Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02332:Ndn'

288749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndn

Ensembl Gene

ENSMUSG00000033585

Gene Name

necdin

Synonyms

Peg6

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

62346569-62350262 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62348825 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 140 (C140S)

Ref Sequence

ENSEMBL: ENSMUSP00000045369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038775]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038775
AA Change: C140S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045369
Gene: ENSMUSG00000033585
AA Change: C140S

Domain	Start	End	E-Value	Type
low complexity region	85	106	N/A	INTRINSIC
MAGE	109	279	5.95e-56	SMART
low complexity region	299	317	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207232

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,608,888		noncoding transcript	Het
Abca13	A	T	11: 9,291,482	Y1115F	probably damaging	Het
Adam29	T	A	8: 55,871,740	I560F	probably damaging	Het
Bivm	T	C	1: 44,128,720		probably benign	Het
Brinp1	C	A	4: 68,904,884	R24L	probably benign	Het
Cnga1	A	G	5: 72,604,486	Y562H	probably damaging	Het
Cr2	C	A	1: 195,160,322	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,843,128	N119I	probably damaging	Het
Dio1	A	T	4: 107,293,781	Y169N	probably damaging	Het
Dmbt1	C	T	7: 131,066,613		probably benign	Het
Eogt	T	G	6: 97,125,605	H249P	probably damaging	Het
Ermard	A	C	17: 14,990,545		probably null	Het
Exoc4	T	C	6: 33,249,240		probably null	Het
Fxr2	G	T	11: 69,649,838		probably null	Het
Glyr1	G	T	16: 5,018,953	T443N	probably damaging	Het
Gm14137	T	G	2: 119,175,326	L122R	probably damaging	Het
Gm4845	C	A	1: 141,256,597		noncoding transcript	Het
Gm8258	A	G	5: 104,775,902		noncoding transcript	Het
Gmps	G	A	3: 63,990,569	R258H	probably benign	Het
Itga6	T	G	2: 71,838,373	L552R	possibly damaging	Het
Itgam	T	A	7: 128,085,674		probably null	Het
Itgb5	G	T	16: 33,920,130	E224*	probably null	Het
Itih4	C	A	14: 30,887,860	A49D	probably damaging	Het
Itpr2	A	T	6: 146,426,542	N64K	probably damaging	Het
Moap1	T	C	12: 102,742,807	Y161C	probably benign	Het
Mst1r	G	T	9: 107,907,826	G228*	probably null	Het
Myo1g	T	C	11: 6,520,766	D30G	possibly damaging	Het
Nek5	G	T	8: 22,095,261	Q367K	probably benign	Het
Nrd1	A	T	4: 109,000,988	R52S	probably damaging	Het
Nup133	A	T	8: 123,907,832	L1007Q	probably damaging	Het
Olfr1105	T	C	2: 87,034,212	D3G	probably benign	Het
Olfr633	T	C	7: 103,946,920	M118T	probably damaging	Het
Olfr74	A	T	2: 87,974,065	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,341,805	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,443,582	V338M	probably benign	Het
Pdcl2	A	T	5: 76,319,135	Y70*	probably null	Het
Ppm1e	T	C	11: 87,231,742	H463R	probably benign	Het
Ppm1f	T	A	16: 16,914,087	C134S	possibly damaging	Het
Ppp2r3a	A	G	9: 101,180,403	F180L	possibly damaging	Het
Pxn	A	G	5: 115,544,926	S96G	probably benign	Het
Rasa4	G	T	5: 136,095,599	Q167H	probably benign	Het
Rfx8	T	C	1: 39,718,480	I43V	possibly damaging	Het
Sez6	C	T	11: 77,954,742		probably benign	Het
Slc39a6	A	T	18: 24,589,823	D473E	probably benign	Het
Spocd1	A	G	4: 129,949,092	D68G	probably damaging	Het
Syt13	T	C	2: 92,940,804	F79L	probably benign	Het
Tas2r103	A	T	6: 133,036,512	M197K	probably benign	Het
Tbrg4	A	G	11: 6,618,492	V429A	probably damaging	Het
Tuft1	A	C	3: 94,615,768		probably null	Het
Uqcrc1	A	G	9: 108,947,869	T80A	probably damaging	Het
Vps18	A	G	2: 119,293,810	N406S	probably benign	Het
Xrn2	T	A	2: 147,026,590	W188R	probably damaging	Het
Zzef1	T	G	11: 72,916,509	S2738A	probably benign	Het

Other mutations in Ndn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Ndn	APN	7	62348733	missense	probably damaging	1.00
IGL02705:Ndn	APN	7	62349108	missense	probably damaging	0.99
IGL02824:Ndn	APN	7	62348834	missense	possibly damaging	0.83
R1525:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R1595:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R1598:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R1636:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R1638:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R1653:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R1791:Ndn	UTSW	7	62348508	missense	probably benign	0.00
R4674:Ndn	UTSW	7	62348822	missense	probably damaging	1.00
R7202:Ndn	UTSW	7	62348961	missense	probably damaging	1.00
Z1088:Ndn	UTSW	7	62349134	missense	probably damaging	1.00
Z1176:Ndn	UTSW	7	62348544	missense	probably benign	0.00

Posted On

2015-04-16