Incidental Mutation 'R6955:Ddx17'
| ID |
541431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx17
|
| Ensembl Gene |
ENSMUSG00000055065 |
| Gene Name |
DEAD box helicase 17 |
| Synonyms |
p72, LOC381024, 2610007K22Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 17, A430025E01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79411937-79430942 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79414668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 500
(M500V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010974]
[ENSMUST00000054014]
[ENSMUST00000229431]
[ENSMUST00000229877]
[ENSMUST00000231053]
|
| AlphaFold |
Q501J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010974
|
| SMART Domains |
Protein: ENSMUSP00000010974
Gene: ENSMUSG00000010830
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ER_lumen_recept
|
28 |
169 |
3.3e-54 |
PFAM |
|
transmembrane domain
|
179 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054014
AA Change: M502V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: M502V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
29 |
87 |
7e-18 |
BLAST |
|
DEXDc
|
111 |
314 |
4.79e-65 |
SMART |
|
HELICc
|
353 |
434 |
3.34e-32 |
SMART |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
611 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229877
AA Change: M500V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231053
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the mouse homolog of human DEAD box polypeptide 17. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). RNA helicases of the DEAD-box family are involved in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,727,004 (GRCm39) |
W70R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
| Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
| Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
| Klb |
T |
A |
5: 65,536,431 (GRCm39) |
L587* |
probably null |
Het |
| Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,036,301 (GRCm39) |
Y702N |
probably damaging |
Het |
| Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,105,305 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
| Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
| Poglut2 |
A |
T |
1: 44,156,257 (GRCm39) |
L110Q |
probably damaging |
Het |
| Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
| Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,487,991 (GRCm39) |
|
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
| Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
| Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
| Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
probably null |
Het |
|
| Other mutations in Ddx17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02030:Ddx17
|
APN |
15 |
79,414,577 (GRCm39) |
missense |
probably benign |
|
|
IGL02904:Ddx17
|
APN |
15 |
79,414,638 (GRCm39) |
nonsense |
probably null |
|
|
PIT4469001:Ddx17
|
UTSW |
15 |
79,428,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Ddx17
|
UTSW |
15 |
79,421,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Ddx17
|
UTSW |
15 |
79,421,758 (GRCm39) |
splice site |
probably benign |
|
|
R1160:Ddx17
|
UTSW |
15 |
79,425,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Ddx17
|
UTSW |
15 |
79,414,577 (GRCm39) |
missense |
probably benign |
|
|
R1572:Ddx17
|
UTSW |
15 |
79,422,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4510:Ddx17
|
UTSW |
15 |
79,422,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Ddx17
|
UTSW |
15 |
79,422,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Ddx17
|
UTSW |
15 |
79,425,347 (GRCm39) |
missense |
probably benign |
|
|
R7152:Ddx17
|
UTSW |
15 |
79,414,464 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7320:Ddx17
|
UTSW |
15 |
79,416,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7805:Ddx17
|
UTSW |
15 |
79,421,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Ddx17
|
UTSW |
15 |
79,422,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Ddx17
|
UTSW |
15 |
79,420,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8934:Ddx17
|
UTSW |
15 |
79,420,217 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1177:Ddx17
|
UTSW |
15 |
79,414,373 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATAGGTGTATTGGCCTGC -3'
(R):5'- TGATCTACAGCTGTGTGGTAC -3'
Sequencing Primer
(F):5'- TGCTTGTGCCCCAAAGG -3'
(R):5'- CTCTAAAAGGCACCAAGTTGAGTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation