Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Nalcn'

365921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123536284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1255 (E1255G)

Ref Sequence

ENSEMBL: ENSMUSP00000000201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000201]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000000201
AA Change: E1255G

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

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: E1255G

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	35	333	2.8e-37	PFAM
low complexity region	338	348	N/A	INTRINSIC
Pfam:Ion_trans	383	609	5.7e-34	PFAM
coiled coil region	796	830	N/A	INTRINSIC
Pfam:Ion_trans	885	1166	2.4e-42	PFAM
Pfam:Ion_trans	1209	1458	6.9e-30	PFAM
low complexity region	1548	1560	N/A	INTRINSIC
low complexity region	1634	1649	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228860

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal breathing at birth and die within 24 hours. Mice homozygous for a gain of function ENU mutation exhibit reduced the total amount and episode duration of REMS. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Nalcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Nalcn	APN	14	123,586,201 (GRCm39)	missense	probably benign	0.00
IGL00964:Nalcn	APN	14	123,532,796 (GRCm39)	splice site	probably benign
IGL01310:Nalcn	APN	14	123,554,661 (GRCm39)	missense	probably benign	0.00
IGL01578:Nalcn	APN	14	123,809,503 (GRCm39)	missense	probably benign	0.00
IGL01925:Nalcn	APN	14	123,529,260 (GRCm39)	missense	possibly damaging	0.88
IGL02072:Nalcn	APN	14	123,560,770 (GRCm39)	missense	probably benign	0.05
IGL02096:Nalcn	APN	14	123,831,915 (GRCm39)	missense	probably benign	0.11
IGL02212:Nalcn	APN	14	123,752,742 (GRCm39)	missense	probably damaging	0.99
IGL02306:Nalcn	APN	14	123,560,750 (GRCm39)	missense	probably benign	0.07
IGL02471:Nalcn	APN	14	123,560,726 (GRCm39)	missense	probably benign	0.02
IGL02478:Nalcn	APN	14	123,558,717 (GRCm39)	missense	probably benign	0.26
IGL02551:Nalcn	APN	14	123,560,750 (GRCm39)	missense	probably benign	0.07
IGL02630:Nalcn	APN	14	123,555,291 (GRCm39)	missense	probably benign	0.16
IGL02632:Nalcn	APN	14	123,555,265 (GRCm39)	missense	probably benign	0.11
IGL02661:Nalcn	APN	14	123,830,321 (GRCm39)	splice site	probably benign
IGL02830:Nalcn	APN	14	123,530,881 (GRCm39)	missense	probably damaging	0.98
IGL03035:Nalcn	APN	14	123,515,630 (GRCm39)	nonsense	probably null
IGL03226:Nalcn	APN	14	123,518,527 (GRCm39)	missense	probably benign	0.00
IGL03242:Nalcn	APN	14	123,558,899 (GRCm39)	missense	possibly damaging	0.91
Narnia	UTSW	14	123,528,459 (GRCm39)	missense	probably benign	0.11
R0019:Nalcn	UTSW	14	123,744,901 (GRCm39)	missense	probably benign	0.18
R0144:Nalcn	UTSW	14	123,647,251 (GRCm39)	splice site	probably benign
R0144:Nalcn	UTSW	14	123,608,948 (GRCm39)	missense	probably damaging	0.96
R0359:Nalcn	UTSW	14	123,536,580 (GRCm39)	missense	probably damaging	1.00
R0383:Nalcn	UTSW	14	123,744,971 (GRCm39)	missense	probably benign	0.01
R0400:Nalcn	UTSW	14	123,528,372 (GRCm39)	splice site	probably benign
R0467:Nalcn	UTSW	14	123,528,459 (GRCm39)	missense	probably benign	0.11
R0506:Nalcn	UTSW	14	123,834,026 (GRCm39)	missense	possibly damaging	0.82
R0583:Nalcn	UTSW	14	123,531,755 (GRCm39)	missense	possibly damaging	0.46
R0620:Nalcn	UTSW	14	123,536,553 (GRCm39)	splice site	probably benign
R0624:Nalcn	UTSW	14	123,607,444 (GRCm39)	missense	probably benign
