Incidental Mutation 'R8690:Dhx57'
ID |
668348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhx57
|
Ensembl Gene |
ENSMUSG00000035051 |
Gene Name |
DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 |
Synonyms |
|
MMRRC Submission |
068544-MU
|
Accession Numbers |
NCBI RefSeq: NM_001163759.1, NM_198942.2; MGI:2147067
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R8690 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80238304-80290476 bp(-) (GRCm38) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
A to G
at 80270365 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038166]
[ENSMUST00000086555]
|
AlphaFold |
Q6P5D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038166
|
SMART Domains |
Protein: ENSMUSP00000041069 Gene: ENSMUSG00000035051
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
|
SMART Domains |
Protein: ENSMUSP00000083742 Gene: ENSMUSG00000035051
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 |
0.0846  |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (73/73) |
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 |
2700097O09Rik |
T |
A |
12: 55,061,172 (GRCm38) |
T81S |
possibly damaging |
Het |
Ablim2 |
C |
T |
5: 35,873,174 (GRCm38) |
A581V |
possibly damaging |
Het |
Acbd5 |
T |
A |
2: 23,089,698 (GRCm38) |
S210T |
probably benign |
Het |
Adam10 |
T |
A |
9: 70,748,223 (GRCm38) |
F324L |
probably damaging |
Het |
Ak6 |
A |
G |
13: 100,655,349 (GRCm38) |
N100S |
possibly damaging |
Het |
Angptl3 |
G |
T |
4: 99,037,522 (GRCm38) |
V362L |
probably benign |
Het |
Ano9 |
C |
A |
7: 141,104,307 (GRCm38) |
W514L |
probably benign |
Het |
Asb8 |
T |
C |
15: 98,136,227 (GRCm38) |
Y149C |
probably damaging |
Het |
Bcl6b |
C |
A |
11: 70,226,621 (GRCm38) |
A392S |
probably damaging |
Het |
C130026I21Rik |
G |
A |
1: 85,257,449 (GRCm38) |
H130Y |
probably benign |
Het |
Cad |
T |
A |
5: 31,075,156 (GRCm38) |
I1855N |
possibly damaging |
Het |
Calm5 |
G |
A |
13: 3,854,277 (GRCm38) |
G4R |
probably damaging |
Het |
Carm1 |
T |
C |
9: 21,569,512 (GRCm38) |
V94A |
probably damaging |
Het |
Ccnl1 |
A |
T |
3: 65,947,744 (GRCm38) |
S399R |
possibly damaging |
Het |
Cdh17 |
T |
A |
4: 11,783,163 (GRCm38) |
I168N |
probably benign |
Het |
Ces2g |
C |
T |
8: 104,966,973 (GRCm38) |
R429C |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,355,822 (GRCm38) |
|
probably benign |
Het |
Cmtr2 |
T |
A |
8: 110,222,345 (GRCm38) |
M429K |
probably benign |
Het |
Cnga1 |
T |
G |
5: 72,604,492 (GRCm38) |
I560L |
probably benign |
Het |
Col6a5 |
A |
G |
9: 105,882,597 (GRCm38) |
Y1975H |
probably damaging |
Het |
Copb1 |
T |
C |
7: 114,250,228 (GRCm38) |
I47V |
probably benign |
Het |
Crbn |
G |
A |
6: 106,800,049 (GRCm38) |
|
probably benign |
Het |
Ddx41 |
A |
G |
13: 55,533,126 (GRCm38) |
L324P |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,743,430 (GRCm38) |
I475F |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,727,460 (GRCm38) |
K110* |
probably null |
Het |
Dpp7 |
T |
C |
2: 25,355,633 (GRCm38) |
D147G |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,075,824 (GRCm38) |
D3014E |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 77,103,289 (GRCm38) |
F1291I |
probably damaging |
Het |
Endov |
T |
A |
11: 119,491,910 (GRCm38) |
V61D |
probably benign |
Het |
Etv3 |
C |
A |
3: 87,536,479 (GRCm38) |
P457T |
possibly damaging |
Het |
Fam185a |
T |
A |
5: 21,433,768 (GRCm38) |
H199Q |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,967,101 (GRCm38) |
E3361D |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,344,095 (GRCm38) |
|
probably benign |
Het |
Gm17079 |
A |
T |
14: 51,695,330 (GRCm38) |
W37R |
|
Het |
Gpr68 |
T |
C |
12: 100,879,033 (GRCm38) |
H84R |
probably benign |
Het |
Gramd1b |
A |
T |
9: 40,304,378 (GRCm38) |
S725R |
probably damaging |
Het |
Greb1 |
T |
A |
12: 16,696,547 (GRCm38) |
T1241S |
probably benign |
Het |
Hcn4 |
T |
C |
9: 58,843,910 (GRCm38) |
M273T |
probably benign |
Het |
Hdlbp |
A |
G |
1: 93,413,918 (GRCm38) |
V973A |
probably damaging |
Het |
Ighv8-11 |
A |
T |
12: 115,567,544 (GRCm38) |
|
probably benign |
Het |
Itpkb |
A |
T |
1: 180,421,781 (GRCm38) |
Q907L |
probably benign |
Het |
Lmo7 |
T |
A |
14: 101,931,208 (GRCm38) |
N1634K |
unknown |
Het |
Lrrk1 |
C |
A |
7: 66,302,729 (GRCm38) |
L486F |
probably benign |
Het |
Mdfic |
G |
A |
6: 15,799,654 (GRCm38) |
C260Y |
probably damaging |
Het |
Mdh2 |
T |
C |
5: 135,786,028 (GRCm38) |
I140T |
probably benign |
Het |
Myo9a |
T |
C |
9: 59,875,374 (GRCm38) |
V1775A |
probably benign |
Het |
Olfr342 |
T |
C |
2: 36,528,195 (GRCm38) |
V261A |
probably benign |
Het |
Olfr557 |
C |
A |
7: 102,698,821 (GRCm38) |
D194E |
probably damaging |
Het |
Olfr665 |
T |
C |
7: 104,881,555 (GRCm38) |
Y283H |
probably damaging |
Het |
P2rx2 |
C |
T |
5: 110,342,514 (GRCm38) |
V112I |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,837,319 (GRCm38) |
V1038E |
probably benign |
Het |
Rab25 |
T |
A |
3: 88,545,081 (GRCm38) |
R73S |
probably damaging |
Het |
Rab8a |
TA |
TAA |
8: 72,171,286 (GRCm38) |
|
probably null |
Het |
Rnf213 |
T |
C |
11: 119,418,129 (GRCm38) |
Y729H |
|
Het |
Rnf213 |
A |
G |
11: 119,441,212 (GRCm38) |
T2417A |
|
Het |
Rnft2 |
C |
A |
5: 118,228,870 (GRCm38) |
A268S |
probably benign |
Het |
Samhd1 |
T |
C |
2: 157,129,874 (GRCm38) |
D116G |
probably benign |
Het |
Sema6d |
T |
A |
2: 124,665,017 (GRCm38) |
V915E |
probably benign |
Het |
Srcin1 |
C |
A |
11: 97,523,542 (GRCm38) |
R1045L |
probably damaging |
Het |
St18 |
T |
A |
1: 6,802,564 (GRCm38) |
N174K |
probably benign |
Het |
Stac3 |
G |
A |
10: 127,503,625 (GRCm38) |
C130Y |
probably damaging |
Het |
Stum |
G |
C |
1: 180,483,175 (GRCm38) |
P52R |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,615,106 (GRCm38) |
E526K |
possibly damaging |
Het |
Tiam1 |
A |
G |
16: 89,898,012 (GRCm38) |
S186P |
probably damaging |
Het |
Tiparp |
G |
C |
3: 65,553,542 (GRCm38) |
V651L |
probably benign |
Het |
Tmem19 |
C |
T |
10: 115,343,860 (GRCm38) |
G244S |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,873,397 (GRCm38) |
V1658D |
possibly damaging |
Het |
Ttyh3 |
A |
C |
5: 140,627,189 (GRCm38) |
Y453D |
probably damaging |
Het |
Ttyh3 |
G |
T |
5: 140,627,190 (GRCm38) |
S452R |
probably benign |
Het |
Ube2h |
C |
T |
6: 30,262,339 (GRCm38) |
|
probably benign |
Het |
Zbtb4 |
T |
C |
11: 69,776,792 (GRCm38) |
S308P |
probably damaging |
Het |
Zfyve1 |
T |
C |
12: 83,550,907 (GRCm38) |
E672G |
probably damaging |
Het |
Zswim5 |
G |
A |
4: 116,984,805 (GRCm38) |
D861N |
probably damaging |
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 |
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 |
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'- AGGGTGAATTTCTGAGCTCC -3'
(R):5'- AGGCACATTGTATCGTGGGC -3'
Sequencing Primer
(F):5'- TGAATTTCTGAGCTCCATTTTAGG -3'
(R):5'- CACATTGTATCGTGGGCTTTGAAG -3'
|
Posted On |
2021-04-30 |