Incidental Mutation 'IGL01776:Naxd'
| ID |
153874 |
| 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 # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
11547506-11563287 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 11555525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033901]
[ENSMUST00000177955]
[ENSMUST00000178721]
[ENSMUST00000178817]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
|
| Other mutations in Naxd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01983:Naxd
|
APN |
8 |
11,560,218 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation