Incidental Mutation 'R0839:Nnt'
ID |
78127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nnt
|
Ensembl Gene |
ENSMUSG00000025453 |
Gene Name |
nicotinamide nucleotide transhydrogenase |
Synonyms |
4930423F13Rik |
MMRRC Submission |
039018-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R0839 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119531192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 185
(I185K)
|
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: I185K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070564 Gene: ENSMUSG00000025453 AA Change: I185K
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 |
possibly damaging
Transcript: ENSMUST00000099149
AA Change: I185K
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096753 Gene: ENSMUSG00000025453 AA Change: I185K
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: I185K
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104827 Gene: ENSMUSG00000025453 AA Change: I185K
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 |
noncoding transcript
Transcript: ENSMUST00000133627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144599
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223268
AA Change: I185K
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,920,527 (GRCm39) |
V1083M |
probably damaging |
Het |
Aco2 |
A |
G |
15: 81,791,736 (GRCm39) |
|
probably null |
Het |
AI661453 |
A |
T |
17: 47,747,752 (GRCm39) |
Q8L |
probably null |
Het |
Ankrd42 |
T |
C |
7: 92,261,980 (GRCm39) |
D295G |
possibly damaging |
Het |
Ccdc73 |
A |
T |
2: 104,821,442 (GRCm39) |
I464L |
probably benign |
Het |
Cdc5l |
A |
C |
17: 45,704,073 (GRCm39) |
M717R |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,271,015 (GRCm39) |
P809S |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,167,459 (GRCm39) |
M358T |
possibly damaging |
Het |
Dgkz |
A |
G |
2: 91,765,456 (GRCm39) |
S799P |
probably benign |
Het |
Dna2 |
T |
C |
10: 62,805,561 (GRCm39) |
C933R |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,729,188 (GRCm39) |
N1275S |
probably benign |
Het |
Ect2l |
A |
G |
10: 18,017,652 (GRCm39) |
I659T |
probably benign |
Het |
Ets1 |
T |
A |
9: 32,645,357 (GRCm39) |
Y201* |
probably null |
Het |
Gle1 |
T |
A |
2: 29,848,462 (GRCm39) |
C679S |
probably benign |
Het |
Gm10118 |
T |
G |
10: 63,762,643 (GRCm39) |
|
probably benign |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
H2-Q7 |
A |
G |
17: 35,658,688 (GRCm39) |
S109G |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,882,418 (GRCm39) |
V2809A |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,276,536 (GRCm39) |
D366E |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,176,872 (GRCm39) |
M1L |
possibly damaging |
Het |
Lct |
C |
T |
1: 128,214,346 (GRCm39) |
A1809T |
probably benign |
Het |
Manea |
T |
C |
4: 26,327,983 (GRCm39) |
I353V |
probably damaging |
Het |
Mybl2 |
T |
C |
2: 162,917,688 (GRCm39) |
Y65H |
probably benign |
Het |
Myh11 |
C |
T |
16: 14,021,042 (GRCm39) |
E1744K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,560 (GRCm39) |
D1922G |
probably damaging |
Het |
Nepro |
C |
A |
16: 44,556,382 (GRCm39) |
D513E |
probably benign |
Het |
Npat |
A |
T |
9: 53,456,480 (GRCm39) |
Q17L |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,175,071 (GRCm39) |
E956G |
possibly damaging |
Het |
Or1e35 |
T |
A |
11: 73,798,138 (GRCm39) |
Y60F |
probably damaging |
Het |
Or1x6 |
A |
G |
11: 50,939,254 (GRCm39) |
I107V |
probably benign |
Het |
Or2a14 |
T |
A |
6: 43,130,558 (GRCm39) |
F106L |
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,583,545 (GRCm39) |
V118A |
probably damaging |
Het |
Or8g18 |
A |
T |
9: 39,149,146 (GRCm39) |
N191K |
possibly damaging |
Het |
Or8g4 |
A |
T |
9: 39,661,687 (GRCm39) |
I2L |
probably benign |
Het |
Or9e1 |
G |
A |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
Pah |
T |
C |
10: 87,357,924 (GRCm39) |
S16P |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,462,614 (GRCm39) |
P1365Q |
probably null |
Het |
Pds5b |
G |
T |
5: 150,688,427 (GRCm39) |
V640F |
probably benign |
Het |
Pgam5 |
A |
T |
5: 110,414,996 (GRCm39) |
H72Q |
probably benign |
Het |
Plagl2 |
C |
A |
2: 153,074,461 (GRCm39) |
A147S |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,256,545 (GRCm39) |
L113Q |
probably null |
Het |
Ppp1r12a |
T |
C |
10: 108,034,722 (GRCm39) |
V89A |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,028,870 (GRCm39) |
Y443H |
possibly damaging |
Het |
Ralgapb |
T |
C |
2: 158,315,203 (GRCm39) |
|
probably null |
Het |
Rgsl1 |
A |
G |
1: 153,677,980 (GRCm39) |
|
probably null |
Het |
Rubcn |
A |
C |
16: 32,647,713 (GRCm39) |
I681M |
probably damaging |
Het |
Scaf11 |
A |
G |
15: 96,321,434 (GRCm39) |
L169S |
probably damaging |
Het |
Scgb1b27 |
A |
G |
7: 33,721,276 (GRCm39) |
K55E |
probably benign |
Het |
Sos1 |
A |
T |
17: 80,741,159 (GRCm39) |
I542N |
probably damaging |
Het |
Syf2 |
T |
A |
4: 134,663,374 (GRCm39) |
V182D |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,144,717 (GRCm39) |
V271A |
probably benign |
Het |
Tmem33 |
T |
A |
5: 67,421,651 (GRCm39) |
L60Q |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,284 (GRCm39) |
V263A |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,806,020 (GRCm39) |
V798A |
probably benign |
Het |
Zfp384 |
C |
A |
6: 125,013,631 (GRCm39) |
D550E |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTACGCAGACCCTCAGACAGC -3'
(R):5'- TGGGGAGACCAGGTTCACTGTAAAG -3'
Sequencing Primer
(F):5'- CTCAGACAGCTACTTTCTTTGATAGG -3'
(R):5'- TGTAGCTGTCACAGATGACC -3'
|
Posted On |
2013-10-16 |