Incidental Mutation 'R3983:Ddx11'
| ID |
350716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx11
|
| Ensembl Gene |
ENSMUSG00000035842 |
| Gene Name |
DEAD/H box helicase 11 |
| Synonyms |
4732462I11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, CHL1, essa15a, CHLR1, KRG2 |
| MMRRC Submission |
040944-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3983 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66430515-66459169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66441125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 242
(R242W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163605]
[ENSMUST00000224497]
[ENSMUST00000224903]
[ENSMUST00000225956]
|
| AlphaFold |
Q6AXC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163605
AA Change: R216W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: R216W
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
11 |
408 |
1.14e-153 |
SMART |
|
Blast:DEXDc2
|
430 |
479 |
6e-14 |
BLAST |
|
HELICc
|
682 |
839 |
1.4e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223805
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224497
AA Change: R242W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224903
AA Change: R242W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225956
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (65/65) |
| 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 an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,220 (GRCm39) |
N138Y |
possibly damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,644,713 (GRCm39) |
I821V |
probably benign |
Het |
| Adam34 |
G |
A |
8: 44,103,806 (GRCm39) |
T613I |
probably benign |
Het |
| Ap2b1 |
C |
T |
11: 83,281,542 (GRCm39) |
T816M |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,770,539 (GRCm39) |
|
probably benign |
Het |
| Chrna2 |
G |
T |
14: 66,386,906 (GRCm39) |
V351L |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
| Cyp2c50 |
A |
C |
19: 40,101,962 (GRCm39) |
K400T |
possibly damaging |
Het |
| Cyp2c54 |
G |
T |
19: 40,034,699 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Dcpp2 |
T |
A |
17: 24,119,547 (GRCm39) |
Y120* |
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,272,871 (GRCm39) |
V2333E |
possibly damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,623 (GRCm39) |
N197I |
possibly damaging |
Het |
| Eno3 |
T |
A |
11: 70,552,237 (GRCm39) |
F296L |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Gdap1 |
T |
G |
1: 17,230,131 (GRCm39) |
|
probably benign |
Het |
| Gm1587 |
C |
T |
14: 78,032,283 (GRCm39) |
E118K |
unknown |
Het |
| Gprin3 |
T |
C |
6: 59,331,545 (GRCm39) |
E254G |
possibly damaging |
Het |
| Hcrt |
G |
A |
11: 100,652,679 (GRCm39) |
R112C |
probably damaging |
Het |
| Hoxa4 |
A |
T |
6: 52,167,657 (GRCm39) |
Y175N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,118,957 (GRCm39) |
G504R |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,485,823 (GRCm39) |
R325G |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,559,042 (GRCm39) |
P1522L |
possibly damaging |
Het |
| Kmt2d |
T |
G |
15: 98,743,927 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,073,059 (GRCm39) |
V164A |
possibly damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,337,996 (GRCm39) |
V646A |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,965,714 (GRCm39) |
K1175N |
probably benign |
Het |
| Myo1c |
T |
A |
11: 75,552,325 (GRCm39) |
L366Q |
probably benign |
Het |
| Or12d15 |
T |
C |
17: 37,694,289 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,961 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or6f1 |
A |
G |
7: 85,970,942 (GRCm39) |
Y73H |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,876,940 (GRCm39) |
T29A |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,692,405 (GRCm39) |
E563G |
possibly damaging |
Het |
| Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
| Rnf44 |
A |
C |
13: 54,830,961 (GRCm39) |
S98R |
probably damaging |
Het |
| Samhd1 |
C |
A |
2: 156,965,369 (GRCm39) |
V149L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,238,644 (GRCm39) |
N214K |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,591 (GRCm39) |
N813S |
probably benign |
Het |
| Sirt3 |
A |
T |
7: 140,458,025 (GRCm39) |
C41* |
probably null |
Het |
| Speg |
C |
A |
1: 75,399,191 (GRCm39) |
P2213T |
probably benign |
Het |
| Srcin1 |
T |
G |
11: 97,416,379 (GRCm39) |
E951A |
probably damaging |
Het |
| Syn2 |
C |
G |
6: 115,214,259 (GRCm39) |
T161S |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,649 (GRCm39) |
T326A |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,815 (GRCm39) |
A160S |
possibly damaging |
Het |
| Tes |
T |
A |
6: 17,099,700 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,553,030 (GRCm39) |
T354A |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,632,705 (GRCm39) |
S12370R |
possibly damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,758 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r181 |
C |
T |
7: 23,684,234 (GRCm39) |
T233I |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,678 (GRCm39) |
C56F |
probably benign |
Het |
|
| Other mutations in Ddx11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Ddx11
|
APN |
17 |
66,441,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Ddx11
|
APN |
17 |
66,446,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02558:Ddx11
|
APN |
17 |
66,455,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02801:Ddx11
|
APN |
17 |
66,455,028 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1550:Ddx11
|
UTSW |
17 |
66,445,215 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1587:Ddx11
|
UTSW |
17 |
66,456,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Ddx11
|
UTSW |
17 |
66,457,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1625:Ddx11
|
UTSW |
17 |
66,457,692 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1714:Ddx11
|
UTSW |
17 |
66,455,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Ddx11
|
UTSW |
17 |
66,442,934 (GRCm39) |
splice site |
probably null |
|
|
R1959:Ddx11
|
UTSW |
17 |
66,437,723 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1980:Ddx11
|
UTSW |
17 |
66,455,734 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2392:Ddx11
|
UTSW |
17 |
66,456,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3118:Ddx11
|
UTSW |
17 |
66,456,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3425:Ddx11
|
UTSW |
17 |
66,446,434 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4571:Ddx11
|
UTSW |
17 |
66,437,768 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4576:Ddx11
|
UTSW |
17 |
66,457,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Ddx11
|
UTSW |
17 |
66,437,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Ddx11
|
UTSW |
17 |
66,454,717 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5414:Ddx11
|
UTSW |
17 |
66,455,763 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5610:Ddx11
|
UTSW |
17 |
66,457,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Ddx11
|
UTSW |
17 |
66,436,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5972:Ddx11
|
UTSW |
17 |
66,455,085 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6017:Ddx11
|
UTSW |
17 |
66,437,012 (GRCm39) |
missense |
|
|
|
R6267:Ddx11
|
UTSW |
17 |
66,457,724 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6296:Ddx11
|
UTSW |
17 |
66,457,724 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7205:Ddx11
|
UTSW |
17 |
66,437,766 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7531:Ddx11
|
UTSW |
17 |
66,445,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7544:Ddx11
|
UTSW |
17 |
66,433,280 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7593:Ddx11
|
UTSW |
17 |
66,433,193 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7598:Ddx11
|
UTSW |
17 |
66,437,541 (GRCm39) |
splice site |
probably null |
|
|
R7778:Ddx11
|
UTSW |
17 |
66,437,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7824:Ddx11
|
UTSW |
17 |
66,437,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8087:Ddx11
|
UTSW |
17 |
66,456,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8379:Ddx11
|
UTSW |
17 |
66,437,020 (GRCm39) |
missense |
probably benign |
|
|
R8885:Ddx11
|
UTSW |
17 |
66,450,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9071:Ddx11
|
UTSW |
17 |
66,450,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Ddx11
|
UTSW |
17 |
66,457,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9398:Ddx11
|
UTSW |
17 |
66,436,912 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9556:Ddx11
|
UTSW |
17 |
66,447,207 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9639:Ddx11
|
UTSW |
17 |
66,437,012 (GRCm39) |
missense |
|
|
|
R9775:Ddx11
|
UTSW |
17 |
66,445,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACTTGGATCCTAGGCACTG -3'
(R):5'- CCAACAAAGGAGCGCTGTTC -3'
Sequencing Primer
(F):5'- CAGGTGTAACCAGAGCTGACTTTC -3'
(R):5'- AAAGGAGCGCTGTTCCCATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation