Incidental Mutation 'IGL02792:Nnt'
ID |
359793 |
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 # |
IGL02792
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119494182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 633
(L633P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104827
(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: L519P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070564 Gene: ENSMUSG00000025453 AA Change: L519P
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: L633P
|
SMART Domains |
Protein: ENSMUSP00000096753 Gene: ENSMUSG00000025453 AA Change: L633P
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 damaging
Transcript: ENSMUST00000109204
AA Change: L633P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104827 Gene: ENSMUSG00000025453 AA Change: L633P
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: L633P
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
G |
A |
17: 48,401,107 (GRCm39) |
V131M |
probably benign |
Het |
Abca6 |
A |
T |
11: 110,079,507 (GRCm39) |
C1216S |
probably damaging |
Het |
Acly |
T |
C |
11: 100,369,236 (GRCm39) |
K1018E |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,282,163 (GRCm39) |
|
probably null |
Het |
Adgrb1 |
C |
A |
15: 74,419,471 (GRCm39) |
L771I |
probably damaging |
Het |
Adh7 |
A |
T |
3: 137,929,498 (GRCm39) |
K89I |
probably damaging |
Het |
Adora2b |
A |
T |
11: 62,156,309 (GRCm39) |
I253F |
possibly damaging |
Het |
Akna |
G |
A |
4: 63,295,943 (GRCm39) |
P975S |
possibly damaging |
Het |
Alg9 |
T |
C |
9: 50,754,048 (GRCm39) |
L576P |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,761,218 (GRCm39) |
E1023G |
possibly damaging |
Het |
Astn2 |
A |
T |
4: 65,563,058 (GRCm39) |
S908T |
probably benign |
Het |
Atp1a4 |
C |
T |
1: 172,054,866 (GRCm39) |
|
probably null |
Het |
Cabin1 |
T |
C |
10: 75,582,573 (GRCm39) |
Y281C |
probably damaging |
Het |
Cdc42bpb |
G |
T |
12: 111,265,995 (GRCm39) |
F1312L |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,966,337 (GRCm39) |
F330C |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,233,820 (GRCm39) |
P689S |
unknown |
Het |
Col4a3 |
A |
T |
1: 82,696,524 (GRCm39) |
K1643N |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,598,460 (GRCm39) |
V1875D |
possibly damaging |
Het |
Eftud2 |
A |
G |
11: 102,761,082 (GRCm39) |
|
probably benign |
Het |
Ergic3 |
C |
A |
2: 155,859,770 (GRCm39) |
T357K |
probably damaging |
Het |
Glra1 |
A |
T |
11: 55,427,226 (GRCm39) |
D36E |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 35,001,018 (GRCm39) |
Y330H |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,236,602 (GRCm39) |
S382P |
probably damaging |
Het |
Kat6a |
G |
A |
8: 23,428,316 (GRCm39) |
E1224K |
probably damaging |
Het |
Klk13 |
A |
G |
7: 43,370,838 (GRCm39) |
E29G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,643 (GRCm39) |
D124G |
probably benign |
Het |
Lrmda |
T |
C |
14: 22,069,978 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
G |
A |
17: 75,589,989 (GRCm39) |
V539M |
probably damaging |
Het |
Ngfr |
A |
C |
11: 95,462,687 (GRCm39) |
L317R |
probably damaging |
Het |
Nlrp6 |
C |
A |
7: 140,502,348 (GRCm39) |
H151Q |
probably damaging |
Het |
Nxpe3 |
C |
T |
16: 55,686,535 (GRCm39) |
V158M |
probably damaging |
Het |
Or11i1 |
T |
C |
3: 106,729,456 (GRCm39) |
T140A |
probably damaging |
Het |
Or2d36 |
T |
C |
7: 106,747,425 (GRCm39) |
F301L |
probably benign |
Het |
Or7g16 |
C |
T |
9: 18,727,254 (GRCm39) |
S112N |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,850 (GRCm39) |
Y517C |
probably damaging |
Het |
Poc1a |
A |
T |
9: 106,172,393 (GRCm39) |
I207F |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,636,938 (GRCm39) |
S338P |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 22,959,722 (GRCm39) |
V73A |
probably damaging |
Het |
Relb |
A |
T |
7: 19,347,789 (GRCm39) |
L281Q |
probably damaging |
Het |
Rrp8 |
A |
T |
7: 105,383,018 (GRCm39) |
L382* |
probably null |
Het |
Setd1a |
C |
T |
7: 127,390,522 (GRCm39) |
S523F |
unknown |
Het |
Slamf8 |
A |
G |
1: 172,415,697 (GRCm39) |
I47T |
probably damaging |
Het |
Slc16a4 |
G |
A |
3: 107,206,193 (GRCm39) |
A88T |
probably benign |
Het |
Sox6 |
C |
T |
7: 115,140,884 (GRCm39) |
M532I |
probably benign |
Het |
Tcp11l1 |
T |
A |
2: 104,512,165 (GRCm39) |
Y489F |
probably benign |
Het |
Tdrd6 |
T |
G |
17: 43,935,918 (GRCm39) |
D1710A |
probably benign |
Het |
Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
Vangl1 |
A |
T |
3: 102,070,739 (GRCm39) |
I399N |
probably damaging |
Het |
Vmn1r201 |
T |
C |
13: 22,659,014 (GRCm39) |
L76P |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,414,228 (GRCm39) |
M1V |
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,817,262 (GRCm39) |
I1561V |
probably benign |
Het |
Xkr9 |
A |
G |
1: 13,771,027 (GRCm39) |
D181G |
probably damaging |
Het |
Zfp318 |
T |
C |
17: 46,720,104 (GRCm39) |
F1101L |
probably damaging |
Het |
Zfpm2 |
C |
A |
15: 40,966,409 (GRCm39) |
Q833K |
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 |
|
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 |
2015-12-18 |