Incidental Mutation 'R5461:Nnt'
ID |
433044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nnt
|
Ensembl Gene |
ENSMUSG00000025453 |
Gene Name |
nicotinamide nucleotide transhydrogenase |
Synonyms |
4930423F13Rik |
MMRRC Submission |
043023-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R5461 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 119505131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 414
(A414T)
|
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 |
possibly damaging
Transcript: ENSMUST00000069902
AA Change: A414T
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000070564 Gene: ENSMUSG00000025453 AA Change: A414T
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: A528T
|
SMART Domains |
Protein: ENSMUSP00000096753 Gene: ENSMUSG00000025453 AA Change: A528T
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: A528T
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104827 Gene: ENSMUSG00000025453 AA Change: A528T
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: A528T
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (57/57) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,643 (GRCm39) |
I405K |
possibly damaging |
Het |
4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,296,248 (GRCm39) |
W1079R |
probably damaging |
Het |
Arsa |
T |
C |
15: 89,357,478 (GRCm39) |
H495R |
probably benign |
Het |
Bptf |
T |
C |
11: 106,952,590 (GRCm39) |
T2088A |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,541,643 (GRCm39) |
L152P |
probably damaging |
Het |
C8a |
T |
C |
4: 104,673,042 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
G |
A |
12: 80,804,816 (GRCm39) |
A486V |
unknown |
Het |
Cpa2 |
A |
G |
6: 30,544,180 (GRCm39) |
T38A |
probably benign |
Het |
Crim1 |
T |
G |
17: 78,545,236 (GRCm39) |
C133G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,364,177 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,824,550 (GRCm39) |
Q2392* |
probably null |
Het |
Exoc2 |
C |
T |
13: 31,109,738 (GRCm39) |
S210N |
possibly damaging |
Het |
Gm7003 |
A |
G |
12: 113,766,847 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,245,863 (GRCm39) |
K2192R |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,053,010 (GRCm39) |
D176G |
probably damaging |
Het |
Ints10 |
G |
A |
8: 69,246,693 (GRCm39) |
E8K |
possibly damaging |
Het |
Itgb8 |
T |
C |
12: 119,131,740 (GRCm39) |
E635G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
G |
16: 22,897,887 (GRCm39) |
H429R |
probably benign |
Het |
Mcm3 |
T |
C |
1: 20,884,661 (GRCm39) |
I281V |
probably benign |
Het |
Msi1 |
T |
C |
5: 115,579,450 (GRCm39) |
S200P |
possibly damaging |
Het |
Nat3 |
T |
C |
8: 68,000,514 (GRCm39) |
L131P |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,104,177 (GRCm39) |
E1752G |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,786,370 (GRCm39) |
Q292* |
probably null |
Het |
Or51ah3 |
T |
A |
7: 103,209,780 (GRCm39) |
L32Q |
probably damaging |
Het |
Or52k2 |
G |
A |
7: 102,253,615 (GRCm39) |
G18D |
probably damaging |
Het |
Otop1 |
A |
T |
5: 38,457,059 (GRCm39) |
I273F |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,920,694 (GRCm39) |
N177K |
probably benign |
Het |
Pik3c2b |
C |
T |
1: 133,027,440 (GRCm39) |
T1313I |
possibly damaging |
Het |
Pikfyve |
C |
A |
1: 65,274,192 (GRCm39) |
D677E |
probably damaging |
Het |
Poc1a |
T |
C |
9: 106,165,209 (GRCm39) |
F157L |
probably damaging |
Het |
Prodh2 |
G |
T |
7: 30,193,948 (GRCm39) |
R185L |
possibly damaging |
Het |
Rcc1 |
T |
C |
4: 132,061,497 (GRCm39) |
I350M |
probably benign |
Het |
Rhd |
G |
A |
4: 134,611,928 (GRCm39) |
A249T |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,252 (GRCm39) |
Y57C |
probably damaging |
Het |
Shmt1 |
A |
G |
11: 60,685,725 (GRCm39) |
S284P |
possibly damaging |
Het |
Shpk |
T |
C |
11: 73,090,361 (GRCm39) |
V6A |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,262,836 (GRCm39) |
V661A |
probably benign |
Het |
Spesp1 |
A |
T |
9: 62,180,014 (GRCm39) |
L298Q |
probably damaging |
Het |
Tas1r2 |
C |
A |
4: 139,387,320 (GRCm39) |
Q231K |
probably benign |
Het |
Tcp11l1 |
T |
C |
2: 104,518,856 (GRCm39) |
Y280C |
probably benign |
Het |
Tnip1 |
T |
C |
11: 54,801,625 (GRCm39) |
|
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,192,395 (GRCm39) |
D295E |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,078,397 (GRCm39) |
L1521F |
probably damaging |
Het |
Usp10 |
T |
C |
8: 120,683,406 (GRCm39) |
I759T |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,759 (GRCm39) |
C24* |
probably null |
Het |
Vmn2r104 |
T |
A |
17: 20,250,343 (GRCm39) |
I643F |
probably damaging |
Het |
Wwc1 |
T |
A |
11: 35,758,199 (GRCm39) |
T716S |
probably damaging |
Het |
Zfp949 |
C |
T |
9: 88,451,537 (GRCm39) |
T369M |
probably benign |
Het |
Zhx3 |
A |
G |
2: 160,621,938 (GRCm39) |
V743A |
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 |
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 |
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'- AGACAAGTTTCTTCCCTTGGGG -3'
(R):5'- GGCGCTATACAAAGATATCTGAAG -3'
Sequencing Primer
(F):5'- GCATGACCAGATTGAAGTCTAAC -3'
(R):5'- CAGCTTAGGCTCTGACTA -3'
|
Posted On |
2016-10-06 |