Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00225:Nnt'

306786

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nnt

Ensembl Gene

ENSMUSG00000025453

Gene Name

nicotinamide nucleotide transhydrogenase

Synonyms

4930423F13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00225

Quality Score

Status

Chromosome

Chromosomal Location

119472063-119545793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119506533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 371 (N371K)

Ref Sequence

ENSEMBL: ENSMUSP00000070564 (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: N371K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: N371K

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: N485K

SMART Domains

Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: N485K

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

possibly damaging
Transcript: ENSMUST00000109204
AA Change: N485K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: N485K

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

unknown
Transcript: ENSMUST00000223268
AA Change: N485K

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Flii	T	C	11: 60,614,241 (GRCm39)	N93D	probably benign	Het
Gm8356	T	C	14: 17,693,287 (GRCm39)	K24E	probably damaging	Het
Hars1	G	A	18: 36,901,225 (GRCm39)	T409M	probably damaging	Het
Ivns1abp	A	G	1: 151,226,863 (GRCm39)		probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kdm4c	T	G	4: 74,263,804 (GRCm39)	V696G	probably benign	Het
Klrb1f	T	A	6: 129,030,138 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,371 (GRCm39)	V1399I	probably benign	Het
LTO1	G	A	7: 144,471,405 (GRCm39)	G86D	possibly damaging	Het
Mki67	A	G	7: 135,291,849 (GRCm39)	V3168A	probably benign	Het
Nf1	T	A	11: 79,286,731 (GRCm39)	I177K	probably damaging	Het
Or13a27	A	G	7: 139,925,123 (GRCm39)	Y260H	probably damaging	Het
Or5p52	C	T	7: 107,502,311 (GRCm39)	P129L	probably damaging	Het
Prkdc	G	T	16: 15,627,508 (GRCm39)	V3389L	possibly damaging	Het
Prr16	T	A	18: 51,436,192 (GRCm39)	Y224N	possibly damaging	Het
Ptgs1	G	A	2: 36,127,231 (GRCm39)	C39Y	probably damaging	Het
Sla	T	C	15: 66,654,479 (GRCm39)	D269G	possibly damaging	Het
Stk38l	T	A	6: 146,659,971 (GRCm39)	M1K	probably null	Het
Trim24	T	A	6: 37,880,583 (GRCm39)	N160K	possibly damaging	Het
Zfp451	A	G	1: 33,825,621 (GRCm39)		probably benign	Het

Other mutations in Nnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16