Incidental Mutation 'R7393:Dhx57'
ID |
573629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhx57
|
Ensembl Gene |
ENSMUSG00000035051 |
Gene Name |
DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 |
Synonyms |
|
MMRRC Submission |
045475-MU
|
Accession Numbers |
NCBI RefSeq: NM_001163759.1, NM_198942.2; MGI:2147067
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R7393 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
80238304-80290476 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80255571 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 876
(N876Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038166]
[ENSMUST00000086555]
|
AlphaFold |
Q6P5D3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038166
AA Change: N823Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041069 Gene: ENSMUSG00000035051 AA Change: N823Y
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: N876Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083742 Gene: ENSMUSG00000035051 AA Change: N876Y
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(25) : Gene trapped(25)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010107E04Rik |
A |
G |
12: 111,963,277 (GRCm38) |
V26A |
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,299,867 (GRCm38) |
D282N |
probably damaging |
Het |
Abi2 |
T |
C |
1: 60,434,382 (GRCm38) |
M86T |
possibly damaging |
Het |
Adam26a |
T |
C |
8: 43,569,688 (GRCm38) |
N255S |
probably benign |
Het |
Adam4 |
G |
A |
12: 81,419,660 (GRCm38) |
S729L |
probably benign |
Het |
Adcy1 |
G |
T |
11: 7,137,381 (GRCm38) |
W418C |
probably damaging |
Het |
Add2 |
T |
A |
6: 86,098,647 (GRCm38) |
Y259* |
probably null |
Het |
Agl |
A |
T |
3: 116,791,156 (GRCm38) |
C172S |
probably benign |
Het |
Ankfy1 |
A |
G |
11: 72,738,308 (GRCm38) |
T319A |
possibly damaging |
Het |
Armc8 |
A |
T |
9: 99,483,999 (GRCm38) |
C621S |
possibly damaging |
Het |
Bbc3 |
A |
G |
7: 16,313,789 (GRCm38) |
D146G |
probably benign |
Het |
Btnl10 |
T |
C |
11: 58,923,706 (GRCm38) |
L404P |
probably damaging |
Het |
Cbl |
A |
G |
9: 44,154,188 (GRCm38) |
|
probably null |
Het |
Ccdc170 |
T |
A |
10: 4,514,314 (GRCm38) |
|
probably null |
Het |
Ccdc91 |
T |
A |
6: 147,534,029 (GRCm38) |
V37E |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,210,417 (GRCm38) |
T343K |
probably benign |
Het |
Chfr |
T |
A |
5: 110,152,358 (GRCm38) |
F323I |
probably damaging |
Het |
Clcnkb |
T |
A |
4: 141,409,445 (GRCm38) |
M370L |
probably benign |
Het |
Col11a1 |
A |
G |
3: 114,097,106 (GRCm38) |
D364G |
unknown |
Het |
Ctbp2 |
A |
G |
7: 132,988,292 (GRCm38) |
I381T |
probably benign |
Het |
Cyp4a29 |
A |
C |
4: 115,242,196 (GRCm38) |
Y38S |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,230,353 (GRCm38) |
D382G |
probably benign |
Het |
Dsel |
C |
T |
1: 111,861,573 (GRCm38) |
G411S |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,085,264 (GRCm38) |
G356S |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,216,624 (GRCm38) |
D262G |
probably benign |
Het |
Fnbp4 |
C |
A |
2: 90,779,316 (GRCm38) |
Q1035K |
probably damaging |
Het |
Gbp11 |
T |
A |
5: 105,327,577 (GRCm38) |
N302Y |
possibly damaging |
Het |
Gm11554 |
T |
A |
11: 99,803,872 (GRCm38) |
T172S |
unknown |
Het |
Hamp2 |
A |
T |
7: 30,922,605 (GRCm38) |
M53K |
possibly damaging |
Het |
Kcnj1 |
A |
G |
9: 32,397,018 (GRCm38) |
D246G |
probably damaging |
Het |
Kctd20 |
T |
C |
17: 28,963,338 (GRCm38) |
F209L |
probably damaging |
Het |
Klra2 |
T |
C |
6: 131,230,202 (GRCm38) |
Y148C |
probably damaging |
Het |
Krtap15 |
T |
C |
16: 88,829,097 (GRCm38) |
|
probably null |
Het |
Mrps23 |
T |
C |
11: 88,204,458 (GRCm38) |
L6P |
probably damaging |
Het |
Ms4a6d |
G |
A |
19: 11,590,073 (GRCm38) |
Q155* |
probably null |
Het |
Myo7a |
G |
A |
7: 98,063,699 (GRCm38) |
R1690C |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,393,492 (GRCm38) |
S1183P |
probably damaging |
Het |
Ndufaf4 |
T |
A |
4: 24,903,177 (GRCm38) |
M122K |
probably benign |
Het |
Nop2 |
C |
A |
6: 125,133,546 (GRCm38) |
S45* |
probably null |
Het |
Nop56 |
T |
A |
2: 130,274,638 (GRCm38) |
L3Q |
probably benign |
Het |
Nrp2 |
T |
C |
1: 62,745,424 (GRCm38) |
I244T |
probably damaging |
Het |
Olfr1426 |
T |
A |
19: 12,088,628 (GRCm38) |
T55S |
probably benign |
Het |
Olfr620 |
A |
G |
7: 103,611,991 (GRCm38) |
S121P |
possibly damaging |
Het |
Otof |
T |
C |
5: 30,370,270 (GRCm38) |
D1941G |
probably benign |
Het |
Pcyox1l |
T |
C |
18: 61,697,641 (GRCm38) |
K387E |
probably benign |
Het |
Plcg2 |
A |
G |
8: 117,579,825 (GRCm38) |
Y306C |
possibly damaging |
Het |
Ppp1r13b |
G |
A |
12: 111,838,754 (GRCm38) |
P333S |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,717,030 (GRCm38) |
D344G |
probably damaging |
Het |
Reln |
A |
T |
5: 21,976,351 (GRCm38) |
N1810K |
probably damaging |
Het |
Rfesd |
G |
T |
13: 76,003,030 (GRCm38) |
A90E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,917 (GRCm38) |
|
probably benign |
Het |
Scg2 |
T |
C |
1: 79,435,231 (GRCm38) |
K552E |
probably damaging |
Het |
Sdccag8 |
A |
G |
1: 176,840,306 (GRCm38) |
I190V |
probably benign |
Het |
Sele |
C |
A |
1: 164,053,923 (GRCm38) |
T533K |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,144,448 (GRCm38) |
H339Q |
possibly damaging |
Het |
Slc6a19 |
A |
G |
13: 73,692,974 (GRCm38) |
S106P |
probably benign |
Het |
Spidr |
C |
T |
16: 16,146,831 (GRCm38) |
|
probably benign |
Het |
Stk36 |
A |
T |
1: 74,611,193 (GRCm38) |
K295* |
probably null |
Het |
Synj1 |
A |
T |
16: 90,951,999 (GRCm38) |
D1056E |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 85,062,866 (GRCm38) |
S1046P |
probably benign |
Het |
Ttc27 |
T |
G |
17: 74,770,264 (GRCm38) |
F385V |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,944,345 (GRCm38) |
G2164W |
unknown |
Het |
Ubap1 |
T |
A |
4: 41,379,764 (GRCm38) |
L326* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,426,785 (GRCm38) |
N812S |
probably damaging |
Het |
Vmn1r160 |
A |
G |
7: 22,871,353 (GRCm38) |
T44A |
possibly damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,265,589 (GRCm38) |
S139N |
possibly damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,386,125 (GRCm38) |
I137M |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 85,155,878 (GRCm38) |
W9R |
probably null |
Het |
Zfp101 |
T |
C |
17: 33,386,700 (GRCm38) |
N45D |
possibly 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 |
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'- AGAGGTCTCCCCTTTCTAGC -3'
(R):5'- TTGGAAAGGGGTAAGACTATTTTGTCC -3'
Sequencing Primer
(F):5'- CTGGCATAAACAATCGCATGCTTG -3'
(R):5'- GCTGATAGTGAAAAGTTACCAGATTG -3'
|
Posted On |
2019-09-13 |