Incidental Mutation 'R6137:Nnt'
| ID |
488424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nnt
|
| Ensembl Gene |
ENSMUSG00000025453 |
| Gene Name |
nicotinamide nucleotide transhydrogenase |
| Synonyms |
4930423F13Rik |
| MMRRC Submission |
044284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R6137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119472864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 699
(M699L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069902]
[ENSMUST00000099149]
[ENSMUST00000223268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069902
AA Change: M699L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: M699L
| 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: M813L
|
| SMART Domains |
Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: M813L
| 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 |
unknown
Transcript: ENSMUST00000223268
AA Change: M813L
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
G |
T |
7: 130,959,342 (GRCm39) |
H165Q |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,327,164 (GRCm39) |
F721Y |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,137 (GRCm39) |
D1517V |
probably damaging |
Het |
| Amigo3 |
T |
A |
9: 107,930,927 (GRCm39) |
S117T |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,019,275 (GRCm39) |
N34K |
probably damaging |
Het |
| Cacnb1 |
A |
C |
11: 97,896,608 (GRCm39) |
V351G |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,532,660 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
C |
T |
9: 108,918,483 (GRCm39) |
T24I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,270,291 (GRCm39) |
Y618F |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,978,950 (GRCm39) |
W1271R |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,296,176 (GRCm39) |
T386A |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,414,313 (GRCm39) |
D834V |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,103 (GRCm39) |
V933E |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 117,916,480 (GRCm39) |
F4203S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,177,156 (GRCm39) |
L2000P |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,316,097 (GRCm39) |
H444Q |
probably benign |
Het |
| Fbxw14 |
T |
A |
9: 109,105,290 (GRCm39) |
T292S |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,431,055 (GRCm39) |
S237P |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,676 (GRCm39) |
I1323T |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,471,313 (GRCm39) |
F652L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,456 (GRCm39) |
M142L |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,886 (GRCm39) |
Q503R |
possibly damaging |
Het |
| Ighv5-17 |
A |
G |
12: 113,822,915 (GRCm39) |
Y69H |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,452,543 (GRCm39) |
N242S |
probably benign |
Het |
| Immp1l |
G |
C |
2: 105,794,553 (GRCm39) |
G117A |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,822,413 (GRCm39) |
V10A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,322,883 (GRCm39) |
K679E |
possibly damaging |
Het |
| Kng1 |
T |
C |
16: 22,893,395 (GRCm39) |
V256A |
possibly damaging |
Het |
| Lamc2 |
T |
G |
1: 153,041,899 (GRCm39) |
R78S |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,587,232 (GRCm39) |
F621S |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,339,919 (GRCm39) |
Y329H |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,363,455 (GRCm39) |
D225G |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,133,027 (GRCm39) |
F441L |
probably damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,022,196 (GRCm39) |
M144K |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,894 (GRCm39) |
M75L |
probably benign |
Het |
| Or5al6 |
A |
G |
2: 85,976,313 (GRCm39) |
V255A |
probably benign |
Het |
| Or6z6 |
T |
C |
7: 6,491,844 (GRCm39) |
T3A |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,699,113 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prps1l3 |
A |
G |
12: 57,285,674 (GRCm39) |
I155V |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 149,976,744 (GRCm39) |
N24K |
probably benign |
Het |
| Ralgds |
A |
T |
2: 28,437,600 (GRCm39) |
M514L |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,398,070 (GRCm39) |
V254D |
probably damaging |
Het |
| Selenot |
A |
T |
3: 58,492,705 (GRCm39) |
Q64L |
probably damaging |
Het |
| Sgsm2 |
G |
A |
11: 74,741,677 (GRCm39) |
R1037W |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,592,754 (GRCm39) |
V10A |
probably benign |
Het |
| Spem2 |
G |
T |
11: 69,707,522 (GRCm39) |
S481* |
probably null |
Het |
| Styk1 |
C |
T |
6: 131,287,979 (GRCm39) |
G128D |
probably damaging |
Het |
| Tex54 |
A |
T |
19: 8,718,148 (GRCm39) |
D6V |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,667,154 (GRCm39) |
L148Q |
probably damaging |
Het |
| Tmem138 |
A |
C |
19: 10,552,199 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,555,267 (GRCm39) |
V772A |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,626,821 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Tuba4a |
C |
A |
1: 75,192,699 (GRCm39) |
C305F |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,262 (GRCm39) |
F159V |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,996,882 (GRCm39) |
I129T |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,309,298 (GRCm39) |
M828K |
unknown |
Het |
| Zfp236 |
A |
T |
18: 82,689,919 (GRCm39) |
S187T |
possibly 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 |
|
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 |
|
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'- AATCTCCATTGTTTTGTGAGGC -3'
(R):5'- ACCTGTGCCTTGTATCTGTG -3'
Sequencing Primer
(F):5'- AGGCTTCTTTGGGTCTTGAGAGC -3'
(R):5'- CTAGCTCGTCCTGTCAAA -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation