Mutagenetix > Incidental Mutation

Incidental Mutation 'R4609:Nnt'

344541

Institutional Source

Beutler Lab

Gene Symbol

Nnt

Ensembl Gene

ENSMUSG00000025453

Gene Name

nicotinamide nucleotide transhydrogenase

Synonyms

4930423F13Rik

MMRRC Submission

041820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119472063-119545793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119494072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 556 (I556V)

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

possibly damaging
Transcript: ENSMUST00000069902
AA Change: I556V

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: I556V

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: I670V

SMART Domains

Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: I670V

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: I670V

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: I670V

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: I670V

Meta Mutation Damage Score

0.3644

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,378,370 (GRCm39)	D91G	unknown	Het
Adam10	T	C	9: 70,647,425 (GRCm39)	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,469,235 (GRCm39)	C183S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bmp1	C	T	14: 70,715,406 (GRCm39)	V910M	probably benign	Het
Brdt	G	A	5: 107,507,802 (GRCm39)	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,578 (GRCm39)	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267 (GRCm39)	D71V	possibly damaging	Het
Chml	A	T	1: 175,514,723 (GRCm39)	Y399*	probably null	Het
Cilk1	T	A	9: 78,075,071 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,430,765 (GRCm39)		probably benign	Het
Cntnap5b	G	A	1: 99,700,572 (GRCm39)		probably null	Het
Cpvl	A	T	6: 53,951,605 (GRCm39)		probably null	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,346,255 (GRCm39)	Y226C	probably damaging	Het
Dio3	G	T	12: 110,246,444 (GRCm39)	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,353,796 (GRCm39)	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,495,816 (GRCm39)	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999 (GRCm39)	Y223*	probably null	Het
Dpysl4	T	C	7: 138,678,537 (GRCm39)	V499A	probably damaging	Het
Ets2	A	T	16: 95,512,818 (GRCm39)	K101N	probably benign	Het
Fbn2	A	T	18: 58,323,341 (GRCm39)	Y200*	probably null	Het
Fem1c	A	T	18: 46,639,015 (GRCm39)	I329N	probably damaging	Het
Fhip1b	A	G	7: 105,037,431 (GRCm39)	I384T	probably damaging	Het
Gm8919	T	C	3: 11,724,530 (GRCm39)		noncoding transcript	Het
H2-Q5	A	T	17: 35,616,056 (GRCm39)	H206L	probably benign	Het
Hexa	T	C	9: 59,464,602 (GRCm39)	F164S	probably benign	Het
Hk1	G	T	10: 62,194,194 (GRCm39)		probably benign	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,475,292 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,630 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,763,013 (GRCm39)	H650Q	probably damaging	Het
Mief1	C	A	15: 80,132,454 (GRCm39)	P112Q	probably benign	Het
Morc3	A	G	16: 93,661,856 (GRCm39)	E472G	probably benign	Het
Nap1l1	T	A	10: 111,328,741 (GRCm39)	Y223*	probably null	Het
Nfix	A	T	8: 85,453,119 (GRCm39)	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,869,510 (GRCm39)	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,724,912 (GRCm39)	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,117,173 (GRCm39)	Y299F	probably benign	Het
Oasl2	A	T	5: 115,037,857 (GRCm39)	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,305,393 (GRCm39)	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,847,733 (GRCm39)	V431L	probably damaging	Het
Or4d5	T	C	9: 40,012,102 (GRCm39)	H228R	possibly damaging	Het
Or5p79	A	T	7: 108,221,711 (GRCm39)	M231L	probably benign	Het
Palb2	G	T	7: 121,723,946 (GRCm39)	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,638,849 (GRCm39)	M458I	probably benign	Het
Pde11a	T	C	2: 76,121,585 (GRCm39)	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,908,964 (GRCm39)	E347K	unknown	Het
Pou2af1	G	A	9: 51,149,525 (GRCm39)	V206I	possibly damaging	Het
Prr16	A	G	18: 51,251,139 (GRCm39)	D46G	possibly damaging	Het
Pus1	A	G	5: 110,928,184 (GRCm39)	M1T	probably null	Het
Pygm	T	A	19: 6,441,439 (GRCm39)	V566D	possibly damaging	Het
Rb1	T	A	14: 73,499,954 (GRCm39)		probably benign	Het
Rhoj	A	T	12: 75,446,980 (GRCm39)	K200*	probably null	Het
Rnf213	A	G	11: 119,328,521 (GRCm39)	I1985V	possibly damaging	Het
Septin11	G	T	5: 93,310,113 (GRCm39)	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,653,153 (GRCm39)	Y383C	probably damaging	Het
Sfpq	G	C	4: 126,915,404 (GRCm39)	Q65H	unknown	Het
Skic8	A	G	9: 54,635,463 (GRCm39)	V46A	probably benign	Het
Stard3nl	G	T	13: 19,554,434 (GRCm39)	A180E	probably damaging	Het
Tanc2	A	G	11: 105,801,066 (GRCm39)	N1094S	probably benign	Het
Trf	C	T	9: 103,089,184 (GRCm39)	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,388,476 (GRCm39)		probably benign	Het
Tubb3	A	G	8: 124,147,658 (GRCm39)	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,749,056 (GRCm39)	H135R	probably damaging	Het
Ugt1a10	A	T	1: 87,983,204 (GRCm39)	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 21,214,677 (GRCm39)	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,531 (GRCm39)	D580V	probably damaging	Het
Vps33b	A	G	7: 79,940,866 (GRCm39)	Y593C	probably benign	Het
Wdr19	A	G	5: 65,385,885 (GRCm39)	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,047,516 (GRCm39)	R853Q	probably damaging	Het
Xirp1	T	C	9: 119,845,572 (GRCm39)	T1104A	probably benign	Het
Yipf1	G	A	4: 107,201,880 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,809 (GRCm39)	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,344,055 (GRCm39)	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889 (GRCm39)	T1285M	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
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'- ATGAGTATGACCCAAGCCTGC -3'
(R):5'- GAAATGATTTTAGGAGCCACTGTTG -3'

Sequencing Primer
(F):5'- GTATGACCCAAGCCTGCATGAAATC -3'
(R):5'- GCTATTCTCAAGGAATTCCATGG -3'

Posted On

2015-09-25