Incidental Mutation 'R7772:Dhx57'
ID |
598675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhx57
|
Ensembl Gene |
ENSMUSG00000035051 |
Gene Name |
DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 |
Synonyms |
|
MMRRC Submission |
045828-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
R7772 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80238304-80290476 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 80273078 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 482
(D482N)
|
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: D429N
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000041069 Gene: ENSMUSG00000035051 AA Change: D429N
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 |
possibly damaging
Transcript: ENSMUST00000086555
AA Change: D482N
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000083742 Gene: ENSMUSG00000035051 AA Change: D482N
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
All alleles(25) : Gene trapped(25)
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
T |
A |
11: 3,889,784 (GRCm38) |
|
probably null |
Het |
Adora3 |
T |
C |
3: 105,907,723 (GRCm38) |
V263A |
probably benign |
Het |
Adprhl1 |
C |
T |
8: 13,248,682 (GRCm38) |
V83I |
probably damaging |
Het |
Arfgef1 |
A |
G |
1: 10,157,010 (GRCm38) |
V1368A |
possibly damaging |
Het |
Arid4a |
A |
T |
12: 71,061,589 (GRCm38) |
N56I |
possibly damaging |
Het |
Art3 |
A |
T |
5: 92,403,613 (GRCm38) |
Y277F |
probably damaging |
Het |
Atp2a1 |
A |
T |
7: 126,448,535 (GRCm38) |
|
probably null |
Het |
Banf1 |
T |
C |
19: 5,365,122 (GRCm38) |
K54E |
possibly damaging |
Het |
Bckdk |
A |
G |
7: 127,905,901 (GRCm38) |
Y151C |
probably damaging |
Het |
C1qtnf3 |
C |
A |
15: 10,958,044 (GRCm38) |
P58T |
possibly damaging |
Het |
Cadps2 |
T |
C |
6: 23,390,446 (GRCm38) |
R744G |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,189,109 (GRCm38) |
D118G |
probably damaging |
Het |
Cnot9 |
G |
A |
1: 74,526,992 (GRCm38) |
V181I |
probably damaging |
Het |
Cobl |
C |
T |
11: 12,254,488 (GRCm38) |
G738D |
probably benign |
Het |
Col18a1 |
T |
A |
10: 77,068,386 (GRCm38) |
|
probably null |
Het |
Crnkl1 |
A |
G |
2: 145,930,644 (GRCm38) |
V171A |
probably benign |
Het |
Dpysl2 |
A |
T |
14: 66,828,976 (GRCm38) |
|
probably null |
Het |
Drd3 |
G |
T |
16: 43,762,395 (GRCm38) |
A52S |
probably benign |
Het |
Dst |
T |
C |
1: 34,181,388 (GRCm38) |
V2091A |
possibly damaging |
Het |
Evpl |
T |
C |
11: 116,221,435 (GRCm38) |
T1810A |
probably benign |
Het |
Fbxo2 |
T |
A |
4: 148,164,326 (GRCm38) |
W92R |
probably damaging |
Het |
Gas2l2 |
T |
A |
11: 83,429,277 (GRCm38) |
D51V |
possibly damaging |
Het |
Gm11232 |
A |
T |
4: 71,756,581 (GRCm38) |
V228E |
possibly damaging |
Het |
Gm14305 |
C |
T |
2: 176,720,971 (GRCm38) |
Q219* |
probably null |
Het |
Gpr137b |
T |
C |
13: 13,359,406 (GRCm38) |
Y355C |
|
Het |
Gpr39 |
G |
T |
1: 125,677,597 (GRCm38) |
M87I |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,417,641 (GRCm38) |
M1089T |
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,481,074 (GRCm38) |
M452K |
|
Het |
Ints8 |
A |
T |
4: 11,227,190 (GRCm38) |
I561N |
probably damaging |
Het |
Itgb2 |
A |
T |
10: 77,561,112 (GRCm38) |
K660N |
probably benign |
Het |
Jun |
A |
C |
4: 95,050,844 (GRCm38) |
V143G |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,031,582 (GRCm38) |
M2076T |
probably benign |
Het |
Krt10 |
G |
T |
