Mutagenetix > Incidental Mutation

Incidental Mutation 'R7202:Ndn'

560374

Institutional Source

Beutler Lab

Gene Symbol

Ndn

Ensembl Gene

ENSMUSG00000033585

Gene Name

necdin, MAGE family member

Synonyms

Peg6

MMRRC Submission

045280-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R7202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61998025-61999676 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61998709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 185 (L185P)

Ref Sequence

ENSEMBL: ENSMUSP00000045369 (fasta)

Gene Model

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

AlphaFold

P25233

Predicted Effect

probably damaging
Transcript: ENSMUST00000038775
AA Change: L185P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045369
Gene: ENSMUSG00000033585
AA Change: L185P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,917,236 (GRCm39)	I1467T	probably damaging	Het
Abtb3	A	G	10: 85,223,629 (GRCm39)	E146G	unknown	Het
Adgrf3	T	A	5: 30,409,378 (GRCm39)	K38*	probably null	Het
Ahdc1	T	A	4: 132,789,198 (GRCm39)	C146*	probably null	Het
Ahnak	A	T	19: 8,995,163 (GRCm39)	K5482N	probably damaging	Het
Arhgap23	C	T	11: 97,342,819 (GRCm39)	A367V	possibly damaging	Het
Arvcf	T	C	16: 18,223,948 (GRCm39)	S960P	probably damaging	Het
Asb14	C	A	14: 26,622,394 (GRCm39)	P74Q	probably benign	Het
Atad5	T	C	11: 79,980,601 (GRCm39)	V2A	probably damaging	Het
Baz2a	A	G	10: 127,954,428 (GRCm39)	I691M	possibly damaging	Het
Brca2	A	G	5: 150,455,819 (GRCm39)	T187A	probably benign	Het
Calr4	T	A	4: 109,101,254 (GRCm39)	N152K	possibly damaging	Het
Ccnb2	C	T	9: 70,318,128 (GRCm39)	A215T	probably damaging	Het
Cdh16	C	T	8: 105,340,780 (GRCm39)	D140N	unknown	Het
Ces1g	T	C	8: 94,029,595 (GRCm39)	T546A	probably benign	Het
Cfap74	G	T	4: 155,510,654 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,155,959 (GRCm39)	Y88C	probably benign	Het
Col5a1	G	T	2: 27,842,390 (GRCm39)	D422Y	unknown	Het
Cyp2c66	A	T	19: 39,130,348 (GRCm39)	Y61F	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,158,688 (GRCm39)		probably null	Het
Dop1a	T	G	9: 86,386,220 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,954,834 (GRCm39)	F106L	probably damaging	Het
Gfy	T	C	7: 44,827,596 (GRCm39)	T167A	probably benign	Het
Gm6525	A	T	3: 84,082,341 (GRCm39)	R87S	probably benign	Het
Gramd1c	C	A	16: 43,879,584 (GRCm39)	A19S	possibly damaging	Het
Herc2	T	C	7: 55,781,034 (GRCm39)	V1233A	probably damaging	Het
Hibch	G	A	1: 52,892,874 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,027 (GRCm39)	S9C	probably benign	Het
Il17ra	A	G	6: 120,452,572 (GRCm39)	I252V	probably benign	Het
Ino80	A	T	2: 119,204,918 (GRCm39)	M1536K	probably benign	Het
Ipo11	A	T	13: 107,012,078 (GRCm39)	L568Q	probably damaging	Het
Kcnu1	T	G	8: 26,409,609 (GRCm39)		probably null	Het
Kdm5b	T	G	1: 134,552,497 (GRCm39)	S1158A	probably benign	Het
Kmt2a	T	C	9: 44,759,012 (GRCm39)	T946A	probably benign	Het
Kmt2e	A	T	5: 23,697,292 (GRCm39)		probably benign	Het
Krba1	G	A	6: 48,389,261 (GRCm39)	V594M	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lig1	C	T	7: 13,025,175 (GRCm39)	P227S	probably benign	Het
Lims2	T	A	18: 32,090,017 (GRCm39)	D255E	probably benign	Het
Marchf3	C	T	18: 56,909,161 (GRCm39)	C208Y	probably benign	Het
Mei1	A	G	15: 81,976,843 (GRCm39)	E142G		Het
Melk	G	T	4: 44,351,106 (GRCm39)	R549L	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myorg	T	C	4: 41,498,268 (GRCm39)	Y454C	probably damaging	Het
Nae1	T	C	8: 105,250,215 (GRCm39)	Y226C	possibly damaging	Het
Nap1l1	T	C	10: 111,326,964 (GRCm39)	F175S	probably damaging	Het
Ndst3	T	A	3: 123,465,388 (GRCm39)	I195F	possibly damaging	Het
Ndufaf1	A	T	2: 119,488,907 (GRCm39)	S206T	probably benign	Het
Nek10	C	A	14: 14,836,171 (GRCm38)	H131N	probably benign	Het
Obsl1	T	A	1: 75,466,360 (GRCm39)	D1456V	possibly damaging	Het
Or10a2	A	G	7: 106,673,448 (GRCm39)	N138D	probably benign	Het
Or10ak7	C	T	4: 118,791,215 (GRCm39)	V277I	probably benign	Het
Or52s6	T	A	7: 103,092,292 (GRCm39)	T13S	probably benign	Het
Otog	C	T	7: 45,937,474 (GRCm39)	L1728F	probably damaging	Het
Pcx	A	T	19: 4,652,361 (GRCm39)	M150L	possibly damaging	Het
Pole	A	G	5: 110,444,973 (GRCm39)	D443G	possibly damaging	Het
Prr14	G	T	7: 127,075,648 (GRCm39)	R552L	probably damaging	Het
Rasgrf1	T	G	9: 89,899,125 (GRCm39)	S1156A	possibly damaging	Het
Rfc4	T	A	16: 22,946,359 (GRCm39)		probably benign	Het
Rfx5	G	T	3: 94,866,272 (GRCm39)	A524S	unknown	Het
Ryr3	G	A	2: 112,596,664 (GRCm39)	P2497S	probably damaging	Het
Scg3	T	C	9: 75,590,992 (GRCm39)	T6A	probably benign	Het
Slc26a9	A	T	1: 131,690,526 (GRCm39)	D510V	possibly damaging	Het
Stpg3	A	G	2: 25,104,586 (GRCm39)	F10L	probably damaging	Het
Tmc5	T	A	7: 118,239,179 (GRCm39)	H357Q	possibly damaging	Het
Tmem40	A	T	6: 115,707,420 (GRCm39)	L253H	probably damaging	Het
Tmie	A	G	9: 110,696,632 (GRCm39)	V83A	probably damaging	Het
Uck2	A	T	1: 167,054,084 (GRCm39)	I218N	probably damaging	Het
Vtn	A	G	11: 78,391,626 (GRCm39)	D310G	possibly damaging	Het
Wdr49	A	T	3: 75,240,580 (GRCm39)	S430T	probably benign	Het
Wtip	A	G	7: 33,832,087 (GRCm39)	V133A	probably benign	Het
Zbtb9	T	A	17: 27,193,666 (GRCm39)	V357E	probably damaging	Het
Zfp953	G	A	13: 67,491,706 (GRCm39)	T82M	probably benign	Het

Other mutations in Ndn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Ndn	APN	7	61,998,481 (GRCm39)	missense	probably damaging	1.00
IGL02332:Ndn	APN	7	61,998,573 (GRCm39)	missense	probably damaging	0.98
IGL02705:Ndn	APN	7	61,998,856 (GRCm39)	missense	probably damaging	0.99
IGL02824:Ndn	APN	7	61,998,582 (GRCm39)	missense	possibly damaging	0.83
R1525:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R1595:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R1598:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R1636:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R1638:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R1653:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R1791:Ndn	UTSW	7	61,998,256 (GRCm39)	missense	probably benign	0.00
R4674:Ndn	UTSW	7	61,998,570 (GRCm39)	missense	probably damaging	1.00
R9455:Ndn	UTSW	7	61,998,337 (GRCm39)	missense	possibly damaging	0.91
R9467:Ndn	UTSW	7	61,998,903 (GRCm39)	missense	possibly damaging	0.51
R9605:Ndn	UTSW	7	61,998,337 (GRCm39)	missense	possibly damaging	0.91
R9607:Ndn	UTSW	7	61,998,337 (GRCm39)	missense	possibly damaging	0.91
R9608:Ndn	UTSW	7	61,998,337 (GRCm39)	missense	possibly damaging	0.91
Z1088:Ndn	UTSW	7	61,998,882 (GRCm39)	missense	probably damaging	1.00
Z1176:Ndn	UTSW	7	61,998,292 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTACGTGTTGGTGAAGGACC -3'
(R):5'- ATTCTGCTGGACGAACTCCTC -3'

Sequencing Primer
(F):5'- GGATGGTCCTCTGGTTTCC -3'
(R):5'- CGAACTCCTCGGTGATTATCTTC -3'

Posted On

2019-06-26