Incidental Mutation 'R5041:Ddx3y'
| ID |
393232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx3y
|
| Ensembl Gene |
ENSMUSG00000069045 |
| Gene Name |
DEAD box helicase 3, Y-linked |
| Synonyms |
8030469F12Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked, D1Pas1-rs1, Dby |
| MMRRC Submission |
042631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.029)
|
| Stock # |
R5041 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
Y |
| Chromosomal Location |
1260771-1286629 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 1266611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 282
(Y282F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091190]
[ENSMUST00000188484]
|
| AlphaFold |
Q62095 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091190
AA Change: Y282F
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045
AA Change: Y282F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
DEXDc
|
198 |
417 |
3.39e-65 |
SMART |
|
HELICc
|
454 |
535 |
2.61e-34 |
SMART |
|
low complexity region
|
580 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188484
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
| Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
| Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
| Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
| Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
| Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
| Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
| Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
| Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
| Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
| Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ddx3y |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03134:Ddx3y
|
UTSW |
Y |
1,278,949 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0326:Ddx3y
|
UTSW |
Y |
1,263,321 (GRCm39) |
nonsense |
probably null |
|
|
R1755:Ddx3y
|
UTSW |
Y |
1,279,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Ddx3y
|
UTSW |
Y |
1,266,389 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2076:Ddx3y
|
UTSW |
Y |
1,266,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3610:Ddx3y
|
UTSW |
Y |
1,263,928 (GRCm39) |
missense |
probably null |
1.00 |
|
R3973:Ddx3y
|
UTSW |
Y |
1,267,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Ddx3y
|
UTSW |
Y |
1,265,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Ddx3y
|
UTSW |
Y |
1,266,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6473:Ddx3y
|
UTSW |
Y |
1,265,971 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7048:Ddx3y
|
UTSW |
Y |
1,279,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7900:Ddx3y
|
UTSW |
Y |
1,266,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8090:Ddx3y
|
UTSW |
Y |
1,264,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Ddx3y
|
UTSW |
Y |
1,269,827 (GRCm39) |
missense |
probably benign |
|
|
R9005:Ddx3y
|
UTSW |
Y |
1,282,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9491:Ddx3y
|
UTSW |
Y |
1,279,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9555:Ddx3y
|
UTSW |
Y |
1,265,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9638:Ddx3y
|
UTSW |
Y |
1,263,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACGTTCTAAGTCCCGAATC -3'
(R):5'- AAATTACATGTGGCACTGTGG -3'
Sequencing Primer
(F):5'- GTTCTAAGTCCCGAATCTGCTGAAC -3'
(R):5'- TCACAAATGTCTGTAACTCCAGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation