Incidental Mutation 'R0530:Nnt'
ID |
49120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nnt
|
Ensembl Gene |
ENSMUSG00000025453 |
Gene Name |
nicotinamide nucleotide transhydrogenase |
Synonyms |
4930423F13Rik |
MMRRC Submission |
038722-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R0530 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 119531257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 163
(L163F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152868
(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: L163F
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000070564 Gene: ENSMUSG00000025453 AA Change: L163F
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 |
probably damaging
Transcript: ENSMUST00000099149
AA Change: L163F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096753 Gene: ENSMUSG00000025453 AA Change: L163F
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: L163F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104827 Gene: ENSMUSG00000025453 AA Change: L163F
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 |
probably damaging
Transcript: ENSMUST00000223268
AA Change: L163F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.5293 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
96% (51/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,083,920 (GRCm39) |
W617R |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,568 (GRCm39) |
C219S |
probably benign |
Het |
Cep83 |
A |
T |
10: 94,555,450 (GRCm39) |
|
probably benign |
Het |
Ces1e |
G |
A |
8: 93,946,149 (GRCm39) |
|
probably benign |
Het |
Ckap2 |
A |
G |
8: 22,665,988 (GRCm39) |
|
probably benign |
Het |
Clip1 |
C |
A |
5: 123,778,594 (GRCm39) |
R443L |
probably damaging |
Het |
Clmp |
A |
G |
9: 40,672,302 (GRCm39) |
D44G |
probably benign |
Het |
Cntnap2 |
G |
A |
6: 46,506,839 (GRCm39) |
Q304* |
probably null |
Het |
Cst7 |
A |
T |
2: 150,412,435 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
A |
T |
9: 111,311,789 (GRCm39) |
Y677F |
probably damaging |
Het |
Dlat |
G |
T |
9: 50,548,869 (GRCm39) |
N562K |
probably damaging |
Het |
Elmod1 |
A |
T |
9: 53,833,260 (GRCm39) |
Y182N |
probably damaging |
Het |
Fzd10 |
T |
C |
5: 128,679,077 (GRCm39) |
F266L |
probably damaging |
Het |
Gm8258 |
A |
G |
5: 104,923,952 (GRCm39) |
|
noncoding transcript |
Het |
Gm9742 |
T |
A |
13: 8,080,041 (GRCm39) |
|
noncoding transcript |
Het |
Hdlbp |
T |
C |
1: 93,358,039 (GRCm39) |
|
probably benign |
Het |
Itga8 |
A |
G |
2: 12,196,627 (GRCm39) |
S597P |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,481,153 (GRCm39) |
I80F |
probably damaging |
Het |
Ktn1 |
A |
G |
14: 47,970,700 (GRCm39) |
N1192S |
probably benign |
Het |
Ldha |
G |
A |
7: 46,503,417 (GRCm39) |
V270M |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,931,891 (GRCm39) |
|
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,769,256 (GRCm39) |
F954I |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,963,877 (GRCm39) |
N823S |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,419,895 (GRCm39) |
N2480K |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,977 (GRCm39) |
K121E |
probably benign |
Het |
Neurl1b |
T |
A |
17: 26,660,519 (GRCm39) |
|
probably null |
Het |
Or10v5 |
A |
G |
19: 11,805,556 (GRCm39) |
V278A |
probably benign |
Het |
Otog |
A |
G |
7: 45,947,668 (GRCm39) |
T2274A |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,459,848 (GRCm39) |
R561Q |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,269,264 (GRCm39) |
F453L |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,235,972 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
Prdx6b |
A |
G |
2: 80,123,659 (GRCm39) |
N156S |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,968,417 (GRCm39) |
S586G |
probably benign |
Het |
Serpina6 |
A |
T |
12: 103,618,053 (GRCm39) |
N253K |
probably damaging |
Het |
Slc12a2 |
T |
A |
18: 58,052,608 (GRCm39) |
V809D |
possibly damaging |
Het |
Slc2a8 |
C |
T |
2: 32,863,696 (GRCm39) |
A449T |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,701,939 (GRCm39) |
I116V |
probably null |
Het |
Synj2 |
T |
A |
17: 6,058,380 (GRCm39) |
S58R |
possibly damaging |
Het |
Tafa3 |
T |
C |
3: 104,679,487 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,965,831 (GRCm39) |
V463A |
probably damaging |
Het |
Uchl5 |
T |
C |
1: 143,670,082 (GRCm39) |
V105A |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,333,600 (GRCm39) |
|
probably benign |
Het |
Vmn1r200 |
T |
C |
13: 22,579,667 (GRCm39) |
S148P |
probably damaging |
Het |
Vmn2r50 |
A |
T |
7: 9,781,644 (GRCm39) |
M367K |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,632,570 (GRCm39) |
|
probably benign |
Het |
Wdr26 |
A |
T |
1: 181,013,635 (GRCm39) |
|
probably null |
Het |
Wdr87-ps |
A |
G |
7: 29,229,545 (GRCm39) |
|
noncoding transcript |
Het |
Ythdc2 |
T |
A |
18: 44,983,465 (GRCm39) |
M544K |
probably damaging |
Het |
Zpld2 |
A |
G |
4: 133,930,221 (GRCm39) |
I28T |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTCTATGAGTGCCGTGCTACCTC -3'
(R):5'- GCTCTGTAGCTGTCACAGATGACC -3'
Sequencing Primer
(F):5'- CGCTGTGGTTCTGGTCAAC -3'
(R):5'- TTGATGGAAGACCTCTCTCAGAAG -3'
|
Posted On |
2013-06-12 |