Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Ndrg1'

518663

Institutional Source

Beutler Lab

Gene Symbol

Ndrg1

Ensembl Gene

ENSMUSG00000005125

Gene Name

N-myc downstream regulated gene 1

Synonyms

DRG1, Ndrl, PROXY1, Tdd5, Ndr1, CMT4D, TDD5, CAP43

MMRRC Submission

044571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6433 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66801167-66841489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66805721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 128 (M128K)

Ref Sequence

ENSEMBL: ENSMUSP00000127099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005256] [ENSMUST00000166420]

AlphaFold

Q62433

Predicted Effect

probably damaging
Transcript: ENSMUST00000005256
AA Change: M312K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005256
Gene: ENSMUSG00000005125
AA Change: M312K

Domain	Start	End	E-Value	Type
Pfam:Ndr	34	316	4.4e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165966

Predicted Effect

probably damaging
Transcript: ENSMUST00000166420
AA Change: M128K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127099
Gene: ENSMUSG00000005125
AA Change: M128K

Domain	Start	End	E-Value	Type
Pfam:Ndr	17	132	1.4e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171569

Meta Mutation Damage Score

0.8601

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mice exhibit a progressive demyelinating disorder of the peripheral nerves with hindlimb weakness. Mice homozygous for a different knock-out allele exhibit decreased cellular susceptibility to gamma-irradiation and increased susceptibility to spontaneous and induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,101,561 (GRCm39)	D1016E	probably damaging	Het
Aplnr	A	T	2: 84,967,017 (GRCm39)	Q14L	probably benign	Het
Aspm	T	C	1: 139,401,421 (GRCm39)	L1147S	probably damaging	Het
Atad2b	A	G	12: 5,002,642 (GRCm39)	T337A	possibly damaging	Het
Atrn	A	G	2: 130,864,947 (GRCm39)	E1358G	probably damaging	Het
Caml	C	A	13: 55,771,062 (GRCm39)	S53R	possibly damaging	Het
Cd180	T	G	13: 102,842,141 (GRCm39)	S396A	probably benign	Het
Cdhr2	A	G	13: 54,866,325 (GRCm39)	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,427,466 (GRCm39)	D224A	probably damaging	Het
Dhx36	T	C	3: 62,392,395 (GRCm39)	T544A	probably damaging	Het
Dnah14	A	G	1: 181,479,222 (GRCm39)	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,292,022 (GRCm39)	K199N	probably benign	Het
Dsc2	C	T	18: 20,184,232 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,323,776 (GRCm39)	D239E	probably damaging	Het
Elovl4	A	G	9: 83,667,231 (GRCm39)	V42A	possibly damaging	Het
Exoc3	T	C	13: 74,337,306 (GRCm39)	T432A	possibly damaging	Het
Fam98c	A	G	7: 28,855,553 (GRCm39)		probably null	Het
Fbln2	G	A	6: 91,210,254 (GRCm39)	G66D	probably damaging	Het
Fchsd1	G	A	18: 38,097,137 (GRCm39)	T410I	possibly damaging	Het
Flcn	T	C	11: 59,691,908 (GRCm39)	D247G	probably damaging	Het
Galnt16	T	C	12: 80,622,677 (GRCm39)	V127A	probably benign	Het
H2-Ob	A	T	17: 34,462,860 (GRCm39)		probably null	Het
Has2	G	A	15: 56,531,194 (GRCm39)	S507F	possibly damaging	Het
Ido2	T	A	8: 25,023,939 (GRCm39)	M300L	probably damaging	Het
Itga10	T	C	3: 96,565,357 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Mfsd2a	A	G	4: 122,844,250 (GRCm39)	V299A	probably benign	Het
Mybpc1	T	C	10: 88,396,217 (GRCm39)	D210G	probably damaging	Het
Obscn	T	A	11: 58,942,384 (GRCm39)	T5091S	probably benign	Het
Or2j3	A	G	17: 38,616,304 (GRCm39)	L16P	probably damaging	Het
Pex5	A	T	6: 124,390,572 (GRCm39)	M91K	possibly damaging	Het
Phlpp2	G	T	8: 110,661,317 (GRCm39)	A810S	probably benign	Het
Pla2g7	G	C	17: 43,910,017 (GRCm39)	A174P	probably damaging	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Poll	A	T	19: 45,542,043 (GRCm39)	M421K	probably benign	Het
Ppfia2	C	A	10: 106,749,559 (GRCm39)	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,758,746 (GRCm39)	F280S	probably benign	Het
Rdh10	G	A	1: 16,178,079 (GRCm39)	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,561,630 (GRCm39)	A70S	unknown	Het
Scgb2b3	A	T	7: 31,058,492 (GRCm39)	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,863,941 (GRCm39)	R749G	probably damaging	Het
Skint4	A	G	4: 112,003,707 (GRCm39)	K380R	probably benign	Het
Smtnl1	A	C	2: 84,648,712 (GRCm39)	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,864,999 (GRCm39)	S716P	probably damaging	Het
Spc25	A	G	2: 69,036,446 (GRCm39)		probably benign	Het
Stab2	C	T	10: 86,737,431 (GRCm39)		probably null	Het
Timm22	T	C	11: 76,300,570 (GRCm39)	V114A	possibly damaging	Het
Timp4	A	G	6: 115,224,181 (GRCm39)	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548 (GRCm39)	N480K	possibly damaging	Het
Tpo	T	C	12: 30,134,753 (GRCm39)	E735G	probably benign	Het
Trpm3	A	G	19: 22,878,669 (GRCm39)	D692G	probably damaging	Het
Ttn	T	C	2: 76,582,058 (GRCm39)	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,454,801 (GRCm39)	Y499*	probably null	Het
Vwa1	G	A	4: 155,857,226 (GRCm39)	H191Y	probably benign	Het

