Incidental Mutation 'R3921:Nnt'
ID |
315748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nnt
|
Ensembl Gene |
ENSMUSG00000025453 |
Gene Name |
nicotinamide nucleotide transhydrogenase |
Synonyms |
4930423F13Rik |
MMRRC Submission |
040818-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R3921 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119503030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 572
(T572S)
|
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: T458S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070564 Gene: ENSMUSG00000025453 AA Change: T458S
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: T572S
|
SMART Domains |
Protein: ENSMUSP00000096753 Gene: ENSMUSG00000025453 AA Change: T572S
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: T572S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104827 Gene: ENSMUSG00000025453 AA Change: T572S
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: T572S
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,659,498 (GRCm39) |
L317Q |
probably damaging |
Het |
Aebp2 |
C |
T |
6: 140,579,461 (GRCm39) |
R11C |
probably damaging |
Het |
Anxa8 |
T |
C |
14: 33,816,403 (GRCm39) |
F201L |
probably damaging |
Het |
Armh4 |
A |
G |
14: 50,011,659 (GRCm39) |
F16S |
probably benign |
Het |
Bcl7a |
A |
G |
5: 123,509,136 (GRCm39) |
N206S |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,934,014 (GRCm39) |
N2542D |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,331,488 (GRCm39) |
Y2562H |
probably damaging |
Het |
Dnah12 |
C |
G |
14: 26,493,008 (GRCm39) |
D1256E |
probably damaging |
Het |
Dnajb14 |
A |
T |
3: 137,610,613 (GRCm39) |
R280S |
probably damaging |
Het |
Dop1a |
A |
T |
9: 86,402,324 (GRCm39) |
I1173F |
probably benign |
Het |
Fam228a |
T |
C |
12: 4,781,506 (GRCm39) |
T118A |
probably benign |
Het |
Gata2 |
TGCCATGGGCTAGGCAAGCC |
TGCC |
6: 88,182,464 (GRCm39) |
|
probably null |
Het |
Hif3a |
T |
C |
7: 16,771,097 (GRCm39) |
D618G |
possibly damaging |
Het |
Ighv1-43 |
C |
A |
12: 114,909,772 (GRCm39) |
G50V |
probably benign |
Het |
Lrrc37a |
G |
T |
11: 103,392,296 (GRCm39) |
T1043N |
probably benign |
Het |
Masp2 |
T |
A |
4: 148,690,188 (GRCm39) |
D232E |
possibly damaging |
Het |
Ms4a4a |
A |
C |
19: 11,356,172 (GRCm39) |
Q19P |
probably benign |
Het |
Nckipsd |
A |
G |
9: 108,691,275 (GRCm39) |
E399G |
possibly damaging |
Het |
Olig3 |
A |
G |
10: 19,232,423 (GRCm39) |
D16G |
probably damaging |
Het |
Or4a74 |
C |
T |
2: 89,439,853 (GRCm39) |
V198I |
probably benign |
Het |
Or5p57 |
T |
A |
7: 107,665,108 (GRCm39) |
D299V |
possibly damaging |
Het |
Polr2b |
T |
C |
5: 77,474,500 (GRCm39) |
Y446H |
probably damaging |
Het |
Prtg |
T |
C |
9: 72,755,629 (GRCm39) |
V277A |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,838,599 (GRCm39) |
Y857H |
probably damaging |
Het |
Serac1 |
T |
C |
17: 6,117,067 (GRCm39) |
D163G |
probably damaging |
Het |
Slc22a22 |
C |
A |
15: 57,119,940 (GRCm39) |
V197F |
probably benign |
Het |
Slc2a10 |
C |
T |
2: 165,357,521 (GRCm39) |
P394S |
probably benign |
Het |
Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
St7 |
A |
G |
6: 17,846,244 (GRCm39) |
N120D |
probably benign |
Het |
Sult2a6 |
C |
T |
7: 13,988,668 (GRCm39) |
V31M |
possibly damaging |
Het |
Taf3 |
T |
C |
2: 10,053,109 (GRCm39) |
T35A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,908 (GRCm39) |
I319T |
possibly damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
T |
TTGGATG |
15: 10,537,649 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
G |
5: 108,996,921 (GRCm39) |
Y116S |
probably benign |
Het |
Vstm2l |
A |
G |
2: 157,777,283 (GRCm39) |
T54A |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,851,337 (GRCm39) |
M153K |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,097 (GRCm39) |
P770L |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCACGTGCATTTCTTACCACAC -3'
(R):5'- ACTTGTCTGGCATCTGACCC -3'
Sequencing Primer
(F):5'- CACATGATGTACGACAGGATTGCAC -3'
(R):5'- CCAAGATGTCAAACGTTAGAG -3'
|
Posted On |
2015-05-15 |