Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:Ncdn'

6576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncdn

Ensembl Gene

ENSMUSG00000028833

Gene Name

neurochondrin

Synonyms

neurochondrin-2, neurochondrin-1, norbin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

126637543-126647231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126640981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 506 (D506E)

Ref Sequence

ENSEMBL: ENSMUSP00000101722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030637] [ENSMUST00000106116]

AlphaFold

Q9Z0E0

Predicted Effect

probably benign
Transcript: ENSMUST00000030637
AA Change: D506E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833
AA Change: D506E

Domain	Start	End	E-Value	Type
Pfam:Neurochondrin	30	637	3e-209	PFAM
low complexity region	649	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106116
AA Change: D506E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833
AA Change: D506E

Domain	Start	End	E-Value	Type
Pfam:Neurochondrin	30	637	9.1e-217	PFAM
low complexity region	649	659	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127079

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene results in early embryonic lethality in the homozygous state and impaired chondrocyte proliferation and differentiation in the heterozygous state. Gene trap mutation resulted in lacrimal gland hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,849,525 (GRCm39)	H632Y	probably damaging	Het
Adgre5	T	A	8: 84,455,030 (GRCm39)	M221L	probably benign	Het
Apba2	A	T	7: 64,386,689 (GRCm39)	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,371,559 (GRCm39)	N632K	probably damaging	Het
Bcas3	A	T	11: 85,256,417 (GRCm39)	I60L	probably damaging	Het
Brd9	T	C	13: 74,086,666 (GRCm39)	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,751,295 (GRCm39)	D925V	possibly damaging	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,102,208 (GRCm39)	T410A	probably benign	Het
Cimap3	A	G	3: 105,921,824 (GRCm39)	V33A	probably benign	Het
Ddx60	G	T	8: 62,411,680 (GRCm39)	D511Y	probably damaging	Het
Drc7	C	A	8: 95,782,629 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,118,933 (GRCm39)	E1290G	probably benign	Het
Fam168b	T	C	1: 34,875,883 (GRCm39)	M1V	probably null	Het
Farsa	A	G	8: 85,590,886 (GRCm39)	K208R	probably damaging	Het
Fnip2	A	G	3: 79,425,368 (GRCm39)		probably benign	Het
Gm17535	A	T	9: 3,035,111 (GRCm39)	H170L	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gm5852	T	C	3: 93,634,501 (GRCm39)		noncoding transcript	Het
Gnb2	T	C	5: 137,528,968 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,373,494 (GRCm39)	N143S	probably damaging	Het
Hcn1	C	A	13: 117,739,513 (GRCm39)	Q92K	unknown	Het
Helb	T	C	10: 119,934,150 (GRCm39)	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,512,798 (GRCm39)	A118D	probably damaging	Het
Klhl14	G	A	18: 21,784,921 (GRCm39)	P169S	probably benign	Het
Kndc1	T	C	7: 139,481,904 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,598,051 (GRCm39)	E57G	probably damaging	Het
Lrch4	T	C	5: 137,636,009 (GRCm39)	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,433,053 (GRCm39)	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,364,630 (GRCm39)		probably benign	Het
Mamstr	G	A	7: 45,293,709 (GRCm39)	V262I	probably benign	Het
Mob1b	A	T	5: 88,904,014 (GRCm39)	T217S	probably benign	Het
Mocs3	G	A	2: 168,073,411 (GRCm39)	R286H	possibly damaging	Het
Mpo	A	T	11: 87,693,443 (GRCm39)	Q27L	probably benign	Het
Noxa1	A	G	2: 24,984,914 (GRCm39)	I8T	probably benign	Het
Oma1	G	T	4: 103,176,565 (GRCm39)	A110S	probably benign	Het
Or10a48	C	T	7: 108,424,280 (GRCm39)	V309I	probably benign	Het
Or13a18	T	A	7: 140,190,666 (GRCm39)	S196T	probably damaging	Het
Or8b4	A	G	9: 37,830,346 (GRCm39)	Y131C	probably damaging	Het
Pde4a	A	C	9: 21,122,357 (GRCm39)	K694T	probably benign	Het
Phc1	A	G	6: 122,299,958 (GRCm39)		probably benign	Het
Pias1	A	G	9: 62,830,578 (GRCm39)	V187A	probably damaging	Het
Pigf	C	A	17: 87,327,876 (GRCm39)	L130F	probably null	Het
Pkd1	G	T	17: 24,799,069 (GRCm39)	V2763L	probably damaging	Het
Potefam1	G	T	2: 111,051,107 (GRCm39)	L230I	probably damaging	Het
Ppp1r8	T	C	4: 132,561,992 (GRCm39)	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,568,324 (GRCm39)	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,698,924 (GRCm39)	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,412,790 (GRCm39)	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,070,185 (GRCm39)	I148F	probably damaging	Het
Stard3	T	C	11: 98,268,285 (GRCm39)	Y239H	probably damaging	Het
Stau1	T	C	2: 166,792,729 (GRCm39)	Y412C	probably benign	Het
Sucnr1	A	G	3: 59,994,053 (GRCm39)	I194V	probably benign	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,101,963 (GRCm39)	T79A	probably benign	Het
Trav9-2	A	T	14: 53,828,840 (GRCm39)	Y70F	probably benign	Het
Tspear	A	G	10: 77,709,070 (GRCm39)	E432G	probably benign	Het
Ube2o	T	C	11: 116,435,580 (GRCm39)	R403G	probably benign	Het
Unc80	C	A	1: 66,645,618 (GRCm39)	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,258,336 (GRCm39)	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,489,652 (GRCm39)	M473L	probably benign	Het
Xpot	T	A	10: 121,441,549 (GRCm39)	M559L	probably benign	Het

