Mutagenetix > Incidental Mutation

Incidental Mutation 'R5015:Naxd'

385503

Institutional Source

Beutler Lab

Gene Symbol

Naxd

Ensembl Gene

ENSMUSG00000031505

Gene Name

NAD(P)HX dehydratase

Synonyms

0710008K08Rik, 2810407E01Rik, Carkd

MMRRC Submission

042606-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R5015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11547506-11563287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11563032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 324 (L324P)

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: L362P

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

SMART Domains

Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: L362P

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

probably damaging
Transcript: ENSMUST00000177955
AA Change: L324P

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

SMART Domains

Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: L324P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178382

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000180269

Predicted Effect

probably benign
Transcript: ENSMUST00000210478

Predicted Effect

probably benign
Transcript: ENSMUST00000211395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210316

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,671 (GRCm39)	F312L	probably benign	Het
Adprm	A	G	11: 66,932,856 (GRCm39)	F18L	possibly damaging	Het
Ampd1	T	G	3: 103,006,981 (GRCm39)	N735K	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp1a4	T	C	1: 172,081,649 (GRCm39)	M168V	probably damaging	Het
Bcl6	G	A	16: 23,793,600 (GRCm39)	H116Y	probably damaging	Het
Bmpr2	T	A	1: 59,890,383 (GRCm39)	N338K	probably damaging	Het
Bms1	A	T	6: 118,381,224 (GRCm39)	Y697*	probably null	Het
Ccdc33	A	C	9: 58,025,918 (GRCm39)	F37C	probably damaging	Het
Ccdc60	T	A	5: 116,426,507 (GRCm39)	Q30L	probably benign	Het
Cndp1	C	A	18: 84,650,036 (GRCm39)	R219L	probably damaging	Het
Cstdc4	T	C	16: 36,006,837 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,783,550 (GRCm39)	D627Y	probably damaging	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dnah2	T	G	11: 69,388,708 (GRCm39)	T892P	possibly damaging	Het
Dqx1	A	G	6: 83,043,092 (GRCm39)	T610A	probably benign	Het
Dspp	A	T	5: 104,324,926 (GRCm39)	I430L	possibly damaging	Het
Dytn	T	A	1: 63,672,854 (GRCm39)	K516N	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fmnl2	T	A	2: 52,993,773 (GRCm39)	N389K	possibly damaging	Het
Fn1	G	A	1: 71,665,336 (GRCm39)	T927I	probably damaging	Het
Foxn1	T	C	11: 78,261,989 (GRCm39)	K127E	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,608 (GRCm39)	F251S	probably damaging	Het
Frrs1	A	G	3: 116,672,088 (GRCm39)	D62G	probably damaging	Het
Fut10	T	A	8: 31,726,148 (GRCm39)	V301D	probably damaging	Het
Gk5	A	G	9: 96,059,470 (GRCm39)		probably null	Het
Glipr1l1	T	A	10: 111,914,279 (GRCm39)	N213K	probably benign	Het
Gm1110	A	G	9: 26,793,162 (GRCm39)	F538S	probably benign	Het
Gm7347	T	A	5: 26,262,366 (GRCm39)	T52S	probably benign	Het
Gsap	T	C	5: 21,427,406 (GRCm39)	I178T	probably damaging	Het
H1f9	C	A	11: 94,858,928 (GRCm39)	N74K	probably damaging	Het
Hcn1	A	T	13: 117,739,556 (GRCm39)	Q106L	unknown	Het
Isg20l2	G	T	3: 87,839,288 (GRCm39)	L166F	possibly damaging	Het
Kcnq3	T	A	15: 65,876,612 (GRCm39)	E510D	probably damaging	Het
Kif26b	G	T	1: 178,755,895 (GRCm39)	R2003L	probably damaging	Het
Kiss1r	T	C	10: 79,754,641 (GRCm39)	V45A	probably damaging	Het
Krt14	G	A	11: 100,098,032 (GRCm39)	R84*	probably null	Het
Mbd5	T	C	2: 49,148,208 (GRCm39)	M806T	possibly damaging	Het
Mdga1	A	T	17: 30,058,847 (GRCm39)	I13N	possibly damaging	Het
Mfsd4b5	T	C	10: 39,850,758 (GRCm39)	K73E	probably benign	Het
Mterf2	C	T	10: 84,955,596 (GRCm39)	G343R	probably benign	Het
Mto1	T	A	9: 78,368,903 (GRCm39)	F522I	probably benign	Het
Myo18b	T	C	5: 112,937,923 (GRCm39)	E1734G	probably damaging	Het
Myoz1	T	C	14: 20,703,787 (GRCm39)	T53A	probably benign	Het
Nos1	T	A	5: 118,005,334 (GRCm39)	V18D	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Or10v5	T	C	19: 11,805,482 (GRCm39)	R303G	probably benign	Het
Or10z1	A	G	1: 174,078,448 (GRCm39)	L15S	possibly damaging	Het
Or1e29	C	G	11: 73,668,007 (GRCm39)	V49L	probably benign	Het
Or2j6	T	C	7: 139,980,083 (GRCm39)	D292G	probably damaging	Het
Or52b1	A	G	7: 104,978,811 (GRCm39)	V196A	possibly damaging	Het
Otof	T	A	5: 30,540,238 (GRCm39)	Y981F	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,670,597 (GRCm39)	K7E	probably damaging	Het
Pi4ka	A	G	16: 17,120,946 (GRCm39)	S73P	possibly damaging	Het
Plxnb1	T	A	9: 108,929,498 (GRCm39)	I118N	possibly damaging	Het
Prcc	T	C	3: 87,779,560 (GRCm39)	D158G	probably damaging	Het
Ptpn7	C	A	1: 135,066,877 (GRCm39)	R245S	possibly damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwp2	A	G	10: 78,018,527 (GRCm39)	C86R	probably benign	Het
Rfng	T	G	11: 120,673,876 (GRCm39)	D178A	probably damaging	Het
Rhpn1	T	C	15: 75,580,090 (GRCm39)	I51T	probably damaging	Het
Rnasel	G	T	1: 153,629,843 (GRCm39)	E120*	probably null	Het
Sall2	T	G	14: 52,553,112 (GRCm39)	S26R	possibly damaging	Het
Scn10a	A	G	9: 119,451,987 (GRCm39)	V1312A	possibly damaging	Het
Sdk2	C	A	11: 113,684,587 (GRCm39)	R1958L	probably damaging	Het
Septin4	C	T	11: 87,458,043 (GRCm39)	S139F	possibly damaging	Het
Slc52a2	T	A	15: 76,424,751 (GRCm39)	C330S	probably damaging	Het
Smarca2	T	A	19: 26,668,788 (GRCm39)	I987N	possibly damaging	Het
Srrt	A	T	5: 137,294,271 (GRCm39)	Y486N	probably damaging	Het
Stat5b	A	T	11: 100,695,831 (GRCm39)	N50K	possibly damaging	Het
Strip2	T	A	6: 29,931,265 (GRCm39)	D405E	probably benign	Het
Tcstv6	T	A	13: 120,298,474 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,924,739 (GRCm39)	D986E	probably damaging	Het
Tph2	T	C	10: 114,915,621 (GRCm39)	N473S	probably benign	Het
Tpp1	C	T	7: 105,401,232 (GRCm39)		probably benign	Het
Trpm3	T	C	19: 22,689,076 (GRCm39)	Y2H	probably damaging	Het
Ttc21a	A	T	9: 119,795,195 (GRCm39)	E1072V	probably damaging	Het
Zfat	T	C	15: 68,050,762 (GRCm39)	D753G	probably damaging	Het
Zmym2	T	A	14: 57,159,051 (GRCm39)	S609T	probably 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
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
R9359:Naxd	UTSW	8	11,562,968 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGAAAGCCTTTGATTGTGCTC -3'
(R):5'- AGCAAGCCCAGATCCAGTTG -3'

Sequencing Primer
(F):5'- GAAAGCCTTTGATTGTGCTCTTATC -3'
(R):5'- CAGCTATTTCTGAGAAGCCAAG -3'

Posted On

2016-05-10