11: 99,389,087 (GRCm38) |
S82R |
unknown |
Het |
Lipm |
T |
A |
19: 34,117,891 (GRCm38) |
H295Q |
probably damaging |
Het |
Mybpc2 |
A |
C |
7: 44,515,924 (GRCm38) |
|
probably null |
Het |
Nedd4 |
T |
C |
9: 72,677,326 (GRCm38) |
V103A |
possibly damaging |
Het |
Nol10 |
T |
C |
12: 17,348,585 (GRCm38) |
I11T |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,159,926 (GRCm38) |
S758G |
probably damaging |
Het |
Or13d1 |
T |
A |
4: 52,970,713 (GRCm38) |
C31S |
probably damaging |
Het |
Or52r1c |
T |
G |
7: 103,086,181 (GRCm38) |
I216S |
probably benign |
Het |
Or8d4 |
T |
C |
9: 40,127,365 (GRCm38) |
I199V |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 109,066,187 (GRCm38) |
H425R |
probably damaging |
Het |
Parp1 |
G |
T |
1: 180,589,398 (GRCm38) |
R582S |
possibly damaging |
Het |
Piwil1 |
A |
T |
5: 128,739,463 (GRCm38) |
R36S |
probably benign |
Het |
Pjvk |
T |
C |
2: 76,657,533 (GRCm38) |
|
probably null |
Het |
Plekha6 |
G |
T |
1: 133,170,022 (GRCm38) |
E31D |
possibly damaging |
Het |
Polr1b |
C |
A |
2: 129,125,544 (GRCm38) |
F952L |
probably damaging |
Het |
Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,790,701 (GRCm38) |
|
probably benign |
Het |
Psmc6 |
T |
A |
14: 45,343,650 (GRCm38) |
I301N |
probably damaging |
Het |
Rfpl4 |
C |
A |
7: 5,115,544 (GRCm38) |
S9I |
probably benign |
Het |
Rnf14 |
G |
T |
18: 38,309,576 (GRCm38) |
C310F |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,477,687 (GRCm38) |
F845L |
probably benign |
Het |
Robo2 |
T |
C |
16: 73,961,889 (GRCm38) |
I665V |
probably benign |
Het |
Rtl1 |
T |
A |
12: 109,593,185 (GRCm38) |
H740L |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,751,011 (GRCm38) |
S1280P |
probably benign |
Het |
Slc12a8 |
G |
A |
16: 33,550,965 (GRCm38) |
R126H |
probably damaging |
Het |
Slc9a1 |
T |
C |
4: 133,411,965 (GRCm38) |
F165L |
probably damaging |
Het |
Snx19 |
T |
C |
9: 30,428,925 (GRCm38) |
I453T |
probably damaging |
Het |
Spag17 |
T |
C |
3: 100,080,118 (GRCm38) |
Y1575H |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,704,481 (GRCm38) |
I415M |
probably damaging |
Het |
Ssx2ip |
T |
G |
3: 146,433,130 (GRCm38) |
I459S |
probably damaging |
Het |
Stfa1 |
A |
G |
16: 36,277,001 (GRCm38) |
|
probably null |
Het |
Tmem156 |
A |
T |
5: 65,080,174 (GRCm38) |
S48T |
probably damaging |
Het |
Tmx3 |
T |
A |
18: 90,527,794 (GRCm38) |
|
probably null |
Het |
Unc93a |
A |
T |
17: 13,109,752 (GRCm38) |
F405I |
possibly damaging |
Het |
Vmn1r209 |
T |
A |
13: 22,806,494 (GRCm38) |
I9F |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,313,220 (GRCm38) |
D462G |
probably damaging |
Het |
Wdr90 |
T |
A |
17: 25,861,491 (GRCm38) |
|
probably benign |
Het |
Zfp551 |
T |
C |
7: 12,418,608 (GRCm38) |
D66G |
probably damaging |
Het |
Znrf4 |
A |
C |
17: 56,512,247 (GRCm38) |
V20G |
possibly damaging |
Het |
Zscan4d |
T |
C |
7: 11,162,843 (GRCm38) |
E200G |
probably benign |
Het |
Zup1 |
A |
T |
10: 33,921,702 (GRCm38) |
|
probably null |
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 |
R4788:Dhx57
|
UTSW |
17 |
80,275,331 (GRCm38) |
missense |
probably benign |
0.01 |
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 |
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'- GGAGTTTTAACGTTCAGAGCAAAC -3'
(R):5'- CCCTGTTTCAGAGCAGTATGG -3'
Sequencing Primer
(F):5'- AGTAGGCTCCAGACCTGAG -3'
(R):5'- CTGTTTCAGAGCAGTATGGAAACAAC -3'
|
Posted On |
2019-11-26 |