Other mutations in Ncdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0031:Ncdn	UTSW	4	126,643,901 (GRCm39)	splice site	probably null
R0135:Ncdn	UTSW	4	126,640,462 (GRCm39)	missense	probably benign	0.37
R0413:Ncdn	UTSW	4	126,644,327 (GRCm39)	missense	possibly damaging	0.52
R1404:Ncdn	UTSW	4	126,643,833 (GRCm39)	missense	probably benign	0.33
R1404:Ncdn	UTSW	4	126,643,833 (GRCm39)	missense	probably benign	0.33
R1486:Ncdn	UTSW	4	126,642,391 (GRCm39)	missense	probably damaging	1.00
R1533:Ncdn	UTSW	4	126,642,491 (GRCm39)	nonsense	probably null
R1785:Ncdn	UTSW	4	126,639,066 (GRCm39)	critical splice acceptor site	probably null
R1786:Ncdn	UTSW	4	126,639,066 (GRCm39)	critical splice acceptor site	probably null
R1789:Ncdn	UTSW	4	126,645,796 (GRCm39)	missense	probably damaging	1.00
R1791:Ncdn	UTSW	4	126,645,732 (GRCm39)	critical splice donor site	probably null
R3406:Ncdn	UTSW	4	126,642,388 (GRCm39)	missense	probably benign	0.09
R4547:Ncdn	UTSW	4	126,640,467 (GRCm39)	missense	probably damaging	1.00
R4863:Ncdn	UTSW	4	126,644,216 (GRCm39)	missense	probably damaging	1.00
R4916:Ncdn	UTSW	4	126,643,731 (GRCm39)	missense	possibly damaging	0.89
R4917:Ncdn	UTSW	4	126,643,731 (GRCm39)	missense	possibly damaging	0.89
R4918:Ncdn	UTSW	4	126,643,731 (GRCm39)	missense	possibly damaging	0.89
R5218:Ncdn	UTSW	4	126,644,603 (GRCm39)	missense	probably benign	0.13
R5356:Ncdn	UTSW	4	126,641,021 (GRCm39)	missense	probably damaging	1.00
R5617:Ncdn	UTSW	4	126,638,840 (GRCm39)	missense	probably damaging	0.99
R5718:Ncdn	UTSW	4	126,643,743 (GRCm39)	nonsense	probably null
R6057:Ncdn	UTSW	4	126,638,824 (GRCm39)	missense	probably benign	0.05
R6343:Ncdn	UTSW	4	126,640,964 (GRCm39)	missense	possibly damaging	0.74
R6986:Ncdn	UTSW	4	126,641,022 (GRCm39)	missense	probably damaging	1.00
R6988:Ncdn	UTSW	4	126,640,982 (GRCm39)	missense	probably benign	0.00
R8257:Ncdn	UTSW	4	126,643,676 (GRCm39)	critical splice donor site	probably null
R8279:Ncdn	UTSW	4	126,644,199 (GRCm39)	missense	probably benign	0.00
R8804:Ncdn	UTSW	4	126,643,898 (GRCm39)	missense	probably benign	0.09
R8812:Ncdn	UTSW	4	126,638,905 (GRCm39)	missense	possibly damaging	0.52
R9047:Ncdn	UTSW	4	126,644,621 (GRCm39)	missense	possibly damaging	0.69
R9206:Ncdn	UTSW	4	126,644,041 (GRCm39)	missense	probably benign	0.03
R9208:Ncdn	UTSW	4	126,644,041 (GRCm39)	missense	probably benign	0.03
R9289:Ncdn	UTSW	4	126,643,903 (GRCm39)	missense	possibly damaging	0.81
R9353:Ncdn	UTSW	4	126,644,464 (GRCm39)	missense	probably benign	0.00
R9420:Ncdn	UTSW	4	126,645,762 (GRCm39)	missense	probably damaging	1.00
R9578:Ncdn	UTSW	4	126,645,795 (GRCm39)	missense	probably damaging	1.00
R9687:Ncdn	UTSW	4	126,642,467 (GRCm39)	missense	probably damaging	1.00
R9698:Ncdn	UTSW	4	126,643,688 (GRCm39)	missense	probably damaging	1.00
R9778:Ncdn	UTSW	4	126,642,467 (GRCm39)	missense	probably damaging	1.00
R9781:Ncdn	UTSW	4	126,642,467 (GRCm39)	missense	probably damaging	1.00
Z1176:Ncdn	UTSW	4	126,643,946 (GRCm39)	missense	probably benign	0.05
Z1176:Ncdn	UTSW	4	126,643,944 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20