Incidental Mutation 'R5956:Dhx16'
| ID |
471210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx16
|
| Ensembl Gene |
ENSMUSG00000024422 |
| Gene Name |
DEAH-box helicase 16 |
| Synonyms |
DBP2, DEAH (Asp-Glu-Ala-His) box polypeptide 16, Ddx16, 2410006N22Rik |
| MMRRC Submission |
044144-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5956 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36190711-36203562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36193762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 319
(E319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025292]
[ENSMUST00000174366]
|
| AlphaFold |
G3X8X0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025292
AA Change: E319G
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: E319G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
55 |
310 |
6e-57 |
BLAST |
|
DEXDc
|
400 |
585 |
7.26e-33 |
SMART |
|
HELICc
|
636 |
733 |
1.7e-15 |
SMART |
|
HA2
|
794 |
885 |
2.24e-31 |
SMART |
|
Pfam:OB_NTP_bind
|
901 |
1018 |
3.6e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174366
AA Change: E319G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422
AA Change: E319G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
55 |
310 |
9e-58 |
BLAST |
|
DEXDc
|
400 |
585 |
7.26e-33 |
SMART |
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,203,893 (GRCm39) |
I398K |
possibly damaging |
Het |
| Acad9 |
A |
G |
3: 36,129,323 (GRCm39) |
|
probably benign |
Het |
| Acsm2 |
T |
C |
7: 119,153,704 (GRCm39) |
S5P |
unknown |
Het |
| Akp3 |
T |
C |
1: 87,054,667 (GRCm39) |
I334T |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,357,311 (GRCm39) |
R176H |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,736,337 (GRCm39) |
|
probably benign |
Het |
| Cav1 |
C |
A |
6: 17,307,918 (GRCm39) |
N23K |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,112,120 (GRCm39) |
V151A |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,481,606 (GRCm39) |
|
probably null |
Het |
| Crim1 |
T |
A |
17: 78,623,146 (GRCm39) |
V448E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,655,278 (GRCm39) |
E8G |
possibly damaging |
Het |
| Ddx31 |
A |
T |
2: 28,764,185 (GRCm39) |
I464F |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,764,432 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,301,107 (GRCm39) |
D37G |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,298,228 (GRCm39) |
R444G |
probably damaging |
Het |
| Exoc2 |
C |
A |
13: 31,004,606 (GRCm39) |
C859F |
probably benign |
Het |
| Gbx2 |
T |
C |
1: 89,860,908 (GRCm39) |
|
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,285 (GRCm39) |
A9T |
probably benign |
Het |
| Gpr141b |
T |
G |
13: 19,913,300 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,654,129 (GRCm39) |
V607A |
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,200,677 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-74 |
C |
A |
12: 115,766,455 (GRCm39) |
W55L |
probably damaging |
Het |
| Irx4 |
C |
A |
13: 73,415,626 (GRCm39) |
Y138* |
probably null |
Het |
| Itpr1 |
C |
A |
6: 108,482,988 (GRCm39) |
T2352K |
probably benign |
Het |
| Kcnk3 |
T |
G |
5: 30,745,854 (GRCm39) |
V65G |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,908,923 (GRCm39) |
E130G |
probably benign |
Het |
| Mgat5 |
C |
A |
1: 127,310,676 (GRCm39) |
R197S |
probably benign |
Het |
| Mpg |
T |
C |
11: 32,177,951 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,417,910 (GRCm39) |
C3619R |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,764,583 (GRCm39) |
V1321I |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,815,391 (GRCm39) |
T658A |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,411,217 (GRCm39) |
F1423I |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or9g3 |
A |
G |
2: 85,584,183 (GRCm39) |
|
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,379,856 (GRCm39) |
R149G |
probably damaging |
Het |
| Pacc1 |
A |
G |
1: 191,080,568 (GRCm39) |
S263G |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,777,300 (GRCm39) |
W281R |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,485,153 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,334 (GRCm39) |
N889S |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,460,626 (GRCm39) |
S1084P |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Siglece |
T |
C |
7: 43,308,760 (GRCm39) |
T198A |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,650,942 (GRCm39) |
M1678L |
probably benign |
Het |
| Taf8 |
A |
T |
17: 47,809,467 (GRCm39) |
M98K |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,870,138 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
T |
5: 144,744,201 (GRCm39) |
|
silent |
Het |
