Mutagenetix > Incidental Mutation

Incidental Mutation 'R9359:Naxd'

708577

Institutional Source

Beutler Lab

Gene Symbol

Naxd

Ensembl Gene

ENSMUSG00000031505

Gene Name

NAD(P)HX dehydratase

Synonyms

0710008K08Rik, 2810407E01Rik, Carkd

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R9359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11547506-11563287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11562968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 303 (K303E)

Ref Sequence

ENSEMBL: ENSMUSP00000136363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033901] [ENSMUST00000049461] [ENSMUST00000177955] [ENSMUST00000178721] [ENSMUST00000178817] [ENSMUST00000210478] [ENSMUST00000211395]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033901
AA Change: K341E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: K341E

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: ENSMUST00000049461

SMART Domains

Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:tRNA-synt_1e	50	351	4.1e-116	PFAM
Pfam:tRNA-synt_1g	63	207	1.5e-7	PFAM
Pfam:tRNA-synt_1g	280	370	4.2e-7	PFAM
Blast:DALR_2	391	461	3e-37	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177955
AA Change: K303E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: K303E

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

Predicted Effect

silent
Transcript: ENSMUST00000178721

SMART Domains

Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178817

SMART Domains

Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210478

Predicted Effect

probably benign
Transcript: ENSMUST00000211395

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,780,892 (GRCm39)	T380M	probably damaging	Het
Ankrd50	A	T	3: 38,537,172 (GRCm39)	N60K	probably damaging	Het
Atp6v0a4	G	A	6: 38,059,048 (GRCm39)	T245I	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cyp2j13	T	C	4: 95,950,170 (GRCm39)	D277G	probably damaging	Het
Def8	A	T	8: 124,185,105 (GRCm39)	I310F	probably benign	Het
Dmtf1	A	G	5: 9,171,927 (GRCm39)	L503S	possibly damaging	Het
Dock1	T	C	7: 134,770,125 (GRCm39)	V1795A	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gabbr1	A	G	17: 37,381,605 (GRCm39)	T790A	probably damaging	Het
Glg1	C	T	8: 111,914,425 (GRCm39)	R453Q	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpld1	G	A	13: 25,163,712 (GRCm39)	V502I	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Inhba	A	G	13: 16,191,966 (GRCm39)	H29R	probably benign	Het
Insr	G	C	8: 3,208,717 (GRCm39)	P1248R	probably damaging	Het
Ipcef1	C	T	10: 6,840,663 (GRCm39)	D349N	probably damaging	Het
Itga4	T	A	2: 79,156,004 (GRCm39)	I990N	possibly damaging	Het
Malrd1	T	C	2: 15,618,988 (GRCm39)	V284A		Het
Maml2	C	T	9: 13,532,969 (GRCm39)	Q728*	probably null	Het
Mex3d	A	T	10: 80,217,581 (GRCm39)	N545K		Het
Mios	T	A	6: 8,214,894 (GRCm39)	V30E	probably benign	Het
Muc16	A	G	9: 18,449,060 (GRCm39)		probably null	Het
Or2w1	T	C	13: 21,317,865 (GRCm39)	F307L	probably benign	Het
Or4l1	T	C	14: 50,166,906 (GRCm39)	T32A	probably benign	Het
Or5a21	T	A	19: 12,310,803 (GRCm39)	H139L	possibly damaging	Het
Or9q2	C	T	19: 13,772,200 (GRCm39)	M258I	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Ptgdr	A	G	14: 45,090,715 (GRCm39)	S348P		Het
Ptpdc1	T	A	13: 48,740,030 (GRCm39)	E467V	probably benign	Het
Qsox1	A	G	1: 155,658,343 (GRCm39)	S409P	probably damaging	Het
Rfx4	A	G	10: 84,740,921 (GRCm39)	T680A	probably benign	Het
Slc30a5	T	C	13: 100,949,970 (GRCm39)	T371A	probably damaging	Het
Slc5a7	A	T	17: 54,583,669 (GRCm39)	N540K	probably benign	Het
Slco6c1	A	T	1: 96,990,248 (GRCm39)	S664R	possibly damaging	Het
Tbxa2r	A	G	10: 81,168,958 (GRCm39)	S216G	probably damaging	Het
Tgm4	C	A	9: 122,881,837 (GRCm39)	S344R	probably damaging	Het
Thoc6	A	G	17: 23,887,823 (GRCm39)	V328A	possibly damaging	Het
Trim61	T	A	8: 65,467,228 (GRCm39)	Q11L	probably damaging	Het
Txndc2	G	A	17: 65,944,992 (GRCm39)	T395I	probably damaging	Het
Txndc9	T	C	1: 38,034,859 (GRCm39)	E15G	probably benign	Het
Unc93a2	G	T	17: 7,641,842 (GRCm39)	T202K	probably damaging	Het
Uspl1	G	A	5: 149,146,481 (GRCm39)	V411M	probably damaging	Het
Vcpip1	A	G	1: 9,816,049 (GRCm39)	I778T	possibly damaging	Het
Vps54	A	G	11: 21,242,108 (GRCm39)	T408A	probably benign	Het
Wscd1	T	C	11: 71,650,799 (GRCm39)	L42P	possibly damaging	Het

Other mutations in Naxd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Naxd	APN	8	11,555,525 (GRCm39)	splice site	probably null
IGL01983:Naxd	APN	8	11,560,218 (GRCm39)	unclassified	probably benign
R0496:Naxd	UTSW	8	11,560,224 (GRCm39)	unclassified	probably benign
R2044:Naxd	UTSW	8	11,559,510 (GRCm39)	missense	probably benign	0.02
R4183:Naxd	UTSW	8	11,552,757 (GRCm39)	missense	probably damaging	0.97
R4618:Naxd	UTSW	8	11,559,489 (GRCm39)	missense	probably damaging	0.98
R5015:Naxd	UTSW	8	11,563,032 (GRCm39)	missense	probably damaging	1.00
R5636:Naxd	UTSW	8	11,552,676 (GRCm39)	missense	probably benign	0.02
R6947:Naxd	UTSW	8	11,552,757 (GRCm39)	missense	probably damaging	0.97
R7121:Naxd	UTSW	8	11,556,745 (GRCm39)	missense	probably damaging	1.00
R8178:Naxd	UTSW	8	11,561,987 (GRCm39)	missense	probably benign	0.44
R9352:Naxd	UTSW	8	11,555,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTGTGCAGCTGTAGAAAAG -3'
(R):5'- TGGTTAGGTCGTAAATCCTCTG -3'

Sequencing Primer
(F):5'- CAGCTGTAGAAAAGTGGCCTCTC -3'
(R):5'- AGGTCGTAAATCCTCTGTTCCAAGTG -3'

Posted On

2022-04-18