Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Naxd'

440374

Institutional Source

Beutler Lab

Gene Symbol

Naxd

Ensembl Gene

ENSMUSG00000031505

Gene Name

NAD(P)HX dehydratase

Synonyms

0710008K08Rik, Carkd, 2810407E01Rik

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.571) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11497506-11514960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11502676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 32 (N32S)

Ref Sequence

ENSEMBL: ENSMUSP00000137488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033901] [ENSMUST00000177955] [ENSMUST00000178721] [ENSMUST00000178817]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033901
AA Change: N70S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: N70S

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Carb_kinase	94	356	6.2e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177955
AA Change: N32S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: N32S

Domain	Start	End	E-Value	Type
Pfam:Carb_kinase	56	319	2.5e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178364

Predicted Effect

probably benign
Transcript: ENSMUST00000178721
AA Change: N32S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505
AA Change: N32S

Domain	Start	End	E-Value	Type
Pfam:Carb_kinase	56	242	1.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178817
AA Change: N32S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505
AA Change: N32S

Domain	Start	End	E-Value	Type
Pfam:Carb_kinase	56	79	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209932

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933		probably benign	Het
Atp10d	A	G	5: 72,288,219	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385		probably benign	Het
Bms1	C	A	6: 118,388,825	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,438,306	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078	D644G	probably benign	Het
Lrrc6	A	T	15: 66,500,816		probably null	Het
Mdn1	C	T	4: 32,695,480	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528	M264T	probably damaging	Het
Nlrp12	A	T	7: 3,225,294	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188	K755*	probably null	Het
Olfr1501	C	T	19: 13,838,337	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192		probably null	Het
Ric3	G	A	7: 109,038,820	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829		probably null	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404		probably benign	Het
Stam	G	T	2: 14,117,427	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429	H605R	probably damaging	Het

Other mutations in Naxd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Naxd	APN	8	11,505,525 (GRCm38)	splice site	probably null
IGL01983:Naxd	APN	8	11,510,218 (GRCm38)	unclassified	probably benign
R0496:Naxd	UTSW	8	11,510,224 (GRCm38)	unclassified	probably benign
R2044:Naxd	UTSW	8	11,509,510 (GRCm38)	missense	probably benign	0.02
R4183:Naxd	UTSW	8	11,502,757 (GRCm38)	missense	probably damaging	0.97
R4618:Naxd	UTSW	8	11,509,489 (GRCm38)	missense	probably damaging	0.98
R5015:Naxd	UTSW	8	11,513,032 (GRCm38)	missense	probably damaging	1.00
R6947:Naxd	UTSW	8	11,502,757 (GRCm38)	missense	probably damaging	0.97
R7121:Naxd	UTSW	8	11,506,745 (GRCm38)	missense	probably damaging	1.00
R8178:Naxd	UTSW	8	11,511,987 (GRCm38)	missense	probably benign	0.44
R9352:Naxd	UTSW	8	11,505,504 (GRCm38)	missense	probably damaging	1.00
R9359:Naxd	UTSW	8	11,512,968 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTGCTATTAACCTGTCAGTCC -3'
(R):5'- ATCACTGCACATGGGTGGAC -3'

Sequencing Primer
(F):5'- GTCCTGACCATCACTTCCCCAAG -3'
(R):5'- CACATGGGTGGACGGACAG -3'

Posted On

2016-11-08