Incidental Mutation 'R4574:Ddx23'
| ID |
397133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx23
|
| Ensembl Gene |
ENSMUSG00000003360 |
| Gene Name |
DEAD box helicase 23 |
| Synonyms |
4921506D17Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 23, 3110082M05Rik |
| MMRRC Submission |
041797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
98543015-98560775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98545505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 601
(T601I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003442]
[ENSMUST00000003450]
[ENSMUST00000109150]
[ENSMUST00000230490]
|
| AlphaFold |
D3Z0M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003442
|
| SMART Domains |
Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
16 |
58 |
8.7e-22 |
PFAM |
|
SH3
|
62 |
125 |
1.04e0 |
SMART |
|
GuKc
|
176 |
357 |
1.3e-32 |
SMART |
|
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003450
AA Change: T601I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360
AA Change: T601I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
161 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
320 |
352 |
N/A |
INTRINSIC |
|
DEXDc
|
409 |
641 |
2.95e-65 |
SMART |
|
HELICc
|
677 |
758 |
2.43e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109150
|
| SMART Domains |
Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
15 |
57 |
2.2e-21 |
PFAM |
|
SH3
|
61 |
124 |
1.04e0 |
SMART |
|
GuKc
|
175 |
356 |
1.3e-32 |
SMART |
|
low complexity region
|
362 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230490
|
| Meta Mutation Damage Score |
0.9403 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (63/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Adamts9 |
G |
A |
6: 92,856,940 (GRCm39) |
R319* |
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,469,115 (GRCm39) |
S1575R |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,764 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
C |
T |
3: 103,081,666 (GRCm39) |
P90S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,920,469 (GRCm39) |
N477D |
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,111,814 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,290,804 (GRCm39) |
E634G |
probably benign |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cpt1b |
G |
T |
15: 89,308,247 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
G |
7: 127,318,556 (GRCm39) |
T148P |
possibly damaging |
Het |
| Dlx6 |
G |
T |
6: 6,865,305 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,265 (GRCm39) |
N183K |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 117,975,990 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
C |
T |
15: 28,367,909 (GRCm39) |
P2765S |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,403,359 (GRCm39) |
M1L |
probably damaging |
Het |
| Gm4841 |
T |
C |
18: 60,402,998 (GRCm39) |
N365S |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,872 (GRCm39) |
|
probably null |
Het |
| Irx5 |
G |
A |
8: 93,084,890 (GRCm39) |
V27I |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,697,405 (GRCm39) |
V101D |
possibly damaging |
Het |
| Maip1 |
A |
C |
1: 57,452,404 (GRCm39) |
K219Q |
possibly damaging |
Het |
| Mpp7 |
G |
T |
18: 7,353,228 (GRCm39) |
R493S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,281,335 (GRCm39) |
T408A |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,127,998 (GRCm39) |
N117S |
possibly damaging |
Het |
| Mtres1 |
T |
A |
10: 43,409,006 (GRCm39) |
S46C |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,176,893 (GRCm39) |
I613V |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,860 (GRCm39) |
Q44R |
probably benign |
Het |
| Nup54 |
T |
A |
5: 92,573,641 (GRCm39) |
N187I |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or5ak22 |
C |
A |
2: 85,230,370 (GRCm39) |
C169F |
probably damaging |
Het |
| Pate2 |
C |
A |
9: 35,596,969 (GRCm39) |
|
probably benign |
Het |
| Pccb |
T |
C |
9: 100,867,252 (GRCm39) |
S445G |
probably damaging |
Het |
| Pex3 |
G |
A |
10: 13,411,315 (GRCm39) |
Q188* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,231,351 (GRCm39) |
W74R |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,874 (GRCm39) |
S628P |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,669 (GRCm39) |
H346R |
probably benign |
Het |
| Pom121l2 |
T |
A |
13: 22,168,572 (GRCm39) |
C948S |
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,999,404 (GRCm39) |
M284K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,277,919 (GRCm39) |
L414S |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,016,583 (GRCm39) |
K53N |
probably damaging |
Het |
| Rorc |
T |
C |
3: 94,296,291 (GRCm39) |
S163P |
probably benign |
Het |
| Rpl3l |
A |
C |
17: 24,952,984 (GRCm39) |
T315P |
possibly damaging |
Het |
| Rsph3b |
A |
G |
17: 7,172,438 (GRCm39) |
V487A |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,416,080 (GRCm39) |
E462G |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,576,344 (GRCm39) |
T838A |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,008,561 (GRCm39) |
Y236H |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,442,457 (GRCm39) |
R1984H |
probably damaging |
Het |
| Steap3 |
G |
T |
1: 120,169,186 (GRCm39) |
D370E |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,085,393 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
T |
C |
17: 25,320,647 (GRCm39) |
E754G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,353 (GRCm39) |
F604L |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,131 (GRCm39) |
D1734E |
probably benign |
Het |
| Tsfm |
A |
C |
10: 126,864,242 (GRCm39) |
Y158D |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,197,591 (GRCm39) |
|
probably benign |
Het |
| Upk3a |
G |
T |
15: 84,904,752 (GRCm39) |
V167F |
possibly damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,939 (GRCm39) |
S327L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,858,965 (GRCm39) |
I2805N |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,673,534 (GRCm39) |
D166G |
possibly damaging |
Het |
|
| Other mutations in Ddx23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01106:Ddx23
|
APN |
15 |
98,548,821 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02320:Ddx23
|
APN |
15 |
98,548,819 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02325:Ddx23
|
APN |
15 |
98,545,074 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02456:Ddx23
|
APN |
15 |
98,545,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Ddx23
|
APN |
15 |
98,556,199 (GRCm39) |
missense |
unknown |
|
|
IGL03173:Ddx23
|
APN |
15 |
98,548,885 (GRCm39) |
missense |
probably benign |
0.31 |
|
BB007:Ddx23
|
UTSW |
15 |
98,546,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Ddx23
|
UTSW |
15 |
98,546,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Ddx23
|
UTSW |
15 |
98,554,481 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1930:Ddx23
|
UTSW |
15 |
98,548,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1931:Ddx23
|
UTSW |
15 |
98,548,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1932:Ddx23
|
UTSW |
15 |
98,548,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3546:Ddx23
|
UTSW |
15 |
98,548,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4174:Ddx23
|
UTSW |
15 |
98,556,132 (GRCm39) |
missense |
unknown |
|
|
R4728:Ddx23
|
UTSW |
15 |
98,548,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Ddx23
|
UTSW |
15 |
98,545,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4811:Ddx23
|
UTSW |
15 |
98,545,352 (GRCm39) |
splice site |
probably null |
|
|
R5134:Ddx23
|
UTSW |
15 |
98,548,651 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5895:Ddx23
|
UTSW |
15 |
98,549,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5952:Ddx23
|
UTSW |
15 |
98,556,121 (GRCm39) |
missense |
unknown |
|
|
R6012:Ddx23
|
UTSW |
15 |
98,548,651 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6289:Ddx23
|
UTSW |
15 |
98,547,765 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6705:Ddx23
|
UTSW |
15 |
98,550,849 (GRCm39) |
nonsense |
probably null |
|
|
R7289:Ddx23
|
UTSW |
15 |
98,546,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7484:Ddx23
|
UTSW |
15 |
98,546,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7543:Ddx23
|
UTSW |
15 |
98,556,139 (GRCm39) |
missense |
unknown |
|
|
R7740:Ddx23
|
UTSW |
15 |
98,556,315 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7930:Ddx23
|
UTSW |
15 |
98,546,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Ddx23
|
UTSW |
15 |
98,556,145 (GRCm39) |
missense |
unknown |
|
|
R9558:Ddx23
|
UTSW |
15 |
98,545,433 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1088:Ddx23
|
UTSW |
15 |
98,545,502 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCAGACAAAAGCACCCAGG -3'
(R):5'- GCTGATGTCAGGAATCAAGATGC -3'
Sequencing Primer
(F):5'- AAGCACCCAGGTTTCCCCG -3'
(R):5'- TCAGGAATCAAGATGCTACCTGGATC -3'
|
| Posted On |
2016-06-24 |
Incidental Mutation