Incidental Mutation 'IGL03082:Nnt'
| ID |
417905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nnt
|
| Ensembl Gene |
ENSMUSG00000025453 |
| Gene Name |
nicotinamide nucleotide transhydrogenase |
| Synonyms |
4930423F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
IGL03082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119533404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 87
(F87S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069902]
[ENSMUST00000099149]
[ENSMUST00000109204]
[ENSMUST00000223268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069902
AA Change: F87S
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: F87S
| Domain | Start | End | E-Value | Type |
|---|
|
AlaDh_PNT_N
|
60 |
199 |
3.35e-62 |
SMART |
|
AlaDh_PNT_C
|
208 |
377 |
5.76e-43 |
SMART |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
transmembrane domain
|
451 |
473 |
N/A |
INTRINSIC |
|
transmembrane domain
|
486 |
508 |
N/A |
INTRINSIC |
|
PDB:1U31|B
|
515 |
721 |
1e-145 |
PDB |
|
SCOP:d1d4oa_
|
542 |
718 |
1e-103 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099149
AA Change: F87S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: F87S
| Domain | Start | End | E-Value | Type |
|---|
|
AlaDh_PNT_N
|
60 |
199 |
3.35e-62 |
SMART |
|
AlaDh_PNT_C
|
208 |
375 |
1.27e-39 |
SMART |
|
transmembrane domain
|
395 |
412 |
N/A |
INTRINSIC |
|
Blast:AlaDh_PNT_C
|
436 |
491 |
3e-28 |
BLAST |
|
transmembrane domain
|
523 |
545 |
N/A |
INTRINSIC |
|
transmembrane domain
|
565 |
587 |
N/A |
INTRINSIC |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
PDB:1U31|B
|
629 |
835 |
1e-143 |
PDB |
|
SCOP:d1d4oa_
|
656 |
832 |
1e-102 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109204
AA Change: F87S
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: F87S
| Domain | Start | End | E-Value | Type |
|---|
|
AlaDh_PNT_N
|
60 |
199 |
3.35e-62 |
SMART |
|
AlaDh_PNT_C
|
208 |
375 |
1.27e-39 |
SMART |
|
transmembrane domain
|
395 |
412 |
N/A |
INTRINSIC |
|
Blast:AlaDh_PNT_C
|
436 |
491 |
2e-28 |
BLAST |
|
transmembrane domain
|
523 |
545 |
N/A |
INTRINSIC |
|
transmembrane domain
|
565 |
587 |
N/A |
INTRINSIC |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
PDB:1U31|B
|
629 |
709 |
9e-46 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144599
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223268
AA Change: F87S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene cause impaired glucose tolerance and loss of both glucose-dependent insulin secretion and ATP production in isolated pancreatic islets. Also, beta cells from ENU-induced mutants show enhanced glucose utilization and production of reactive oxygen species in response to glucose. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic1 |
T |
A |
15: 99,594,428 (GRCm39) |
N324K |
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,670 (GRCm39) |
E251G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,821,190 (GRCm39) |
K1109E |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chst1 |
C |
T |
2: 92,444,278 (GRCm39) |
T250I |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,753,760 (GRCm39) |
L406P |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,310,563 (GRCm39) |
M8V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,045,459 (GRCm39) |
E438G |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,077 (GRCm39) |
I71T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,935,802 (GRCm39) |
Y679N |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,660,836 (GRCm39) |
V284I |
possibly damaging |
Het |
| Fpgs |
C |
T |
2: 32,575,769 (GRCm39) |
W391* |
probably null |
Het |
| Hdac11 |
C |
T |
6: 91,150,085 (GRCm39) |
P295S |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,835,671 (GRCm39) |
I3260F |
probably benign |
Het |
| Hltf |
G |
A |
3: 20,118,723 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
G |
12: 41,160,900 (GRCm39) |
V66G |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,460,931 (GRCm39) |
I519T |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,029,661 (GRCm39) |
T402A |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,829,556 (GRCm39) |
I111L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,441,805 (GRCm39) |
I1987F |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,344,241 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,584,676 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
T |
9: 44,162,083 (GRCm39) |
S39T |
possibly damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,878 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,635,857 (GRCm39) |
I491N |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,473 (GRCm39) |
I311V |
probably damaging |
Het |
| Pou2f3 |
C |
A |
9: 43,058,212 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
G |
A |
1: 153,675,693 (GRCm39) |
T836I |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,002,072 (GRCm39) |
G328D |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,560 (GRCm39) |
E77G |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,809,234 (GRCm39) |
V74I |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,919,854 (GRCm39) |
|
probably null |
Het |
| Smco2 |
A |
G |
6: 146,761,542 (GRCm39) |
T154A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,706,422 (GRCm39) |
Y1033C |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,227,847 (GRCm39) |
F100S |
possibly damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,518 (GRCm39) |
F129S |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,945,336 (GRCm39) |
T315I |
probably damaging |
Het |
|
| Other mutations in Nnt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Nnt
|
APN |
13 |
119,506,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02021:Nnt
|
APN |
13 |
119,472,783 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02792:Nnt
|
APN |
13 |
119,494,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Nnt
|
APN |
13 |
119,518,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB001:Nnt
|
UTSW |
13 |
119,523,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Nnt
|
UTSW |
13 |
119,523,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Nnt
|
UTSW |
13 |
119,505,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Nnt
|
UTSW |
13 |
119,474,953 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0294:Nnt
|
UTSW |
13 |
119,472,803 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0530:Nnt
|
UTSW |
13 |
119,531,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Nnt
|
UTSW |
13 |
119,531,192 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1590:Nnt
|
UTSW |
13 |
119,523,197 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1642:Nnt
|
UTSW |
13 |
119,541,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3772:Nnt
|
UTSW |
13 |
119,533,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3835:Nnt
|
UTSW |
13 |
119,509,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3921:Nnt
|
UTSW |
13 |
119,503,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4106:Nnt
|
UTSW |
13 |
119,533,327 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4496:Nnt
|
UTSW |
13 |
119,518,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Nnt
|
UTSW |
13 |
119,494,072 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4897:Nnt
|
UTSW |
13 |
119,541,107 (GRCm39) |
nonsense |
probably null |
|
|
R5081:Nnt
|
UTSW |
13 |
119,502,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5461:Nnt
|
UTSW |
13 |
119,505,131 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5842:Nnt
|
UTSW |
13 |
119,531,283 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6053:Nnt
|
UTSW |
13 |
119,494,045 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6137:Nnt
|
UTSW |
13 |
119,472,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7134:Nnt
|
UTSW |
13 |
119,531,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7815:Nnt
|
UTSW |
13 |
119,494,111 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7831:Nnt
|
UTSW |
13 |
119,506,630 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7924:Nnt
|
UTSW |
13 |
119,523,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Nnt
|
UTSW |
13 |
119,511,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Nnt
|
UTSW |
13 |
119,511,212 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8356:Nnt
|
UTSW |
13 |
119,476,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Nnt
|
UTSW |
13 |
119,505,038 (GRCm39) |
missense |
unknown |
|
|
R8839:Nnt
|
UTSW |
13 |
119,494,173 (GRCm39) |
missense |
unknown |
|
|
R8860:Nnt
|
UTSW |
13 |
119,476,407 (GRCm39) |
missense |
|
|
|
R8971:Nnt
|
UTSW |
13 |
119,502,967 (GRCm39) |
missense |
unknown |
|
|
R9184:Nnt
|
UTSW |
13 |
119,518,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9243:Nnt
|
UTSW |
13 |
119,494,060 (GRCm39) |
missense |
unknown |
|
|
RF007:Nnt
|
UTSW |
13 |
119,533,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nnt
|
UTSW |
13 |
119,474,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nnt
|
UTSW |
13 |
119,491,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation