Incidental Mutation 'IGL00225:Nnt'
ID |
306786 |
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 # |
IGL00225
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119506533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 371
(N371K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069902]
[ENSMUST00000099149]
[ENSMUST00000109204]
[ENSMUST00000223268]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069902
AA Change: N371K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070564 Gene: ENSMUSG00000025453 AA Change: N371K
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 |
unknown
Transcript: ENSMUST00000099149
AA Change: N485K
|
SMART Domains |
Protein: ENSMUSP00000096753 Gene: ENSMUSG00000025453 AA Change: N485K
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 |
possibly damaging
Transcript: ENSMUST00000109204
AA Change: N485K
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104827 Gene: ENSMUSG00000025453 AA Change: N485K
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 |
unknown
Transcript: ENSMUST00000223268
AA Change: N485K
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Flii |
T |
C |
11: 60,614,241 (GRCm39) |
N93D |
probably benign |
Het |
Gm8356 |
T |
C |
14: 17,693,287 (GRCm39) |
K24E |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,901,225 (GRCm39) |
T409M |
probably damaging |
Het |
Ivns1abp |
A |
G |
1: 151,226,863 (GRCm39) |
|
probably null |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kdm4c |
T |
G |
4: 74,263,804 (GRCm39) |
V696G |
probably benign |
Het |
Klrb1f |
T |
A |
6: 129,030,138 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,325,371 (GRCm39) |
V1399I |
probably benign |
Het |
LTO1 |
G |
A |
7: 144,471,405 (GRCm39) |
G86D |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,291,849 (GRCm39) |
V3168A |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,286,731 (GRCm39) |
I177K |
probably damaging |
Het |
Or13a27 |
A |
G |
7: 139,925,123 (GRCm39) |
Y260H |
probably damaging |
Het |
Or5p52 |
C |
T |
7: 107,502,311 (GRCm39) |
P129L |
probably damaging |
Het |
Prkdc |
G |
T |
16: 15,627,508 (GRCm39) |
V3389L |
possibly damaging |
Het |
Prr16 |
T |
A |
18: 51,436,192 (GRCm39) |
Y224N |
possibly damaging |
Het |
Ptgs1 |
G |
A |
2: 36,127,231 (GRCm39) |
C39Y |
probably damaging |
Het |
Sla |
T |
C |
15: 66,654,479 (GRCm39) |
D269G |
possibly damaging |
Het |
Stk38l |
T |
A |
6: 146,659,971 (GRCm39) |
M1K |
probably null |
Het |
Trim24 |
T |
A |
6: 37,880,583 (GRCm39) |
N160K |
possibly damaging |
Het |
Zfp451 |
A |
G |
1: 33,825,621 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nnt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2015-04-16 |