| Ttn |
G |
T |
2: 76,775,914 (GRCm39) |
N1709K |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,926,768 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
T |
C |
5: 29,804,054 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,567,123 (GRCm39) |
S910P |
probably damaging |
Het |
| Usp30 |
G |
A |
5: 114,257,682 (GRCm39) |
R280Q |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,530,457 (GRCm39) |
S142G |
possibly damaging |
Het |
| Wdr95 |
T |
G |
5: 149,517,947 (GRCm39) |
C360G |
probably benign |
Het |
| Zbtb4 |
A |
G |
11: 69,669,040 (GRCm39) |
I588V |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,310,604 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,697,288 (GRCm39) |
N69K |
probably damaging |
Het |
|
| Other mutations in Dhx16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Dhx16
|
APN |
17 |
36,198,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01533:Dhx16
|
APN |
17 |
36,192,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Dhx16
|
APN |
17 |
36,199,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01946:Dhx16
|
APN |
17 |
36,196,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02170:Dhx16
|
APN |
17 |
36,200,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02327:Dhx16
|
APN |
17 |
36,194,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02334:Dhx16
|
APN |
17 |
36,194,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Dhx16
|
APN |
17 |
36,203,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Dhx16
|
UTSW |
17 |
36,193,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0410:Dhx16
|
UTSW |
17 |
36,201,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Dhx16
|
UTSW |
17 |
36,192,551 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0835:Dhx16
|
UTSW |
17 |
36,192,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Dhx16
|
UTSW |
17 |
36,194,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Dhx16
|
UTSW |
17 |
36,201,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Dhx16
|
UTSW |
17 |
36,196,511 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1905:Dhx16
|
UTSW |
17 |
36,199,247 (GRCm39) |
missense |
probably benign |
|
|
R2233:Dhx16
|
UTSW |
17 |
36,198,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Dhx16
|
UTSW |
17 |
36,198,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Dhx16
|
UTSW |
17 |
36,196,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4648:Dhx16
|
UTSW |
17 |
36,196,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4665:Dhx16
|
UTSW |
17 |
36,190,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Dhx16
|
UTSW |
17 |
36,196,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4862:Dhx16
|
UTSW |
17 |
36,194,154 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5089:Dhx16
|
UTSW |
17 |
36,194,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Dhx16
|
UTSW |
17 |
36,194,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Dhx16
|
UTSW |
17 |
36,201,978 (GRCm39) |
nonsense |
probably null |
|
|
R5748:Dhx16
|
UTSW |
17 |
36,194,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Dhx16
|
UTSW |
17 |
36,192,580 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6001:Dhx16
|
UTSW |
17 |
36,194,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Dhx16
|
UTSW |
17 |
36,193,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6420:Dhx16
|
UTSW |
17 |
36,193,906 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6467:Dhx16
|
UTSW |
17 |
36,197,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Dhx16
|
UTSW |
17 |
36,197,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Dhx16
|
UTSW |
17 |
36,199,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Dhx16
|
UTSW |
17 |
36,201,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Dhx16
|
UTSW |
17 |
36,192,568 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8508:Dhx16
|
UTSW |
17 |
36,196,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Dhx16
|
UTSW |
17 |
36,192,183 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8733:Dhx16
|
UTSW |
17 |
36,192,267 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8831:Dhx16
|
UTSW |
17 |
36,199,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Dhx16
|
UTSW |
17 |
36,193,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9194:Dhx16
|
UTSW |
17 |
36,200,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9350:Dhx16
|
UTSW |
17 |
36,200,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Dhx16
|
UTSW |
17 |
36,193,413 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGCCACTAATCGCTAC -3'
(R):5'- AGTCAGCATCCCAGACTCTTTC -3'
Sequencing Primer
(F):5'- ATGCCCAAGGAGACCCGAG -3'
(R):5'- CACCTCGTCACCCTGGAGTTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation