Mutagenetix > Incidental Mutation

Incidental Mutation 'R0294:Nnt'

26309

Institutional Source

Beutler Lab

Gene Symbol

Nnt

Ensembl Gene

ENSMUSG00000025453

Gene Name

nicotinamide nucleotide transhydrogenase

Synonyms

4930423F13Rik

MMRRC Submission

038511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R0294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119472063-119545793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119472803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 719 (Y719F)

Ref Sequence

ENSEMBL: ENSMUSP00000070564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069902] [ENSMUST00000099149] [ENSMUST00000223268]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069902
AA Change: Y719F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: Y719F

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: Y833F

SMART Domains

Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: Y833F

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: Y833F

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Aadat	A	G	8: 60,987,642 (GRCm39)	E319G	possibly damaging	Het
Abca13	A	G	11: 9,219,122 (GRCm39)		probably null	Het
Actl7b	A	T	4: 56,740,848 (GRCm39)	L170Q	possibly damaging	Het
Adam29	C	A	8: 56,326,311 (GRCm39)	V48L	probably benign	Het
Aknad1	A	G	3: 108,682,508 (GRCm39)	Y528C	probably damaging	Het
Alas1	T	A	9: 106,118,455 (GRCm39)	K222N	probably damaging	Het
Aplf	A	G	6: 87,623,227 (GRCm39)	V284A	probably benign	Het
Atp11a	G	A	8: 12,877,524 (GRCm39)	V317M	probably benign	Het
Bub3	A	G	7: 131,169,953 (GRCm39)	E206G	possibly damaging	Het
Cblb	T	G	16: 51,956,187 (GRCm39)	F263L	probably damaging	Het
Ces2h	T	A	8: 105,743,236 (GRCm39)	M157K	probably benign	Het
Cfh	A	G	1: 140,110,999 (GRCm39)	F6L	probably benign	Het
Chst1	G	T	2: 92,443,987 (GRCm39)	R153L	probably damaging	Het
Cimap2	T	C	4: 106,470,361 (GRCm39)	D232G	probably damaging	Het
Cntnap5a	T	A	1: 115,843,046 (GRCm39)	N121K	probably benign	Het
Crybg1	A	T	10: 43,862,372 (GRCm39)	S1467R	probably damaging	Het
Cyp2d22	A	G	15: 82,258,646 (GRCm39)	F72L	possibly damaging	Het
Dmrt2	C	T	19: 25,655,435 (GRCm39)	P345S	probably damaging	Het
Dock8	T	C	19: 25,165,714 (GRCm39)	I1866T	probably damaging	Het
Egfem1	A	G	3: 29,744,270 (GRCm39)	N503S	probably damaging	Het
Ehbp1	T	C	11: 22,045,427 (GRCm39)	D774G	probably benign	Het
Foxp2	C	A	6: 15,376,773 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,547 (GRCm39)	V99A	possibly damaging	Het
Grm1	A	T	10: 10,956,143 (GRCm39)	I47N	probably damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Hsdl2	T	A	4: 59,601,408 (GRCm39)	S127T	probably benign	Het
Il5ra	A	T	6: 106,689,362 (GRCm39)	M410K	probably benign	Het
Ints7	A	G	1: 191,344,003 (GRCm39)	S548G	possibly damaging	Het
Kcnt1	A	G	2: 25,778,122 (GRCm39)	E80G	probably damaging	Het
Lgr6	T	A	1: 135,032,799 (GRCm39)	Q27L	unknown	Het
Lgr6	A	G	1: 134,915,629 (GRCm39)	V373A	probably damaging	Het
Map3k14	T	C	11: 103,117,963 (GRCm39)	I610V	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Metap1d	T	A	2: 71,352,889 (GRCm39)	H239Q	probably benign	Het
Mgst2	A	G	3: 51,589,251 (GRCm39)	Y88C	probably damaging	Het
Mroh4	T	C	15: 74,477,998 (GRCm39)	N903D	probably benign	Het
Nbeal2	T	G	9: 110,461,927 (GRCm39)	D1476A	probably damaging	Het
Nlgn1	C	A	3: 26,187,625 (GRCm39)	A87S	probably benign	Het
Nln	C	T	13: 104,189,087 (GRCm39)	G295S	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51b17	A	T	7: 103,542,137 (GRCm39)	H268Q	probably benign	Het
Or52s6	G	A	7: 103,092,291 (GRCm39)	T13I	possibly damaging	Het
Or5p78	A	T	7: 108,212,357 (GRCm39)	Y281F	probably damaging	Het
Or9g4	A	G	2: 85,505,060 (GRCm39)	V145A	probably damaging	Het
Otogl	C	T	10: 107,613,089 (GRCm39)	C2041Y	probably damaging	Het
Patj	G	T	4: 98,385,285 (GRCm39)	D300Y	probably damaging	Het
Pkhd1l1	A	T	15: 44,423,831 (GRCm39)	E3124D	probably benign	Het
Plbd2	A	G	5: 120,625,514 (GRCm39)		probably null	Het
Pphln1	T	C	15: 93,318,171 (GRCm39)	Y57H	probably damaging	Het
Ppp1r16b	C	T	2: 158,588,523 (GRCm39)	T78M	probably damaging	Het
Prss40	T	G	1: 34,595,162 (GRCm39)	D224A	possibly damaging	Het
Senp6	A	G	9: 80,021,007 (GRCm39)		probably null	Het
Shank3	A	G	15: 89,416,301 (GRCm39)	E666G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a18	G	A	7: 143,046,578 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,161 (GRCm39)	C292R	probably damaging	Het
Spata31e5	T	C	1: 28,817,744 (GRCm39)	Q96R	probably benign	Het
Sphkap	T	A	1: 83,255,966 (GRCm39)	E594D	possibly damaging	Het
Srpra	T	A	9: 35,126,811 (GRCm39)	M61K	probably damaging	Het
Trmt10c	A	T	16: 55,855,240 (GRCm39)	Y132N	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
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
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'- TTGGGCAATGGCGACAGTACATAG -3'
(R):5'- AAGGCAGTGCTTTGAGCCTAGC -3'

Sequencing Primer
(F):5'- TACATAGGTAGGCGATGAGAATTTCC -3'
(R):5'- TGAGCCTAGCTCGTCCTG -3'

Posted On

2013-04-16