Incidental Mutation 'R7610:Ddx25'
| ID |
588551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx25
|
| Ensembl Gene |
ENSMUSG00000032101 |
| Gene Name |
DEAD box helicase 25 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 25, GRTH |
| MMRRC Submission |
045679-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R7610 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35453144-35469766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35465893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 109
(L109F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034612]
[ENSMUST00000034615]
[ENSMUST00000121246]
|
| AlphaFold |
Q9QY15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034612
AA Change: L109F
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101
AA Change: L109F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
111 |
N/A |
INTRINSIC |
|
DEXDc
|
117 |
316 |
1.26e-41 |
SMART |
|
HELICc
|
353 |
440 |
6.18e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034615
|
| SMART Domains |
Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
46 |
N/A |
INTRINSIC |
|
Pfam:PseudoU_synth_1
|
68 |
190 |
6.8e-12 |
PFAM |
|
Pfam:PseudoU_synth_1
|
213 |
331 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121246
|
| SMART Domains |
Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
46 |
N/A |
INTRINSIC |
|
Pfam:PseudoU_synth_1
|
68 |
190 |
3e-12 |
PFAM |
|
Pfam:PseudoU_synth_1
|
213 |
316 |
1.5e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.6062 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (51/51) |
| 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 the 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 encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility, arrest of spermatogenesis at step 8, abnormal Leydig cells, and increased germ cell apoptosis in males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adtrp |
A |
G |
13: 41,969,670 (GRCm39) |
F110L |
probably benign |
Het |
| Akap9 |
T |
G |
5: 4,007,677 (GRCm39) |
D230E |
possibly damaging |
Het |
| Alg11 |
G |
A |
8: 22,555,147 (GRCm39) |
R136H |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,822,252 (GRCm39) |
N307I |
|
Het |
| Ankrd17 |
A |
G |
5: 90,380,222 (GRCm39) |
S2489P |
possibly damaging |
Het |
| Asf1b |
T |
G |
8: 84,691,678 (GRCm39) |
I43S |
probably damaging |
Het |
| Cdc37l1 |
G |
T |
19: 28,985,132 (GRCm39) |
G261W |
possibly damaging |
Het |
| Cpped1 |
C |
A |
16: 11,712,742 (GRCm39) |
|
probably null |
Het |
| Ctsk |
T |
C |
3: 95,408,155 (GRCm39) |
F4L |
probably benign |
Het |
| D130043K22Rik |
A |
T |
13: 25,059,985 (GRCm39) |
T619S |
probably benign |
Het |
| Dhrs9 |
C |
A |
2: 69,223,291 (GRCm39) |
A13D |
unknown |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,781,423 (GRCm39) |
|
probably null |
Het |
| Fancm |
T |
C |
12: 65,152,454 (GRCm39) |
V970A |
probably damaging |
Het |
| Fcrl2 |
C |
A |
3: 87,160,004 (GRCm39) |
V417F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,129,709 (GRCm39) |
A504S |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,279,098 (GRCm39) |
S608P |
probably damaging |
Het |
| Ggta1 |
C |
T |
2: 35,304,230 (GRCm39) |
|
probably null |
Het |
| Grb10 |
T |
C |
11: 11,893,955 (GRCm39) |
K377R |
probably benign |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Klf14 |
A |
G |
6: 30,935,005 (GRCm39) |
S210P |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,332,554 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
T |
C |
16: 4,752,097 (GRCm39) |
*533Q |
probably null |
Het |
| Mtarc2 |
A |
G |
1: 184,551,483 (GRCm39) |
Y318H |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,368,191 (GRCm39) |
H598Q |
probably benign |
Het |
| Nt5el |
T |
A |
13: 105,247,695 (GRCm39) |
N338K |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,141 (GRCm39) |
S211P |
probably damaging |
Het |
| Or13a21 |
A |
T |
7: 139,999,466 (GRCm39) |
C73* |
probably null |
Het |
| Or8i2 |
A |
G |
2: 86,852,141 (GRCm39) |
V249A |
possibly damaging |
Het |
| Pgm5 |
A |
C |
19: 24,812,120 (GRCm39) |
N137K |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,550,240 (GRCm39) |
N172I |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,436 (GRCm39) |
M19K |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,064 (GRCm39) |
H912Y |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,428,371 (GRCm39) |
V251A |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
| Rhpn1 |
A |
G |
15: 75,584,245 (GRCm39) |
T446A |
unknown |
Het |
| Rtn3 |
A |
G |
19: 7,435,294 (GRCm39) |
S233P |
probably damaging |
Het |
| Rwdd1 |
A |
C |
10: 33,877,134 (GRCm39) |
D203E |
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,852,310 (GRCm39) |
L812P |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,955,021 (GRCm39) |
D1077G |
possibly damaging |
Het |
| Snrnp48 |
A |
G |
13: 38,393,937 (GRCm39) |
R81G |
probably damaging |
Het |
| Syt17 |
A |
T |
7: 118,033,682 (GRCm39) |
|
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,228,697 (GRCm39) |
I757T |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Wdr54 |
C |
T |
6: 83,129,839 (GRCm39) |
V305M |
possibly damaging |
Het |
| Xirp2 |
C |
T |
2: 67,356,306 (GRCm39) |
T3689I |
possibly damaging |
Het |
| Zscan18 |
T |
C |
7: 12,503,237 (GRCm39) |
K774R |
probably damaging |
Het |
|
| Other mutations in Ddx25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Ddx25
|
APN |
9 |
35,454,891 (GRCm39) |
splice site |
probably benign |
|
|
IGL00951:Ddx25
|
APN |
9 |
35,464,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02237:Ddx25
|
APN |
9 |
35,453,365 (GRCm39) |
splice site |
probably benign |
|
|
IGL02270:Ddx25
|
APN |
9 |
35,465,708 (GRCm39) |
splice site |
probably benign |
|
|
IGL02273:Ddx25
|
APN |
9 |
35,458,122 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02325:Ddx25
|
APN |
9 |
35,465,804 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02422:Ddx25
|
APN |
9 |
35,462,660 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02440:Ddx25
|
APN |
9 |
35,468,974 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02798:Ddx25
|
APN |
9 |
35,462,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03339:Ddx25
|
APN |
9 |
35,453,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Ddx25
|
UTSW |
9 |
35,457,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0893:Ddx25
|
UTSW |
9 |
35,465,686 (GRCm39) |
nonsense |
probably null |
|
|
R1171:Ddx25
|
UTSW |
9 |
35,458,142 (GRCm39) |
nonsense |
probably null |
|
|
R1448:Ddx25
|
UTSW |
9 |
35,469,034 (GRCm39) |
missense |
probably benign |
|
|
R1453:Ddx25
|
UTSW |
9 |
35,453,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Ddx25
|
UTSW |
9 |
35,457,272 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3055:Ddx25
|
UTSW |
9 |
35,462,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Ddx25
|
UTSW |
9 |
35,465,807 (GRCm39) |
splice site |
probably null |
|
|
R7425:Ddx25
|
UTSW |
9 |
35,465,882 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7535:Ddx25
|
UTSW |
9 |
35,454,951 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8758:Ddx25
|
UTSW |
9 |
35,453,300 (GRCm39) |
missense |
probably benign |
|
|
R8931:Ddx25
|
UTSW |
9 |
35,465,864 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8984:Ddx25
|
UTSW |
9 |
35,468,685 (GRCm39) |
missense |
probably benign |
|
|
R9103:Ddx25
|
UTSW |
9 |
35,458,085 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9585:Ddx25
|
UTSW |
9 |
35,455,009 (GRCm39) |
nonsense |
probably null |
|
|
R9759:Ddx25
|
UTSW |
9 |
35,457,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCTCTGTGCTATGAGG -3'
(R):5'- GTGGCTGAGACAACTAACAACG -3'
Sequencing Primer
(F):5'- CTGTGCTATGAGGTTCTGGGGAC -3'
(R):5'- ACGCTCAATTGCAAATGGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation