Incidental Mutation 'IGL01983:Naxd'
| ID |
183545 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naxd
|
| Ensembl Gene |
ENSMUSG00000031505 |
| Gene Name |
NAD(P)HX dehydratase |
| Synonyms |
0710008K08Rik, 2810407E01Rik, Carkd |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.551)
|
| Stock # |
IGL01983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
11547506-11563287 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 11560218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033901]
[ENSMUST00000049461]
[ENSMUST00000177955]
[ENSMUST00000178721]
[ENSMUST00000178817]
[ENSMUST00000211395]
[ENSMUST00000210478]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033901
|
| SMART Domains |
Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Pfam:Carb_kinase
|
94 |
356 |
6.2e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049461
|
| SMART Domains |
Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1e
|
50 |
351 |
4.1e-116 |
PFAM |
|
Pfam:tRNA-synt_1g
|
63 |
207 |
1.5e-7 |
PFAM |
|
Pfam:tRNA-synt_1g
|
280 |
370 |
4.2e-7 |
PFAM |
|
Blast:DALR_2
|
391 |
461 |
3e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177955
|
| SMART Domains |
Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carb_kinase
|
56 |
319 |
2.5e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178721
|
| SMART Domains |
Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carb_kinase
|
56 |
242 |
1.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178817
|
| SMART Domains |
Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carb_kinase
|
56 |
79 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210478
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
G |
A |
1: 66,880,783 (GRCm39) |
Q328* |
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,483,753 (GRCm39) |
Y85C |
probably damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,127 (GRCm39) |
R1313Q |
probably damaging |
Het |
| Chrnb1 |
G |
T |
11: 69,686,555 (GRCm39) |
R22S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,442,539 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
A |
G |
15: 63,809,236 (GRCm39) |
S251P |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,506,814 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
T |
A |
17: 78,800,282 (GRCm39) |
D424E |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,241,527 (GRCm39) |
I2106L |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,670 (GRCm39) |
D50E |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,220 (GRCm39) |
A287S |
possibly damaging |
Het |
| Ldb3 |
G |
A |
14: 34,299,156 (GRCm39) |
S156L |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,751,440 (GRCm39) |
W942R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,475 (GRCm39) |
V1218D |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,130,494 (GRCm39) |
|
probably null |
Het |
| Nus1 |
T |
A |
10: 52,312,753 (GRCm39) |
L295Q |
probably damaging |
Het |
| Nxph2 |
A |
G |
2: 23,289,946 (GRCm39) |
I99M |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,895,904 (GRCm39) |
I432N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,240,974 (GRCm39) |
L69S |
probably damaging |
Het |
| Pram1 |
C |
A |
17: 33,859,835 (GRCm39) |
A134D |
probably damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,081,317 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
| Tbc1d10c |
T |
A |
19: 4,240,708 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,691,349 (GRCm39) |
V500I |
probably benign |
Het |
| Trim66 |
G |
A |
7: 109,057,458 (GRCm39) |
R992* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,827,687 (GRCm39) |
D728G |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,971,608 (GRCm39) |
D696G |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,545,525 (GRCm39) |
V1707I |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,527 (GRCm39) |
H368L |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,855,421 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,673,866 (GRCm39) |
L1639M |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,898,270 (GRCm39) |
V218E |
probably damaging |
Het |
|
| Other mutations in Naxd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01776:Naxd
|
APN |
8 |
11,555,525 (GRCm39) |
splice site |
probably null |
|
|
R0496:Naxd
|
UTSW |
8 |
11,560,224 (GRCm39) |
unclassified |
probably benign |
|
|
R2044:Naxd
|
UTSW |
8 |
11,559,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4183:Naxd
|
UTSW |
8 |
11,552,757 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4618:Naxd
|
UTSW |
8 |
11,559,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5015:Naxd
|
UTSW |
8 |
11,563,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Naxd
|
UTSW |
8 |
11,552,676 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6947:Naxd
|
UTSW |
8 |
11,552,757 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7121:Naxd
|
UTSW |
8 |
11,556,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Naxd
|
UTSW |
8 |
11,561,987 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9352:Naxd
|
UTSW |
8 |
11,555,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9359:Naxd
|
UTSW |
8 |
11,562,968 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-05-07 |
Incidental Mutation