Incidental Mutation 'IGL02965:Nudt6'
| ID |
365552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nudt6
|
| Ensembl Gene |
ENSMUSG00000050174 |
| Gene Name |
nudix hydrolase 6 |
| Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL02965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
37459126-37474391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37473655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 22
(L22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029277]
[ENSMUST00000052645]
[ENSMUST00000099130]
[ENSMUST00000108112]
[ENSMUST00000108117]
[ENSMUST00000108118]
[ENSMUST00000149449]
[ENSMUST00000141438]
[ENSMUST00000146324]
[ENSMUST00000198968]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029277
|
| SMART Domains |
Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
CDC48_N
|
44 |
135 |
2.47e-1 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
AAA
|
385 |
524 |
4.96e-21 |
SMART |
|
Blast:AAA
|
553 |
622 |
9e-21 |
BLAST |
|
AAA
|
659 |
797 |
2.48e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052645
AA Change: L22P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: L22P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FXT|H
|
42 |
131 |
1e-42 |
PDB |
|
Pfam:NUDIX
|
139 |
270 |
2.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099130
AA Change: L22P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: L22P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FXT|H
|
42 |
131 |
1e-42 |
PDB |
|
Pfam:NUDIX
|
139 |
269 |
7.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108112
|
| SMART Domains |
Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
CDC48_N
|
44 |
136 |
1.14e0 |
SMART |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
AAA
|
386 |
525 |
4.96e-21 |
SMART |
|
Blast:AAA
|
554 |
623 |
9e-21 |
BLAST |
|
AAA
|
660 |
798 |
2.48e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108117
AA Change: L22P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103752
Gene: ENSMUSG00000050174
AA Change: L22P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FXT|H
|
42 |
76 |
3e-7 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108118
AA Change: L22P
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: L22P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
73 |
202 |
1.7e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149449
AA Change: L22P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116572
Gene: ENSMUSG00000050174
AA Change: L22P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FXT|H
|
42 |
131 |
3e-44 |
PDB |
|
PDB:3H95|A
|
132 |
191 |
6e-22 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138949
AA Change: L20P
|
| SMART Domains |
Protein: ENSMUSP00000118428
Gene: ENSMUSG00000050174
AA Change: L20P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FXT|H
|
17 |
98 |
4e-30 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000198158
AA Change: L17P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141438
|
| SMART Domains |
Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3H95|A
|
2 |
97 |
5e-55 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146324
|
| SMART Domains |
Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
1 |
104 |
6.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198968
|
| SMART Domains |
Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
CDC48_N
|
44 |
136 |
8.6e-5 |
SMART |
|
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
AAA
|
386 |
525 |
8.2e-23 |
SMART |
|
Blast:AAA
|
554 |
623 |
7e-21 |
BLAST |
|
AAA
|
660 |
798 |
4e-23 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,439 (GRCm39) |
K1471R |
probably benign |
Het |
| Add1 |
A |
G |
5: 34,777,467 (GRCm39) |
S77G |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,364,863 (GRCm39) |
N2642K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,767,267 (GRCm39) |
M10K |
possibly damaging |
Het |
| Btd |
T |
A |
14: 31,389,193 (GRCm39) |
S305T |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,065 (GRCm39) |
V2008I |
probably benign |
Het |
| Cpd |
T |
G |
11: 76,681,814 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,217,766 (GRCm39) |
F772L |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,222,091 (GRCm39) |
I517N |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,161,661 (GRCm39) |
T34M |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,270,816 (GRCm39) |
V2235I |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,950,031 (GRCm39) |
I371T |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,813,398 (GRCm39) |
S3239N |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,273,343 (GRCm39) |
I297V |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,942,235 (GRCm39) |
E111G |
probably benign |
Het |
| Gdi1 |
G |
T |
X: 73,351,331 (GRCm39) |
A148S |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Hsp90aa1 |
A |
G |
12: 110,662,113 (GRCm39) |
M1T |
probably null |
Het |
| Il22b |
A |
G |
10: 118,130,762 (GRCm39) |
S45P |
probably damaging |
Het |
| Inppl1 |
C |
A |
7: 101,477,478 (GRCm39) |
V715F |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,225,991 (GRCm39) |
Y975C |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,338 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,432,492 (GRCm39) |
R175W |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,751,803 (GRCm39) |
D516G |
probably damaging |
Het |
| Mfsd3 |
A |
G |
15: 76,587,352 (GRCm39) |
H345R |
probably benign |
Het |
| Mlkl |
A |
T |
8: 112,058,469 (GRCm39) |
I162N |
probably benign |
Het |
| Mtnr1a |
A |
T |
8: 45,522,419 (GRCm39) |
N58I |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,951,774 (GRCm39) |
V499A |
probably damaging |
Het |
| Nxf7 |
T |
G |
X: 134,490,159 (GRCm39) |
E35A |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,653 (GRCm39) |
I289L |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,629 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
T |
18: 37,557,021 (GRCm39) |
V784L |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,637,560 (GRCm39) |
D156G |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,106,939 (GRCm39) |
D670G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,967,443 (GRCm39) |
H945Q |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,840,861 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
C |
T |
17: 50,362,280 (GRCm39) |
E273K |
probably benign |
Het |
| Rnf125 |
A |
G |
18: 21,116,168 (GRCm39) |
I117V |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,321,765 (GRCm39) |
K742R |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,440 (GRCm39) |
E37G |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,218 (GRCm39) |
I306L |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,506,081 (GRCm39) |
Y497* |
probably null |
Het |
| Snx27 |
C |
A |
3: 94,489,733 (GRCm39) |
V42L |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,365,187 (GRCm39) |
T199S |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,235,301 (GRCm39) |
Y72H |
probably benign |
Het |
| Spef2 |
G |
T |
15: 9,725,192 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
G |
T |
14: 73,816,871 (GRCm39) |
V204L |
probably benign |
Het |
| Tescl |
C |
A |
7: 24,033,098 (GRCm39) |
V76F |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,628 (GRCm39) |
Y2681N |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,713,769 (GRCm39) |
T2A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
A |
13: 18,205,431 (GRCm39) |
|
noncoding transcript |
Het |
| Wapl |
T |
A |
14: 34,461,181 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nudt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02629:Nudt6
|
APN |
3 |
37,459,320 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02975:Nudt6
|
APN |
3 |
37,473,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Nudt6
|
UTSW |
3 |
37,459,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1884:Nudt6
|
UTSW |
3 |
37,466,549 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1939:Nudt6
|
UTSW |
3 |
37,459,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Nudt6
|
UTSW |
3 |
37,466,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4416:Nudt6
|
UTSW |
3 |
37,459,378 (GRCm39) |
splice site |
probably null |
|
|
R4801:Nudt6
|
UTSW |
3 |
37,459,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4802:Nudt6
|
UTSW |
3 |
37,459,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5826:Nudt6
|
UTSW |
3 |
37,473,617 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6362:Nudt6
|
UTSW |
3 |
37,473,638 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7887:Nudt6
|
UTSW |
3 |
37,466,529 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-12-18 |
Incidental Mutation