splice donor site |
probably null |
|
R7748:Dhx57
|
UTSW |
17 |
80,265,117 (GRCm38) |
missense |
probably damaging |
1.00 |
R7749:Dhx57
|
UTSW |
17 |
80,238,858 (GRCm38) |
missense |
probably benign |
0.04 |
R7772:Dhx57
|
UTSW |
17 |
80,273,078 (GRCm38) |
missense |
possibly damaging |
0.71 |
R8213:Dhx57
|
UTSW |
17 |
80,275,156 (GRCm38) |
missense |
possibly damaging |
0.82 |
R8370:Dhx57
|
UTSW |
17 |
80,245,763 (GRCm38) |
missense |
probably damaging |
1.00 |
R8371:Dhx57
|
UTSW |
17 |
80,275,490 (GRCm38) |
missense |
probably benign |
0.18 |
R8403:Dhx57
|
UTSW |
17 |
80,278,289 (GRCm38) |
missense |
probably damaging |
1.00 |
R8467:Dhx57
|
UTSW |
17 |
80,254,424 (GRCm38) |
missense |
probably damaging |
1.00 |
R8690:Dhx57
|
UTSW |
17 |
80,270,365 (GRCm38) |
critical splice donor site |
probably benign |
|
R9210:Dhx57
|
UTSW |
17 |
80,268,909 (GRCm38) |
missense |
probably damaging |
1.00 |
R9212:Dhx57
|
UTSW |
17 |
80,268,909 (GRCm38) |
missense |
probably damaging |
1.00 |
R9447:Dhx57
|
UTSW |
17 |
80,242,094 (GRCm38) |
missense |
probably damaging |
1.00 |
R9562:Dhx57
|
UTSW |
17 |
80,254,388 (GRCm38) |
missense |
probably damaging |
1.00 |
R9669:Dhx57
|
UTSW |
17 |
80,245,701 (GRCm38) |
missense |
probably benign |
0.09 |
R9717:Dhx57
|
UTSW |
17 |
80,275,018 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1088:Dhx57
|
UTSW |
17 |
80,251,348 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1176:Dhx57
|
UTSW |
17 |
80,245,805 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAAAGGTTGTGTCGTCATCAGC -3'
(R):5'- TCCGCCAGTGTTTCTCAGAG -3'
Sequencing Primer
(F):5'- TGTCGTCATCAGCGTCAAG -3'
(R):5'- CCAGTGTTTCTCAGAGACGTTTG -3'
|
Posted On |
2015-12-29 |