Incidental Mutation 'R4235:Ddx1'
| ID |
321079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx1
|
| Ensembl Gene |
ENSMUSG00000037149 |
| Gene Name |
DEAD box helicase 1 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 |
| MMRRC Submission |
041052-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4235 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
13269308-13299175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13273858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 590
(V590I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071103]
|
| AlphaFold |
Q91VR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071103
AA Change: V590I
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: V590I
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
21 |
444 |
1.95e-47 |
SMART |
|
SPRY
|
130 |
246 |
1.91e-34 |
SMART |
|
HELICc
|
520 |
610 |
8.28e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221028
|
| Meta Mutation Damage Score |
0.1872 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (68/70) |
| 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 of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| 5730596B20Rik |
G |
T |
6: 52,155,941 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,751 (GRCm39) |
V231A |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,978,798 (GRCm39) |
S839P |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,872,857 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Cc2d1b |
A |
T |
4: 108,482,549 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,751,057 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
A |
1: 87,859,704 (GRCm39) |
L774* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,818,231 (GRCm39) |
N205I |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,073 (GRCm39) |
D1953E |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,254,693 (GRCm39) |
I269K |
probably benign |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Has1 |
G |
T |
17: 18,070,298 (GRCm39) |
R208S |
possibly damaging |
Het |
| Hecw1 |
C |
G |
13: 14,491,724 (GRCm39) |
A423P |
probably benign |
Het |
| Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
| Ifi208 |
T |
G |
1: 173,510,477 (GRCm39) |
S211A |
probably benign |
Het |
| Ighv6-3 |
T |
C |
12: 114,355,494 (GRCm39) |
E65G |
probably damaging |
Het |
| Igkv9-120 |
A |
T |
6: 68,027,317 (GRCm39) |
D77V |
probably benign |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,372,549 (GRCm39) |
I932T |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,148,694 (GRCm39) |
T279A |
possibly damaging |
Het |
| Lamp1 |
T |
C |
8: 13,217,192 (GRCm39) |
V67A |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,699,332 (GRCm39) |
I142V |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,351,381 (GRCm39) |
N182D |
possibly damaging |
Het |
| Mcpt1 |
G |
A |
14: 56,256,017 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mfsd10 |
G |
T |
5: 34,792,969 (GRCm39) |
T44N |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,541,549 (GRCm39) |
S218P |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Neil2 |
A |
C |
14: 63,429,290 (GRCm39) |
M1R |
probably null |
Het |
| Nelfcd |
T |
C |
2: 174,268,841 (GRCm39) |
F587L |
probably damaging |
Het |
| Nfil3 |
T |
C |
13: 53,122,835 (GRCm39) |
D23G |
probably benign |
Het |
| Nit2 |
T |
C |
16: 56,977,523 (GRCm39) |
K169R |
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,267 (GRCm39) |
S3P |
probably benign |
Het |
| Ogt |
A |
G |
X: 100,711,131 (GRCm39) |
N434D |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,734,994 (GRCm39) |
S24T |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pramel25 |
G |
C |
4: 143,521,344 (GRCm39) |
C320S |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,226 (GRCm39) |
|
probably null |
Het |
| Sobp |
G |
A |
10: 42,898,896 (GRCm39) |
H230Y |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,916,600 (GRCm39) |
E2096G |
probably damaging |
Het |
| Tie1 |
G |
T |
4: 118,335,602 (GRCm39) |
S797* |
probably null |
Het |
| Tmem266 |
T |
C |
9: 55,325,391 (GRCm39) |
I186T |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
| Tnfaip6 |
T |
C |
2: 51,940,876 (GRCm39) |
F139S |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,903 (GRCm39) |
S898P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,675 (GRCm39) |
D911G |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,647 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,846,729 (GRCm39) |
Q1651* |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,438,234 (GRCm39) |
I1943F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,709,255 (GRCm39) |
S1334T |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,101 (GRCm39) |
V47E |
probably benign |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,624 (GRCm39) |
M67K |
possibly damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,070,500 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
C |
10: 115,254,704 (GRCm39) |
Y1433H |
probably benign |
Het |
|
| Other mutations in Ddx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Ddx1
|
APN |
12 |
13,295,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00725:Ddx1
|
APN |
12 |
13,277,460 (GRCm39) |
splice site |
probably benign |
|
|
IGL00958:Ddx1
|
APN |
12 |
13,290,849 (GRCm39) |
splice site |
probably null |
|
|
IGL01786:Ddx1
|
APN |
12 |
13,279,137 (GRCm39) |
missense |
probably benign |
|
|
IGL02832:Ddx1
|
APN |
12 |
13,277,318 (GRCm39) |
nonsense |
probably null |
|
|
IGL02983:Ddx1
|
APN |
12 |
13,273,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Ddx1
|
UTSW |
12 |
13,273,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0931:Ddx1
|
UTSW |
12 |
13,287,818 (GRCm39) |
splice site |
probably benign |
|
|
R1434:Ddx1
|
UTSW |
12 |
13,287,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1558:Ddx1
|
UTSW |
12 |
13,289,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Ddx1
|
UTSW |
12 |
13,294,967 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1854:Ddx1
|
UTSW |
12 |
13,279,332 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2910:Ddx1
|
UTSW |
12 |
13,281,441 (GRCm39) |
splice site |
probably null |
|
|
R2911:Ddx1
|
UTSW |
12 |
13,281,441 (GRCm39) |
splice site |
probably null |
|
|
R4181:Ddx1
|
UTSW |
12 |
13,281,504 (GRCm39) |
nonsense |
probably null |
|
|
R4182:Ddx1
|
UTSW |
12 |
13,281,504 (GRCm39) |
nonsense |
probably null |
|
|
R4183:Ddx1
|
UTSW |
12 |
13,281,504 (GRCm39) |
nonsense |
probably null |
|
|
R4231:Ddx1
|
UTSW |
12 |
13,273,858 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4234:Ddx1
|
UTSW |
12 |
13,273,858 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4243:Ddx1
|
UTSW |
12 |
13,290,910 (GRCm39) |
nonsense |
probably null |
|
|
R4717:Ddx1
|
UTSW |
12 |
13,290,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Ddx1
|
UTSW |
12 |
13,289,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Ddx1
|
UTSW |
12 |
13,273,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Ddx1
|
UTSW |
12 |
13,270,436 (GRCm39) |
nonsense |
probably null |
|
|
R5528:Ddx1
|
UTSW |
12 |
13,279,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Ddx1
|
UTSW |
12 |
13,287,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6398:Ddx1
|
UTSW |
12 |
13,295,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Ddx1
|
UTSW |
12 |
13,286,096 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7085:Ddx1
|
UTSW |
12 |
13,279,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7125:Ddx1
|
UTSW |
12 |
13,293,864 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7307:Ddx1
|
UTSW |
12 |
13,273,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7388:Ddx1
|
UTSW |
12 |
13,275,456 (GRCm39) |
missense |
probably null |
1.00 |
|
R7393:Ddx1
|
UTSW |
12 |
13,280,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7460:Ddx1
|
UTSW |
12 |
13,281,440 (GRCm39) |
splice site |
probably null |
|
|
R8310:Ddx1
|
UTSW |
12 |
13,274,280 (GRCm39) |
intron |
probably benign |
|
|
R8479:Ddx1
|
UTSW |
12 |
13,270,749 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8712:Ddx1
|
UTSW |
12 |
13,293,859 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8790:Ddx1
|
UTSW |
12 |
13,273,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Ddx1
|
UTSW |
12 |
13,277,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Ddx1
|
UTSW |
12 |
13,275,458 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9214:Ddx1
|
UTSW |
12 |
13,286,119 (GRCm39) |
missense |
probably benign |
|
|
R9400:Ddx1
|
UTSW |
12 |
13,273,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Ddx1
|
UTSW |
12 |
13,279,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Ddx1
|
UTSW |
12 |
13,293,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ddx1
|
UTSW |
12 |
13,279,260 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCACCAGGGAAATAGCC -3'
(R):5'- ACCATGTAGCTTTCTTAGTGGAG -3'
Sequencing Primer
(F):5'- GGGAAATAGCCAGGCCCATC -3'
(R):5'- GTTTTATGCATTCACTGACAGACACC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation