Incidental Mutation 'IGL02804:Nnt'
| ID |
360359 |
| 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: 0.177)
|
| Stock # |
IGL02804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 119518210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000069902
|
| SMART Domains |
Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000099149
|
| SMART Domains |
Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000109204
|
| SMART Domains |
Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
| 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 |
probably null
Transcript: ENSMUST00000223268
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,397,009 (GRCm39) |
I241N |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,107 (GRCm39) |
T501A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,258,512 (GRCm39) |
S985P |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,417,788 (GRCm39) |
S650T |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,387 (GRCm39) |
E286K |
possibly damaging |
Het |
| Card10 |
A |
G |
15: 78,686,649 (GRCm39) |
V56A |
probably damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,852,795 (GRCm39) |
V1361L |
probably benign |
Het |
| H2-Q10 |
G |
A |
17: 35,784,147 (GRCm39) |
G263R |
probably damaging |
Het |
| Herc4 |
A |
C |
10: 63,121,454 (GRCm39) |
K365Q |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,130,411 (GRCm39) |
H101R |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,082,159 (GRCm39) |
N255Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,467,643 (GRCm39) |
L756P |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,306 (GRCm39) |
S261P |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,314,161 (GRCm39) |
Y145H |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,713,385 (GRCm39) |
S69L |
probably damaging |
Het |
| Prkd2 |
C |
A |
7: 16,589,815 (GRCm39) |
R506S |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,268,204 (GRCm39) |
D102E |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,077,898 (GRCm39) |
|
probably benign |
Het |
| Snap23 |
T |
C |
2: 120,416,637 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,874,182 (GRCm39) |
|
probably benign |
Het |
| Speer4a2 |
T |
A |
5: 26,291,429 (GRCm39) |
K126* |
probably null |
Het |
| Strbp |
T |
C |
2: 37,514,498 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
G |
A |
17: 29,745,455 (GRCm39) |
L92F |
probably damaging |
Het |
| Troap |
G |
A |
15: 98,975,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,467 (GRCm39) |
M52V |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zbp1 |
T |
A |
2: 173,050,939 (GRCm39) |
K310N |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,285 (GRCm39) |
H332L |
probably benign |
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 |
|
IGL03082:Nnt
|
APN |
13 |
119,533,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation