Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Nnt'

683120

Institutional Source

Beutler Lab

Gene Symbol

Nnt

Ensembl Gene

ENSMUSG00000025453

Gene Name

nicotinamide nucleotide transhydrogenase

Synonyms

4930423F13Rik

MMRRC Submission

068805-MU

Accession Numbers

Essential gene?

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

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119472063-119545793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119502967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 593 (W593R)

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

probably damaging
Transcript: ENSMUST00000069902
AA Change: W479R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: W479R

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: W593R

SMART Domains

Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: W593R

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 damaging
Transcript: ENSMUST00000109204
AA Change: W593R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: W593R

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: W593R

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,236,383 (GRCm39)	H44R	unknown	Het
Acp6	C	T	3: 97,078,961 (GRCm39)	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,033,404 (GRCm39)	N97S	possibly damaging	Het
Afm	T	A	5: 90,696,675 (GRCm39)	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,692,952 (GRCm39)	D927E	probably benign	Het
Ap2a2	T	C	7: 141,191,258 (GRCm39)	V275A	probably benign	Het
Arfgef2	A	T	2: 166,701,221 (GRCm39)	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,797,061 (GRCm39)	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,219,516 (GRCm39)	A193V		Het
Bicra	T	A	7: 15,721,481 (GRCm39)	I679L	probably benign	Het
Ccm2l	G	A	2: 152,909,756 (GRCm39)	R36H	probably damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Cela3a	C	T	4: 137,133,222 (GRCm39)	G50D	probably benign	Het
Cep152	T	A	2: 125,421,770 (GRCm39)	R987*	probably null	Het
Cnnm2	T	C	19: 46,845,362 (GRCm39)	V618A	probably benign	Het
Crim1	G	A	17: 78,653,409 (GRCm39)	R593Q	possibly damaging	Het
Ctsc	A	G	7: 87,959,024 (GRCm39)	S435G	probably benign	Het
Dcbld1	G	T	10: 52,195,958 (GRCm39)	A460S	probably benign	Het
Dcbld2	A	G	16: 58,276,715 (GRCm39)	E502G	probably benign	Het
Dhx30	A	T	9: 109,913,513 (GRCm39)	L1207*	probably null	Het
Dlx2	A	T	2: 71,376,716 (GRCm39)	S7R	possibly damaging	Het
Dmwd	T	A	7: 18,814,973 (GRCm39)	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,997,575 (GRCm39)	L588V	possibly damaging	Het
Dmxl1	C	T	18: 50,026,741 (GRCm39)	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,358,528 (GRCm39)	L3339*	probably null	Het
Elovl1	C	A	4: 118,288,709 (GRCm39)	P160Q	probably damaging	Het
Epg5	T	A	18: 78,022,434 (GRCm39)	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,402,777 (GRCm39)	S53F	probably benign	Het
Fat1	T	A	8: 45,495,331 (GRCm39)	C4140S	probably damaging	Het
Gria2	C	T	3: 80,615,200 (GRCm39)	V427I	probably damaging	Het
H2al2a	C	A	2: 18,001,537 (GRCm39)	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,684,858 (GRCm39)	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,312,033 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,822,987 (GRCm39)	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,332,273 (GRCm39)	D553E	probably damaging	Het
Kif3a	T	A	11: 53,474,189 (GRCm39)	L251Q	probably damaging	Het
Klb	T	A	5: 65,533,026 (GRCm39)	I445K	probably damaging	Het
Klhl29	T	A	12: 5,190,710 (GRCm39)		probably null	Het
Lipf	A	G	19: 33,942,273 (GRCm39)	K68E	probably benign	Het
Lnx2	T	A	5: 146,970,236 (GRCm39)	I169L	probably benign	Het
Lrba	A	C	3: 86,522,388 (GRCm39)	I2223L	probably benign	Het
Lrp1	C	T	10: 127,391,896 (GRCm39)	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,325,640 (GRCm39)	T926A		Het
Lrrc37a	T	A	11: 103,391,490 (GRCm39)	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,647,153 (GRCm39)	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,141 (GRCm39)	V122A	probably damaging	Het
Lsm14b	T	C	2: 179,667,107 (GRCm39)		probably null	Het
Magel2	A	C	7: 62,029,999 (GRCm39)	I968L	unknown	Het
Mapkbp1	T	C	2: 119,850,050 (GRCm39)	V771A	probably benign	Het
Mtmr4	T	C	11: 87,493,626 (GRCm39)	S295P	probably benign	Het
Nanos3	T	A	8: 84,902,815 (GRCm39)	T116S	probably benign	Het
Nectin3	T	C	16: 46,269,265 (GRCm39)	D379G	probably benign	Het
Nelfa	T	C	5: 34,093,539 (GRCm39)	H14R	possibly damaging	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Or4c115	T	A	2: 88,927,891 (GRCm39)	K127*	probably null	Het
Or52p1	A	T	7: 104,267,467 (GRCm39)	T194S	probably damaging	Het
Or5m13b	T	C	2: 85,754,328 (GRCm39)	S239P	probably damaging	Het
Or5w22	T	A	2: 87,362,580 (GRCm39)	C68S	probably benign	Het
Or6f1	T	A	7: 85,970,369 (GRCm39)	I264F	possibly damaging	Het
Palld	A	T	8: 61,969,735 (GRCm39)	D1196E	unknown	Het
Parl	A	G	16: 20,116,909 (GRCm39)	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,852,367 (GRCm39)	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,392,915 (GRCm39)	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,493,229 (GRCm39)	E712G	probably null	Het
Rasgrf2	T	C	13: 92,158,225 (GRCm39)	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,677,792 (GRCm39)	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,016,337 (GRCm39)		probably benign	Het
Rmnd5b	T	C	11: 51,515,322 (GRCm39)	S315G	probably benign	Het
Rp1l1	T	A	14: 64,259,445 (GRCm39)	V29E	probably damaging	Het
Sclt1	T	C	3: 41,681,541 (GRCm39)	T93A	probably benign	Het
Shroom1	T	A	11: 53,355,994 (GRCm39)	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,785 (GRCm39)	K545E	probably benign	Het
Slc20a2	C	T	8: 23,030,396 (GRCm39)	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,879,718 (GRCm39)	Y447C	probably damaging	Het
Slu7	C	A	11: 43,333,480 (GRCm39)	Q367K	probably benign	Het
Spen	T	C	4: 141,201,889 (GRCm39)	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,156,045 (GRCm39)	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,190,541 (GRCm39)	V530A		Het
Tnrc6c	T	C	11: 117,640,089 (GRCm39)	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 21,067,321 (GRCm39)	T170I	possibly damaging	Het
Vps29	A	G	5: 122,498,212 (GRCm39)	D51G	probably benign	Het
Washc2	T	C	6: 116,231,399 (GRCm39)	L874P	probably damaging	Het
Wdr5b	T	C	16: 35,861,926 (GRCm39)	L15P	probably benign	Het
Zscan20	T	A	4: 128,479,847 (GRCm39)	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,479,848 (GRCm39)	Q881P	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
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
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'- ACCAATAGATTTATTTCTGCTGCAAGC -3'
(R):5'- TGGCATCTGACCCACAGTTTA -3'

Sequencing Primer
(F):5'- TGCAAGCACATCCGCGTC -3'
(R):5'- GACTTTGACGGCTGCTATT -3'

Posted On

2021-10-11