Other mutations in Ndrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Ndrg1	APN	15	66,814,959 (GRCm39)	missense	probably damaging	1.00
IGL01419:Ndrg1	APN	15	66,802,900 (GRCm39)	missense	probably benign	0.01
IGL02618:Ndrg1	APN	15	66,812,086 (GRCm39)	missense	probably benign	0.03
IGL02869:Ndrg1	APN	15	66,818,346 (GRCm39)	missense	probably benign	0.01
IGL03206:Ndrg1	APN	15	66,814,936 (GRCm39)	nonsense	probably null
PIT4377001:Ndrg1	UTSW	15	66,820,288 (GRCm39)	missense	probably benign
R0328:Ndrg1	UTSW	15	66,815,008 (GRCm39)	splice site	probably benign
R1102:Ndrg1	UTSW	15	66,816,685 (GRCm39)	missense	probably damaging	1.00
R1105:Ndrg1	UTSW	15	66,812,080 (GRCm39)	missense	probably damaging	0.99
R1748:Ndrg1	UTSW	15	66,802,930 (GRCm39)	missense	possibly damaging	0.55
R1875:Ndrg1	UTSW	15	66,802,940 (GRCm39)	missense	possibly damaging	0.91
R5214:Ndrg1	UTSW	15	66,831,239 (GRCm39)	missense	probably damaging	0.99
R5809:Ndrg1	UTSW	15	66,802,699 (GRCm39)	unclassified	probably benign
R7104:Ndrg1	UTSW	15	66,818,377 (GRCm39)	missense	probably damaging	1.00
R7412:Ndrg1	UTSW	15	66,832,382 (GRCm39)	start codon destroyed	probably null	1.00
R7424:Ndrg1	UTSW	15	66,816,787 (GRCm39)	splice site	probably null
R7667:Ndrg1	UTSW	15	66,820,243 (GRCm39)	missense	probably damaging	1.00
R9220:Ndrg1	UTSW	15	66,805,711 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCAAACTGGGTGCTGATCC -3'
(R):5'- AAAACTGATTCTGGTCCCCACG -3'

Sequencing Primer
(F):5'- AAACTGGGTGCTGATCCATTCC -3'
(R):5'- ACGAGCATCCTGGGTTTTTC -3'

Posted On

2018-05-24