Incidental Mutation 'R6647:Ddx31'
| ID |
526105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx31
|
| Ensembl Gene |
ENSMUSG00000026806 |
| Gene Name |
DEAD/H box helicase 31 |
| Synonyms |
5830444G11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31 |
| MMRRC Submission |
044768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.855)
|
| Stock # |
R6647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28730418-28795583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28765750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 483
(T483S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113853]
|
| AlphaFold |
Q6NZQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113853
AA Change: T483S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: T483S
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
123 |
332 |
2.28e-48 |
SMART |
|
HELICc
|
408 |
487 |
4.02e-26 |
SMART |
|
DUF4217
|
556 |
621 |
6.21e-22 |
SMART |
|
| Meta Mutation Damage Score |
0.7370 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (53/54) |
| 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,544,060 (GRCm39) |
T1416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,494 (GRCm39) |
S103P |
probably damaging |
Het |
| Ces1h |
A |
C |
8: 94,078,654 (GRCm39) |
*563G |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,669,086 (GRCm39) |
A339E |
probably benign |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,324 (GRCm39) |
H231R |
possibly damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,201 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,403,633 (GRCm39) |
A3453T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,115,743 (GRCm39) |
F1500I |
probably damaging |
Het |
| Eprs1 |
C |
T |
1: 185,146,621 (GRCm39) |
A1217V |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,604,335 (GRCm39) |
Y481C |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,420,670 (GRCm39) |
N635K |
unknown |
Het |
| Fras1 |
A |
G |
5: 96,883,061 (GRCm39) |
D2531G |
probably damaging |
Het |
| Frat1 |
C |
T |
19: 41,819,264 (GRCm39) |
Q220* |
probably null |
Het |
| Gcc2 |
T |
A |
10: 58,123,103 (GRCm39) |
|
probably null |
Het |
| Gm3285 |
T |
C |
10: 77,698,447 (GRCm39) |
|
probably benign |
Het |
| Gm9857 |
T |
C |
3: 108,847,379 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
A |
6: 135,710,108 (GRCm39) |
W1146L |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,919,948 (GRCm39) |
L33I |
probably benign |
Het |
| Ift81 |
T |
A |
5: 122,748,229 (GRCm39) |
R54* |
probably null |
Het |
| Ints12 |
G |
A |
3: 132,802,639 (GRCm39) |
R41Q |
possibly damaging |
Het |
| Katnal2 |
C |
T |
18: 77,067,733 (GRCm39) |
E403K |
probably benign |
Het |
| Kcnk1 |
A |
G |
8: 126,722,199 (GRCm39) |
M1V |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,389,422 (GRCm39) |
T950A |
probably benign |
Het |
| Kdr |
G |
A |
5: 76,113,549 (GRCm39) |
A773V |
probably damaging |
Het |
| Lats1 |
G |
C |
10: 7,573,271 (GRCm39) |
M118I |
possibly damaging |
Het |
| Mug1 |
A |
G |
6: 121,817,200 (GRCm39) |
I90V |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,852,484 (GRCm39) |
D1064G |
probably benign |
Het |
| Nkx2-4 |
A |
T |
2: 146,926,187 (GRCm39) |
I225N |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,020,740 (GRCm39) |
D409G |
probably benign |
Het |
| Ogfod2 |
G |
C |
5: 124,252,866 (GRCm39) |
R292P |
possibly damaging |
Het |
| Oprk1 |
C |
T |
1: 5,672,507 (GRCm39) |
P215S |
probably damaging |
Het |
| Or5d36 |
A |
T |
2: 87,901,053 (GRCm39) |
F224L |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,169,033 (GRCm39) |
C94* |
probably null |
Het |
| Or7g27 |
T |
A |
9: 19,249,925 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,906,210 (GRCm39) |
I174V |
possibly damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,225 (GRCm39) |
K395R |
possibly damaging |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Pycard |
T |
C |
7: 127,592,741 (GRCm39) |
T29A |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,754 (GRCm39) |
A452V |
probably benign |
Het |
| Rasgrf1 |
C |
G |
9: 89,892,516 (GRCm39) |
T1072S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,956 (GRCm39) |
R707* |
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,993,618 (GRCm39) |
I767T |
probably damaging |
Het |
| Setd7 |
A |
G |
3: 51,450,183 (GRCm39) |
V81A |
probably benign |
Het |
| Shisal2a |
A |
G |
4: 108,225,224 (GRCm39) |
S113P |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,800 (GRCm39) |
S685P |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,372 (GRCm39) |
E904G |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,245,526 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,721,659 (GRCm39) |
N1174Y |
probably damaging |
Het |
| Tas2r138 |
G |
T |
6: 40,589,733 (GRCm39) |
T171K |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,893,999 (GRCm39) |
D77G |
possibly damaging |
Het |
| Vav3 |
A |
T |
3: 109,434,732 (GRCm39) |
H421L |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,841 (GRCm39) |
L215P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,785 (GRCm39) |
S386R |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,183,089 (GRCm39) |
R233S |
probably benign |
Het |
|
| Other mutations in Ddx31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01664:Ddx31
|
APN |
2 |
28,765,847 (GRCm39) |
splice site |
probably benign |
|
|
IGL01918:Ddx31
|
APN |
2 |
28,764,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Ddx31
|
APN |
2 |
28,749,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Ddx31
|
APN |
2 |
28,765,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Ddx31
|
APN |
2 |
28,749,035 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0241:Ddx31
|
UTSW |
2 |
28,738,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Ddx31
|
UTSW |
2 |
28,738,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Ddx31
|
UTSW |
2 |
28,747,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:Ddx31
|
UTSW |
2 |
28,748,789 (GRCm39) |
missense |
probably null |
1.00 |
|
R0729:Ddx31
|
UTSW |
2 |
28,764,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1227:Ddx31
|
UTSW |
2 |
28,747,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Ddx31
|
UTSW |
2 |
28,771,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1608:Ddx31
|
UTSW |
2 |
28,749,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1646:Ddx31
|
UTSW |
2 |
28,782,532 (GRCm39) |
missense |
probably benign |
|
|
R1674:Ddx31
|
UTSW |
2 |
28,748,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Ddx31
|
UTSW |
2 |
28,782,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Ddx31
|
UTSW |
2 |
28,749,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4133:Ddx31
|
UTSW |
2 |
28,748,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Ddx31
|
UTSW |
2 |
28,794,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4972:Ddx31
|
UTSW |
2 |
28,750,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Ddx31
|
UTSW |
2 |
28,736,042 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5358:Ddx31
|
UTSW |
2 |
28,753,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5450:Ddx31
|
UTSW |
2 |
28,776,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5945:Ddx31
|
UTSW |
2 |
28,749,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Ddx31
|
UTSW |
2 |
28,764,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Ddx31
|
UTSW |
2 |
28,734,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6245:Ddx31
|
UTSW |
2 |
28,734,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6463:Ddx31
|
UTSW |
2 |
28,737,525 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6783:Ddx31
|
UTSW |
2 |
28,764,188 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6917:Ddx31
|
UTSW |
2 |
28,782,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Ddx31
|
UTSW |
2 |
28,738,318 (GRCm39) |
missense |
probably benign |
|
|
R7819:Ddx31
|
UTSW |
2 |
28,782,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8812:Ddx31
|
UTSW |
2 |
28,730,816 (GRCm39) |
unclassified |
probably benign |
|
|
R9122:Ddx31
|
UTSW |
2 |
28,748,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9326:Ddx31
|
UTSW |
2 |
28,749,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Ddx31
|
UTSW |
2 |
28,750,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCAGTGAAGCCAACAGC -3'
(R):5'- AAGGGTTAATGGCTCTTCAGC -3'
Sequencing Primer
(F):5'- GCCAACAGCTTCAGGTTGATTAATG -3'
(R):5'- GCTCTTCAGCAGCTTACAAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation