Incidental Mutation 'R5158:Dhx37'
| ID |
396829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx37
|
| Ensembl Gene |
ENSMUSG00000029480 |
| Gene Name |
DEAH-box helicase 37 |
| Synonyms |
LOC208144, LOC381671 |
| MMRRC Submission |
042740-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R5158 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
125490922-125511185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125492216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 1128
(Y1128N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169485]
|
| AlphaFold |
Q6NZL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169485
AA Change: Y1128N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: Y1128N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
231 |
N/A |
INTRINSIC |
|
DEXDc
|
246 |
438 |
3.55e-27 |
SMART |
|
AAA
|
263 |
463 |
9.3e-3 |
SMART |
|
HELICc
|
554 |
669 |
1.56e-14 |
SMART |
|
Blast:DEXDc
|
678 |
717 |
1e-10 |
BLAST |
|
HA2
|
729 |
852 |
3.32e-25 |
SMART |
|
Pfam:OB_NTP_bind
|
886 |
1004 |
1.1e-25 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196371
AA Change: S15R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196444
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DEAD box protein. 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
| Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
| Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
| Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
| Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
| Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
| Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
| Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
| Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
| Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
| Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
| Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly damaging |
Het |
|
| Other mutations in Dhx37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Dhx37
|
APN |
5 |
125,496,152 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02010:Dhx37
|
APN |
5 |
125,495,777 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02412:Dhx37
|
APN |
5 |
125,508,692 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02484:Dhx37
|
APN |
5 |
125,496,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02986:Dhx37
|
APN |
5 |
125,496,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Dhx37
|
UTSW |
5 |
125,504,594 (GRCm39) |
unclassified |
probably benign |
|
|
R0010:Dhx37
|
UTSW |
5 |
125,508,680 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0019:Dhx37
|
UTSW |
5 |
125,507,098 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0485:Dhx37
|
UTSW |
5 |
125,499,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0959:Dhx37
|
UTSW |
5 |
125,500,496 (GRCm39) |
missense |
probably benign |
|
|
R1101:Dhx37
|
UTSW |
5 |
125,492,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Dhx37
|
UTSW |
5 |
125,498,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1309:Dhx37
|
UTSW |
5 |
125,494,502 (GRCm39) |
nonsense |
probably null |
|
|
R1777:Dhx37
|
UTSW |
5 |
125,506,995 (GRCm39) |
missense |
probably benign |
|
|
R2001:Dhx37
|
UTSW |
5 |
125,504,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Dhx37
|
UTSW |
5 |
125,498,166 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3826:Dhx37
|
UTSW |
5 |
125,508,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3829:Dhx37
|
UTSW |
5 |
125,508,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3830:Dhx37
|
UTSW |
5 |
125,508,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4007:Dhx37
|
UTSW |
5 |
125,501,995 (GRCm39) |
splice site |
probably benign |
|
|
R5058:Dhx37
|
UTSW |
5 |
125,499,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5436:Dhx37
|
UTSW |
5 |
125,506,867 (GRCm39) |
missense |
probably benign |
|
|
R5789:Dhx37
|
UTSW |
5 |
125,498,103 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5834:Dhx37
|
UTSW |
5 |
125,502,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Dhx37
|
UTSW |
5 |
125,501,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6490:Dhx37
|
UTSW |
5 |
125,496,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6967:Dhx37
|
UTSW |
5 |
125,499,231 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7101:Dhx37
|
UTSW |
5 |
125,502,006 (GRCm39) |
nonsense |
probably null |
|
|
R8036:Dhx37
|
UTSW |
5 |
125,501,739 (GRCm39) |
missense |
probably benign |
|
|
R9177:Dhx37
|
UTSW |
5 |
125,507,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9294:Dhx37
|
UTSW |
5 |
125,499,736 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Dhx37
|
UTSW |
5 |
125,493,655 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1177:Dhx37
|
UTSW |
5 |
125,502,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Dhx37
|
UTSW |
5 |
125,502,044 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGCTTCTGAATTGGGC -3'
(R):5'- ACAGAGACCCTATTGAGAGCCC -3'
Sequencing Primer
(F):5'- TTGGGCAGAAAAGGGCTGTC -3'
(R):5'- ACAAGGCTGATTCTCGTGATTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation