Incidental Mutation 'R1054:Dhx32'
| ID |
94192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx32
|
| Ensembl Gene |
ENSMUSG00000030986 |
| Gene Name |
DEAH-box helicase 32 (putative) |
| Synonyms |
Ddx32, DEAH (Asp-Glu-Ala-His) box polypeptide 32 |
| MMRRC Submission |
039144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R1054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133322671-133384455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133327001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 360
(K360M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033282]
[ENSMUST00000033290]
[ENSMUST00000063669]
[ENSMUST00000106139]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033282
|
| SMART Domains |
Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCIP
|
58 |
258 |
2.1e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033290
AA Change: K500M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: K500M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
67 |
253 |
1e-107 |
BLAST |
|
SCOP:d1jpna2
|
77 |
289 |
9e-21 |
SMART |
|
HA2
|
465 |
556 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
597 |
704 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063669
AA Change: K500M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: K500M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
67 |
253 |
1e-107 |
BLAST |
|
SCOP:d1jpna2
|
77 |
289 |
9e-21 |
SMART |
|
HA2
|
465 |
556 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
594 |
704 |
4.6e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106139
AA Change: K360M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
AA Change: K360M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
1 |
113 |
5e-54 |
BLAST |
|
SCOP:d1jpna2
|
1 |
149 |
6e-11 |
SMART |
|
HA2
|
325 |
416 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
457 |
564 |
1.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151711
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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 this 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 function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,635,759 (GRCm39) |
T159A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,822,226 (GRCm39) |
Y763C |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,458,611 (GRCm39) |
F245Y |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,225,318 (GRCm39) |
I113T |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,279,787 (GRCm39) |
M932K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,076 (GRCm39) |
F442L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,175,534 (GRCm39) |
D105N |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,151 (GRCm39) |
I444F |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,799,602 (GRCm39) |
C669S |
possibly damaging |
Het |
| Dusp8 |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
7: 141,635,804 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
G |
A |
7: 108,537,024 (GRCm39) |
|
probably null |
Het |
| Elmod1 |
T |
C |
9: 53,820,058 (GRCm39) |
D310G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,625,373 (GRCm39) |
*2272Q |
probably null |
Het |
| Gnat1 |
A |
G |
9: 107,554,638 (GRCm39) |
S76P |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 76,232,885 (GRCm39) |
T94A |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,341,264 (GRCm39) |
W152R |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,110,512 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,639,793 (GRCm39) |
I753T |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,156,072 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Med25 |
C |
T |
7: 44,529,804 (GRCm39) |
A485T |
probably benign |
Het |
| Mup5 |
A |
T |
4: 61,750,871 (GRCm39) |
S145R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,987 (GRCm39) |
V105A |
probably damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,492 (GRCm39) |
|
probably null |
Het |
| Or52h1 |
A |
G |
7: 103,829,498 (GRCm39) |
I39T |
probably benign |
Het |
| Or6p1 |
A |
G |
1: 174,258,419 (GRCm39) |
T142A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,664,635 (GRCm39) |
R79G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,509,955 (GRCm39) |
V353A |
probably benign |
Het |
| Pou3f2 |
A |
G |
4: 22,487,536 (GRCm39) |
V199A |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,766,361 (GRCm39) |
E15G |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,313 (GRCm39) |
N43K |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,758,077 (GRCm39) |
D339N |
probably damaging |
Het |
| Rpl13-ps3 |
C |
A |
14: 59,131,394 (GRCm39) |
|
noncoding transcript |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr16c6 |
A |
G |
4: 4,069,908 (GRCm39) |
V144A |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,865,332 (GRCm39) |
H827N |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,856,432 (GRCm39) |
V690A |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,954,530 (GRCm39) |
H535Q |
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,342,790 (GRCm39) |
V36A |
probably benign |
Het |
| Tmem74b |
C |
T |
2: 151,548,339 (GRCm39) |
A22V |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,627,543 (GRCm39) |
Y65* |
probably null |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,624 (GRCm39) |
S133R |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,567,190 (GRCm39) |
C311Y |
probably damaging |
Het |
| Wipf2 |
G |
A |
11: 98,787,141 (GRCm39) |
R390H |
possibly damaging |
Het |
| Zfp282 |
T |
A |
6: 47,881,533 (GRCm39) |
S407T |
probably benign |
Het |
|
| Other mutations in Dhx32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Dhx32
|
APN |
7 |
133,350,706 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03398:Dhx32
|
APN |
7 |
133,361,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Dhx32
|
UTSW |
7 |
133,339,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1438:Dhx32
|
UTSW |
7 |
133,339,069 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1532:Dhx32
|
UTSW |
7 |
133,350,753 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1864:Dhx32
|
UTSW |
7 |
133,339,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1865:Dhx32
|
UTSW |
7 |
133,339,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2074:Dhx32
|
UTSW |
7 |
133,323,021 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2075:Dhx32
|
UTSW |
7 |
133,323,021 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2119:Dhx32
|
UTSW |
7 |
133,323,976 (GRCm39) |
nonsense |
probably null |
|
|
R2377:Dhx32
|
UTSW |
7 |
133,326,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3125:Dhx32
|
UTSW |
7 |
133,327,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Dhx32
|
UTSW |
7 |
133,335,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Dhx32
|
UTSW |
7 |
133,340,384 (GRCm39) |
intron |
probably benign |
|
|
R5538:Dhx32
|
UTSW |
7 |
133,324,946 (GRCm39) |
missense |
probably benign |
|
|
R5616:Dhx32
|
UTSW |
7 |
133,322,957 (GRCm39) |
makesense |
probably null |
|
|
R5951:Dhx32
|
UTSW |
7 |
133,339,057 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6081:Dhx32
|
UTSW |
7 |
133,323,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Dhx32
|
UTSW |
7 |
133,344,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Dhx32
|
UTSW |
7 |
133,338,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Dhx32
|
UTSW |
7 |
133,344,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Dhx32
|
UTSW |
7 |
133,361,206 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7686:Dhx32
|
UTSW |
7 |
133,361,430 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7952:Dhx32
|
UTSW |
7 |
133,350,725 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8025:Dhx32
|
UTSW |
7 |
133,323,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Dhx32
|
UTSW |
7 |
133,339,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8389:Dhx32
|
UTSW |
7 |
133,326,935 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8945:Dhx32
|
UTSW |
7 |
133,323,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8949:Dhx32
|
UTSW |
7 |
133,344,470 (GRCm39) |
nonsense |
probably null |
|
|
R9485:Dhx32
|
UTSW |
7 |
133,327,110 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9720:Dhx32
|
UTSW |
7 |
133,324,857 (GRCm39) |
nonsense |
probably null |
|
|
R9790:Dhx32
|
UTSW |
7 |
133,326,267 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9791:Dhx32
|
UTSW |
7 |
133,326,267 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTAGTCCATGCTGCTGTCAAG -3'
(R):5'- AAAAGTCACTACGTGCTGCCCC -3'
Sequencing Primer
(F):5'- CCATGCTGCTGTCAAGGAATG -3'
(R):5'- GCCCCCTCAGTTGTGTAAAATTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation