Incidental Mutation 'R4154:Ddx41'
| ID |
315054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx41
|
| Ensembl Gene |
ENSMUSG00000021494 |
| Gene Name |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 |
| Synonyms |
2900024F02Rik |
| MMRRC Submission |
040998-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4154 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55530410-55536658 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55534480 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 205
(R205W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021956]
[ENSMUST00000021957]
[ENSMUST00000224765]
|
| AlphaFold |
Q91VN6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021956
AA Change: R194W
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494
AA Change: R194W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
115 |
N/A |
INTRINSIC |
|
DEXDc
|
200 |
411 |
8.56e-53 |
SMART |
|
HELICc
|
446 |
527 |
5.99e-34 |
SMART |
|
ZnF_C2HC
|
581 |
597 |
1.98e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021957
|
| SMART Domains |
Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
286 |
N/A |
INTRINSIC |
|
coiled coil region
|
371 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
635 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
657 |
N/A |
INTRINSIC |
|
Pfam:FAM193_C
|
722 |
776 |
9.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224686
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224765
AA Change: R205W
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225783
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| 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. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI593442 |
A |
T |
9: 52,677,904 (GRCm38) |
H124Q |
probably benign |
Het |
| Asph |
C |
T |
4: 9,639,250 (GRCm38) |
W38* |
probably null |
Het |
| Bicdl2 |
A |
G |
17: 23,666,092 (GRCm38) |
|
probably null |
Het |
| Chd8 |
T |
C |
14: 52,207,211 (GRCm38) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,294,834 (GRCm38) |
N67D |
probably benign |
Het |
| Cptp |
A |
G |
4: 155,867,200 (GRCm38) |
V12A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,237,843 (GRCm38) |
I145V |
probably benign |
Het |
| Ctsc |
G |
A |
7: 88,299,547 (GRCm38) |
M195I |
probably benign |
Het |
| Fas |
T |
G |
19: 34,318,828 (GRCm38) |
I180S |
possibly damaging |
Het |
| Fsip2 |
A |
C |
2: 82,987,069 (GRCm38) |
E4382A |
possibly damaging |
Het |
| Galnt5 |
T |
G |
2: 57,998,493 (GRCm38) |
L35R |
probably damaging |
Het |
| Gfpt2 |
G |
A |
11: 49,835,778 (GRCm38) |
|
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm38) |
S89* |
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,995,079 (GRCm38) |
H110L |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,642,353 (GRCm38) |
V211A |
probably benign |
Het |
| Gsc2 |
TGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAG |
16: 17,914,802 (GRCm38) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,758,397 (GRCm38) |
M7K |
probably benign |
Het |
| Igkv12-44 |
C |
T |
6: 69,814,655 (GRCm38) |
C108Y |
possibly damaging |
Het |
| Lum |
T |
C |
10: 97,568,953 (GRCm38) |
S237P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,471,813 (GRCm38) |
K3052E |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,707,475 (GRCm38) |
E1588G |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,672,227 (GRCm38) |
Y32C |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,527,667 (GRCm38) |
T172A |
probably benign |
Het |
| Olfr690 |
T |
C |
7: 105,329,385 (GRCm38) |
N269S |
probably damaging |
Het |
| Pard3 |
G |
T |
8: 127,474,396 (GRCm38) |
R978L |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 36,953,586 (GRCm38) |
|
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,208,258 (GRCm38) |
V93A |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,311,283 (GRCm38) |
M516I |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,159,642 (GRCm38) |
F1336L |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
C |
12: 82,425,214 (GRCm38) |
G1323R |
possibly damaging |
Het |
| Sntg1 |
A |
T |
1: 8,583,345 (GRCm38) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,626,021 (GRCm38) |
K1153R |
probably benign |
Het |
| Strn3 |
C |
T |
12: 51,627,131 (GRCm38) |
V566M |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,068 (GRCm38) |
F2906S |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,386,135 (GRCm38) |
V545M |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,808,793 (GRCm38) |
|
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,834,358 (GRCm38) |
S157P |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,805,329 (GRCm38) |
V258M |
probably benign |
Het |
| Vat1l |
G |
C |
8: 114,205,803 (GRCm38) |
G30R |
possibly damaging |
Het |
| Vegfb |
T |
C |
19: 6,986,078 (GRCm38) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,523,419 (GRCm38) |
|
probably null |
Het |
| Zc3h15 |
T |
C |
2: 83,658,569 (GRCm38) |
V161A |
probably benign |
Het |
|
| Other mutations in Ddx41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Ddx41
|
APN |
13 |
55,531,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00516:Ddx41
|
APN |
13 |
55,532,467 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02383:Ddx41
|
APN |
13 |
55,532,357 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0081:Ddx41
|
UTSW |
13 |
55,535,380 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0097:Ddx41
|
UTSW |
13 |
55,535,878 (GRCm38) |
splice site |
probably benign |
|
|
R0412:Ddx41
|
UTSW |
13 |
55,530,608 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0597:Ddx41
|
UTSW |
13 |
55,533,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0699:Ddx41
|
UTSW |
13 |
55,531,299 (GRCm38) |
splice site |
probably benign |
|
|
R1330:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1812:Ddx41
|
UTSW |
13 |
55,535,954 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2011:Ddx41
|
UTSW |
13 |
55,534,093 (GRCm38) |
splice site |
probably null |
|
|
R2224:Ddx41
|
UTSW |
13 |
55,531,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2310:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2311:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2355:Ddx41
|
UTSW |
13 |
55,534,300 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2983:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3032:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3764:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3773:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3916:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3926:Ddx41
|
UTSW |
13 |
55,531,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4153:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4372:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4470:Ddx41
|
UTSW |
13 |
55,534,480 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4519:Ddx41
|
UTSW |
13 |
55,533,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Ddx41
|
UTSW |
13 |
55,536,021 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4823:Ddx41
|
UTSW |
13 |
55,532,055 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4837:Ddx41
|
UTSW |
13 |
55,531,648 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5443:Ddx41
|
UTSW |
13 |
55,535,291 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5642:Ddx41
|
UTSW |
13 |
55,535,895 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5926:Ddx41
|
UTSW |
13 |
55,534,299 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5949:Ddx41
|
UTSW |
13 |
55,532,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Ddx41
|
UTSW |
13 |
55,533,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6035:Ddx41
|
UTSW |
13 |
55,533,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7254:Ddx41
|
UTSW |
13 |
55,533,956 (GRCm38) |
nonsense |
probably null |
|
|
R7640:Ddx41
|
UTSW |
13 |
55,534,239 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7803:Ddx41
|
UTSW |
13 |
55,531,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8690:Ddx41
|
UTSW |
13 |
55,533,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8714:Ddx41
|
UTSW |
13 |
55,534,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9071:Ddx41
|
UTSW |
13 |
55,532,406 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9089:Ddx41
|
UTSW |
13 |
55,535,611 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9312:Ddx41
|
UTSW |
13 |
55,536,029 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTGAATACCAGTGTCTTGCC -3'
(R):5'- TGCTTCAACAGAGCTTCCATG -3'
Sequencing Primer
(F):5'- AATGCCGATCATGTCCCG -3'
(R):5'- TTCCATGAGAACTTAGGCCCAGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation