Incidental Mutation 'R1642:Nnt'
| ID |
173632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nnt
|
| Ensembl Gene |
ENSMUSG00000025453 |
| Gene Name |
nicotinamide nucleotide transhydrogenase |
| Synonyms |
4930423F13Rik |
| MMRRC Submission |
039678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R1642 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
119472063-119545793 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 119541086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069902]
[ENSMUST00000069902]
[ENSMUST00000099149]
[ENSMUST00000099149]
[ENSMUST00000109204]
[ENSMUST00000109204]
[ENSMUST00000223268]
[ENSMUST00000223268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069902
|
| SMART Domains |
Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000069902
|
| SMART Domains |
Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000099149
|
| SMART Domains |
Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000099149
|
| SMART Domains |
Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000109204
|
| SMART Domains |
Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000109204
|
| SMART Domains |
Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
| 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 null
Transcript: ENSMUST00000223268
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223268
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,862,233 (GRCm39) |
V19A |
probably benign |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,774 (GRCm39) |
Y210H |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,769,882 (GRCm39) |
I327N |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,109,107 (GRCm39) |
N688Y |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,947,382 (GRCm39) |
K457R |
probably benign |
Het |
| Acsm2 |
A |
T |
7: 119,162,860 (GRCm39) |
N45Y |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,373,917 (GRCm39) |
S108P |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,060,588 (GRCm39) |
M174K |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,867 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
G |
A |
2: 143,683,683 (GRCm39) |
R214W |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,532,107 (GRCm39) |
D566G |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,073,401 (GRCm39) |
I341V |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,153 (GRCm39) |
D349V |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,406,399 (GRCm39) |
I18F |
unknown |
Het |
| Degs2 |
C |
T |
12: 108,658,451 (GRCm39) |
C176Y |
probably benign |
Het |
| Dhx16 |
A |
T |
17: 36,201,957 (GRCm39) |
T995S |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,679,415 (GRCm39) |
C521S |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,203 (GRCm39) |
S532P |
probably benign |
Het |
| Dpysl4 |
T |
G |
7: 138,670,254 (GRCm39) |
M124R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,001 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
A |
T |
1: 68,370,393 (GRCm39) |
V395D |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,406 (GRCm39) |
D460G |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,305,634 (GRCm39) |
H247Y |
probably benign |
Het |
| Fsbp |
T |
A |
4: 11,583,965 (GRCm39) |
S221R |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,929 (GRCm39) |
N198K |
possibly damaging |
Het |
| Gemin5 |
G |
T |
11: 58,029,906 (GRCm39) |
H855Q |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,535 (GRCm39) |
E103G |
probably benign |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,471 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
C |
A |
5: 24,757,686 (GRCm39) |
R177L |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,898,183 (GRCm39) |
R1646W |
probably damaging |
Het |
| Klri2 |
A |
T |
6: 129,715,837 (GRCm39) |
C121S |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,806,008 (GRCm39) |
Y703C |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,788 (GRCm39) |
N154S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,317 (GRCm39) |
F812L |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,380,010 (GRCm39) |
Y1564C |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,485 (GRCm39) |
M23V |
probably benign |
Het |
| Nolc1 |
G |
C |
19: 46,067,461 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
T |
8: 32,314,536 (GRCm39) |
M289K |
probably benign |
Het |
| Oas3 |
G |
T |
5: 120,915,639 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or10h1 |
A |
G |
17: 33,418,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2z2 |
A |
G |
11: 58,346,664 (GRCm39) |
I37T |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,201 (GRCm39) |
K6E |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,650 (GRCm39) |
R122H |
possibly damaging |
Het |
| Parp9 |
T |
C |
16: 35,788,067 (GRCm39) |
Y612H |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,332,283 (GRCm39) |
M240K |
possibly damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,533,987 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,366,518 (GRCm39) |
V42A |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,540,134 (GRCm39) |
V172M |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,150 (GRCm39) |
|
silent |
Het |
| Prop1 |
A |
G |
11: 50,844,152 (GRCm39) |
V27A |
possibly damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,242 (GRCm39) |
T295A |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,203,517 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
G |
19: 41,860,176 (GRCm39) |
F1016L |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,514,041 (GRCm39) |
I242F |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,032,160 (GRCm39) |
H655L |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,298,694 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Triobp |
C |
A |
15: 78,886,348 (GRCm39) |
R1830S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,880,930 (GRCm39) |
I285V |
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 |
|
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'- CCACCACCAGGTCCATTAGAAAAGAG -3'
(R):5'- TTTTGTGTGCTCAGATGACAAGGTAACT -3'
Sequencing Primer
(F):5'- AACACTCCTTTGTGTTTTCGTTG -3'
(R):5'- GTAATCCACCTTCAAGGAATTGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation