Incidental Mutation 'R9184:Nnt'
| ID |
697264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nnt
|
| Ensembl Gene |
ENSMUSG00000025453 |
| Gene Name |
nicotinamide nucleotide transhydrogenase |
| Synonyms |
4930423F13Rik |
| MMRRC Submission |
068979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R9184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119518270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 302
(K302N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069902]
[ENSMUST00000099149]
[ENSMUST00000109204]
[ENSMUST00000223268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069902
AA Change: K302N
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: K302N
| 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: K302N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: K302N
| 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: K302N
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: K302N
| 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 |
probably damaging
Transcript: ENSMUST00000223268
AA Change: K302N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,233,901 (GRCm39) |
V199A |
unknown |
Het |
| Abca7 |
A |
G |
10: 79,838,690 (GRCm39) |
H621R |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,137,847 (GRCm39) |
N331I |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,621,152 (GRCm39) |
S475P |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,779 (GRCm39) |
V148A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,291,887 (GRCm39) |
L21P |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,214 (GRCm39) |
L692S |
probably damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,365,180 (GRCm39) |
V25A |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,730,512 (GRCm39) |
E244D |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,972,301 (GRCm39) |
F1368I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,919,308 (GRCm39) |
C680Y |
probably null |
Het |
| Chd1 |
T |
A |
17: 15,962,551 (GRCm39) |
N769K |
possibly damaging |
Het |
| Clasp1 |
T |
A |
1: 118,470,908 (GRCm39) |
V848E |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
G |
T |
14: 63,375,544 (GRCm39) |
G170V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,340,552 (GRCm39) |
K2320E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,036,592 (GRCm39) |
I3415F |
probably damaging |
Het |
| Fibcd1 |
A |
G |
2: 31,706,488 (GRCm39) |
S448P |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,805,542 (GRCm39) |
K71E |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,331 (GRCm39) |
V350I |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,368,311 (GRCm39) |
S1032T |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,509,007 (GRCm39) |
T326A |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 35,082,168 (GRCm39) |
R146H |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kcnk15 |
G |
A |
2: 163,700,606 (GRCm39) |
V282M |
probably benign |
Het |
| Klk1b8 |
A |
G |
7: 43,602,158 (GRCm39) |
N30S |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,540,911 (GRCm39) |
Y454* |
probably null |
Het |
| Mcam |
T |
C |
9: 44,046,545 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,596,182 (GRCm39) |
L1047S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,767 (GRCm39) |
I81T |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,958 (GRCm39) |
D105E |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,072,067 (GRCm39) |
L592P |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or4c103 |
C |
A |
2: 88,513,519 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,294 (GRCm39) |
I8F |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,138 (GRCm39) |
I151V |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,460 (GRCm39) |
I670F |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,962,143 (GRCm39) |
E75G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,249 (GRCm39) |
N1275K |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,048,321 (GRCm39) |
Q134K |
probably benign |
Het |
| Poli |
T |
A |
18: 70,642,250 (GRCm39) |
H650L |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,388,505 (GRCm39) |
P355L |
possibly damaging |
Het |
| Prkaca |
G |
A |
8: 84,717,305 (GRCm39) |
G194D |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,980,175 (GRCm39) |
Y371F |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,818,882 (GRCm38) |
|
probably benign |
Het |
| Rarb |
C |
T |
14: 16,818,881 (GRCm38) |
|
probably benign |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,269,393 (GRCm39) |
V42G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,834 (GRCm39) |
I41F |
possibly damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,630 (GRCm39) |
V602M |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,334,224 (GRCm39) |
S417P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,171 (GRCm39) |
D194E |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,056 (GRCm39) |
V112E |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,521,979 (GRCm39) |
M733K |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,241,726 (GRCm39) |
S1655L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,599,949 (GRCm39) |
I19075N |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,771,890 (GRCm39) |
T1437I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,822 (GRCm39) |
I159F |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,382,300 (GRCm39) |
V450A |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,743,475 (GRCm39) |
H314L |
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 |
|
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 |
|
|
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'- ATGTCATATTCTTGTTGGTCCTTTAGA -3'
(R):5'- AACTCTGTAGGGTTTATTTACAGCCA -3'
Sequencing Primer
(F):5'- GTTGGTCCTTTAGAGATACCAGTTAC -3'
(R):5'- CTGTATTAAAAGGTCGCAGCATCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation