Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Nnt'

552940

Institutional Source

Beutler Lab

Gene Symbol

Nnt

Ensembl Gene

ENSMUSG00000025453

Gene Name

nicotinamide nucleotide transhydrogenase

Synonyms

4930423F13Rik

MMRRC Submission

045219-MU

Accession Numbers

Essential gene?

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

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119472063-119545793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119531198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

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

possibly damaging
Transcript: ENSMUST00000069902
AA Change: V183A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: V183A

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: V183A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: V183A

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: V183A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: V183A

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: V183A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,270,144 (GRCm39)	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,562,762 (GRCm39)	N159K	probably damaging	Het
Adam6a	T	G	12: 113,508,655 (GRCm39)	S343A	probably benign	Het
Ankrd17	G	A	5: 90,380,173 (GRCm39)	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,433,382 (GRCm39)	T728A	probably benign	Het
Asap2	G	T	12: 21,315,964 (GRCm39)	E919*	probably null	Het
Atp10b	A	T	11: 43,136,291 (GRCm39)	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,383 (GRCm39)	V209E	probably damaging	Het
Cfap65	C	T	1: 74,965,792 (GRCm39)	R406Q	probably benign	Het
Cldn1	T	C	16: 26,190,376 (GRCm39)	M1V	probably null	Het
Cryl1	C	T	14: 57,512,956 (GRCm39)	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,708,212 (GRCm39)		probably null	Het
D630044L22Rik	A	T	17: 26,181,090 (GRCm39)	M156L	probably benign	Het
Ddx21	T	C	10: 62,427,634 (GRCm39)	D423G	possibly damaging	Het
Dock2	T	A	11: 34,260,363 (GRCm39)	M993L	probably benign	Het
Dusp29	A	T	14: 21,727,129 (GRCm39)	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,500,252 (GRCm39)	A675V	probably damaging	Het
Eml1	C	T	12: 108,472,810 (GRCm39)	S206L	probably benign	Het
Farp2	A	C	1: 93,531,181 (GRCm39)	I560L	probably benign	Het
Fbn1	A	T	2: 125,223,969 (GRCm39)	D593E	probably benign	Het
Fetub	A	G	16: 22,748,007 (GRCm39)	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,576,641 (GRCm39)	K329E	probably benign	Het
Fpgt	T	C	3: 154,797,120 (GRCm39)	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,011,106 (GRCm39)	C574*	probably null	Het
Gm9747	G	T	1: 82,211,837 (GRCm39)	C12F	unknown	Het
H2-T23	T	C	17: 36,342,709 (GRCm39)	Y143C	probably damaging	Het
Hhip	A	T	8: 80,719,142 (GRCm39)	S462T	probably benign	Het
Hnf1a	C	T	5: 115,091,446 (GRCm39)	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,181,023 (GRCm39)	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,390,848 (GRCm39)	D395E	possibly damaging	Het
Marchf10	A	G	11: 105,299,502 (GRCm39)	S116P	probably benign	Het
Med12l	C	T	3: 59,001,180 (GRCm39)	Q748*	probably null	Het
Mroh7	T	A	4: 106,577,791 (GRCm39)	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,421,961 (GRCm39)	D61E	probably benign	Het
Muc5b	A	T	7: 141,411,391 (GRCm39)	I1446L	unknown	Het
Myh15	T	C	16: 48,901,705 (GRCm39)	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,330,655 (GRCm39)		probably null	Het
Napsa	A	G	7: 44,235,159 (GRCm39)	T315A	probably benign	Het
Nlrc5	A	T	8: 95,206,350 (GRCm39)	I734F	probably damaging	Het
Nploc4	A	T	11: 120,276,614 (GRCm39)	D477E	probably benign	Het
Nrip3	A	G	7: 109,364,695 (GRCm39)	S144P	probably damaging	Het
Ntng1	A	T	3: 109,842,445 (GRCm39)	F109L	probably benign	Het
Or5p61	A	G	7: 107,758,883 (GRCm39)	Y66H	probably damaging	Het
Or5v1	T	A	17: 37,809,776 (GRCm39)	V78D	probably damaging	Het
Or6aa1	G	A	7: 86,044,752 (GRCm39)		probably benign	Het
Or8b36	A	G	9: 37,937,795 (GRCm39)	E231G	probably benign	Het
Pacsin1	G	A	17: 27,921,707 (GRCm39)	D30N	probably damaging	Het
Pbld2	A	T	10: 62,860,368 (GRCm39)		probably benign	Het
Pcnx4	C	T	12: 72,613,750 (GRCm39)	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,763,246 (GRCm39)	T225S	probably benign	Het
Phyhip	T	G	14: 70,704,639 (GRCm39)	I286S	probably benign	Het
Pkd1	T	A	17: 24,813,086 (GRCm39)	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,942,698 (GRCm39)	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,593,662 (GRCm39)	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,109,390 (GRCm39)	A474V	probably benign	Het
Plppr3	T	C	10: 79,701,537 (GRCm39)	E435G	probably damaging	Het
Poln	T	A	5: 34,276,340 (GRCm39)	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874 (GRCm39)	T420A	probably benign	Het
Ppdpf	T	C	2: 180,829,523 (GRCm39)	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,768,485 (GRCm39)	T104K	probably damaging	Het
Ptprj	A	T	2: 90,294,822 (GRCm39)	L462H	probably benign	Het
Radil	T	C	5: 142,471,304 (GRCm39)	T991A	probably damaging	Het
Rbsn	T	C	6: 92,178,608 (GRCm39)	E147G	probably damaging	Het
Ror2	C	T	13: 53,300,742 (GRCm39)	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,599,373 (GRCm39)	Q18R	probably benign	Het
Setbp1	T	A	18: 78,902,734 (GRCm39)	D311V	possibly damaging	Het
Setd2	C	T	9: 110,377,865 (GRCm39)	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,816,878 (GRCm39)	I134F	probably damaging	Het
Speer1h	C	T	5: 11,647,706 (GRCm39)	T148I	possibly damaging	Het
Svil	A	G	18: 5,116,080 (GRCm39)	D2035G	probably damaging	Het
Syngap1	T	C	17: 27,178,985 (GRCm39)	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,519 (GRCm39)	Y547H	possibly damaging	Het
Tgm2	A	G	2: 157,980,812 (GRCm39)	V83A	probably benign	Het
Tmem233	T	C	5: 116,189,429 (GRCm39)	I117V	probably benign	Het
Tsen34	A	G	7: 3,703,640 (GRCm39)	T293A	probably damaging	Het
Ttn	A	G	2: 76,709,023 (GRCm39)	V8752A	unknown	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Uchl4	T	C	9: 64,142,621 (GRCm39)	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,608,435 (GRCm39)	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,897,749 (GRCm39)	T255S	probably benign	Het
Wdr6	T	A	9: 108,450,564 (GRCm39)	N988I	probably damaging	Het
Wnk1	A	T	6: 119,903,389 (GRCm39)	I2359N	unknown	Het
Ybey	A	G	10: 76,304,025 (GRCm39)	V59A	probably benign	Het
Zfp268	T	A	4: 145,349,375 (GRCm39)	C271S	possibly damaging	Het
Zfp397	A	G	18: 24,090,122 (GRCm39)	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788 (GRCm39)	V659E	probably 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
R6137:Nnt	UTSW	13	119,472,864 (GRCm39)	missense	possibly damaging	0.95
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'- GACCCTCAGACAGCTACTTTC -3'
(R):5'- AAACCACTGTGAAGGTGTTGG -3'

Sequencing Primer
(F):5'- CAGACAGCTACTTTCTTTGATAGGTG -3'
(R):5'- AAATCTGTGATTTGGCTCTCGTTTC -3'

Posted On

2019-05-15