R0883:Nalcn	UTSW	14	123,702,152 (GRCm39)	missense	probably damaging	1.00
R1381:Nalcn	UTSW	14	123,551,517 (GRCm39)	missense	probably damaging	1.00
R1467:Nalcn	UTSW	14	123,702,068 (GRCm39)	splice site	probably benign
R1689:Nalcn	UTSW	14	123,522,666 (GRCm39)	missense	probably damaging	1.00
R1726:Nalcn	UTSW	14	123,545,816 (GRCm39)	missense	probably damaging	1.00
R1774:Nalcn	UTSW	14	123,515,678 (GRCm39)	missense	probably benign
R1854:Nalcn	UTSW	14	123,697,824 (GRCm39)	missense	probably damaging	1.00
R1869:Nalcn	UTSW	14	123,831,965 (GRCm39)	missense	possibly damaging	0.96
R1871:Nalcn	UTSW	14	123,831,965 (GRCm39)	missense	possibly damaging	0.96
R1873:Nalcn	UTSW	14	123,521,013 (GRCm39)	missense	probably benign	0.00
R1899:Nalcn	UTSW	14	123,553,538 (GRCm39)	missense	possibly damaging	0.50
R1915:Nalcn	UTSW	14	123,540,181 (GRCm39)	missense	probably benign	0.08
R2016:Nalcn	UTSW	14	123,831,993 (GRCm39)	splice site	probably null
R2034:Nalcn	UTSW	14	123,521,015 (GRCm39)	missense	probably benign	0.01
R2087:Nalcn	UTSW	14	123,518,557 (GRCm39)	missense	probably benign
R2149:Nalcn	UTSW	14	123,607,429 (GRCm39)	missense	probably benign	0.01
R2157:Nalcn	UTSW	14	123,647,164 (GRCm39)	missense	probably benign	0.32
R2166:Nalcn	UTSW	14	123,607,363 (GRCm39)	missense	probably benign	0.00
R2932:Nalcn	UTSW	14	123,830,430 (GRCm39)	missense	probably benign	0.06
R3408:Nalcn	UTSW	14	123,834,029 (GRCm39)	missense	probably null	0.98
R3778:Nalcn	UTSW	14	123,702,128 (GRCm39)	missense	probably damaging	1.00
R3807:Nalcn	UTSW	14	123,515,599 (GRCm39)	missense	probably damaging	1.00
R3835:Nalcn	UTSW	14	123,530,834 (GRCm39)	splice site	probably benign
R3937:Nalcn	UTSW	14	123,607,357 (GRCm39)	missense	probably benign	0.00
R4001:Nalcn	UTSW	14	123,834,006 (GRCm39)	missense	probably damaging	1.00
R4015:Nalcn	UTSW	14	123,723,799 (GRCm39)	missense	probably damaging	1.00
R4033:Nalcn	UTSW	14	123,837,401 (GRCm39)	splice site	probably benign
R4231:Nalcn	UTSW	14	123,837,325 (GRCm39)	missense	probably benign	0.01
R4464:Nalcn	UTSW	14	123,560,762 (GRCm39)	missense	probably benign
R4512:Nalcn	UTSW	14	123,532,860 (GRCm39)	missense	probably damaging	1.00
R4542:Nalcn	UTSW	14	123,558,889 (GRCm39)	synonymous	silent
R4557:Nalcn	UTSW	14	123,558,647 (GRCm39)	intron	probably benign
R4869:Nalcn	UTSW	14	123,837,296 (GRCm39)	missense	probably benign	0.44
R5083:Nalcn	UTSW	14	123,560,706 (GRCm39)	splice site	probably null
R5109:Nalcn	UTSW	14	123,515,650 (GRCm39)	missense	possibly damaging	0.86
R5131:Nalcn	UTSW	14	123,753,182 (GRCm39)	missense	probably damaging	0.98
R5158:Nalcn	UTSW	14	123,753,149 (GRCm39)	missense	probably damaging	1.00
R5259:Nalcn	UTSW	14	123,753,063 (GRCm39)	missense	possibly damaging	0.94
R5422:Nalcn	UTSW	14	123,752,777 (GRCm39)	missense	probably damaging	1.00
R5514:Nalcn	UTSW	14	123,521,123 (GRCm39)	missense	probably benign	0.14
R5523:Nalcn	UTSW	14	123,647,155 (GRCm39)	missense	probably damaging	1.00
R5551:Nalcn	UTSW	14	123,515,698 (GRCm39)	missense	possibly damaging	0.57
R5667:Nalcn	UTSW	14	123,532,818 (GRCm39)	missense	probably damaging	1.00
R5671:Nalcn	UTSW	14	123,532,818 (GRCm39)	missense	probably damaging	1.00
R5750:Nalcn	UTSW	14	123,809,450 (GRCm39)	missense	probably benign
R5765:Nalcn	UTSW	14	123,702,138 (GRCm39)	missense	possibly damaging	0.46
R6324:Nalcn	UTSW	14	123,647,161 (GRCm39)	missense	possibly damaging	0.83
R6523:Nalcn	UTSW	14	123,555,255 (GRCm39)	missense	probably benign	0.00
R6558:Nalcn	UTSW	14	123,723,919 (GRCm39)	missense	probably benign
R6631:Nalcn	UTSW	14	123,697,663 (GRCm39)	missense	probably benign	0.17
R6667:Nalcn	UTSW	14	123,558,735 (GRCm39)	missense	probably damaging	1.00
R6670:Nalcn	UTSW	14	123,702,084 (GRCm39)	missense	possibly damaging	0.96
R6724:Nalcn	UTSW	14	123,535,479 (GRCm39)	missense	probably damaging	0.99
R6731:Nalcn	UTSW	14	123,837,346 (GRCm39)	missense	probably benign	0.22
R6957:Nalcn	UTSW	14	123,744,966 (GRCm39)	missense	probably damaging	0.96
R6970:Nalcn	UTSW	14	123,551,506 (GRCm39)	missense	possibly damaging	0.46
R7010:Nalcn	UTSW	14	123,530,877 (GRCm39)	missense	probably damaging	1.00
R7018:Nalcn	UTSW	14	123,647,233 (GRCm39)	missense	probably damaging	1.00
R7040:Nalcn	UTSW	14	123,525,267 (GRCm39)	missense	probably benign
R7089:Nalcn	UTSW	14	123,515,761 (GRCm39)	missense	probably benign	0.01
R7128:Nalcn	UTSW	14	123,831,914 (GRCm39)	missense	probably damaging	0.99
R7149:Nalcn	UTSW	14	123,837,277 (GRCm39)	missense	probably benign	0.02
R7361:Nalcn	UTSW	14	123,529,251 (GRCm39)	missense	probably benign	0.00
R7378:Nalcn	UTSW	14	123,540,302 (GRCm39)	missense	probably damaging	1.00
R7408:Nalcn	UTSW	14	123,529,272 (GRCm39)	missense	probably benign	0.00
R7470:Nalcn	UTSW	14	123,809,456 (GRCm39)	missense	probably benign	0.09
R7483:Nalcn	UTSW	14	123,551,499 (GRCm39)	missense	probably damaging	1.00
R7521:Nalcn	UTSW	14	123,530,870 (GRCm39)	missense	probably damaging	1.00
R7558:Nalcn	UTSW	14	123,723,797 (GRCm39)	critical splice donor site	probably null
R7585:Nalcn	UTSW	14	123,753,050 (GRCm39)	missense	probably damaging	1.00
R7591:Nalcn	UTSW	14	123,561,297 (GRCm39)	missense	probably benign	0.01
R7761:Nalcn	UTSW	14	123,531,792 (GRCm39)	missense	probably damaging	1.00
R7761:Nalcn	UTSW	14	123,531,791 (GRCm39)	missense	probably damaging	1.00
R7811:Nalcn	UTSW	14	123,536,357 (GRCm39)	missense	probably damaging	1.00
R7983:Nalcn	UTSW	14	123,830,409 (GRCm39)	missense	probably benign	0.17
R8089:Nalcn	UTSW	14	123,537,372 (GRCm39)	missense	probably damaging	1.00
R8110:Nalcn	UTSW	14	123,702,113 (GRCm39)	missense	probably benign	0.00
R8190:Nalcn	UTSW	14	123,837,351 (GRCm39)	missense	possibly damaging	0.69
R8273:Nalcn	UTSW	14	123,554,436 (GRCm39)	missense	probably damaging	1.00
R8407:Nalcn	UTSW	14	123,554,683 (GRCm39)	missense	probably damaging	1.00
R8497:Nalcn	UTSW	14	123,752,771 (GRCm39)	missense	probably damaging	1.00
R8544:Nalcn	UTSW	14	123,608,935 (GRCm39)	missense	probably benign	0.40
R8549:Nalcn	UTSW	14	123,607,448 (GRCm39)	missense	probably benign	0.01
R8731:Nalcn	UTSW	14	123,837,266 (GRCm39)	missense	probably benign	0.01
R8862:Nalcn	UTSW	14	123,647,199 (GRCm39)	missense	possibly damaging	0.96
R8919:Nalcn	UTSW	14	123,561,284 (GRCm39)	missense	probably benign	0.00
R9072:Nalcn	UTSW	14	123,532,863 (GRCm39)	missense	possibly damaging	0.66
R9073:Nalcn	UTSW	14	123,532,863 (GRCm39)	missense	possibly damaging	0.66
R9182:Nalcn	UTSW	14	123,834,016 (GRCm39)	missense	probably damaging	1.00
R9193:Nalcn	UTSW	14	123,545,792 (GRCm39)	nonsense	probably null
R9241:Nalcn	UTSW	14	123,809,429 (GRCm39)	missense	probably benign	0.00
R9267:Nalcn	UTSW	14	123,518,567 (GRCm39)	missense	probably benign	0.08
R9274:Nalcn	UTSW	14	123,753,068 (GRCm39)	missense	probably damaging	1.00
R9277:Nalcn	UTSW	14	123,518,523 (GRCm39)	missense	probably damaging	0.98
R9376:Nalcn	UTSW	14	123,515,713 (GRCm39)	missense	possibly damaging	0.74
X0060:Nalcn	UTSW	14	123,522,653 (GRCm39)	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123,831,980 (GRCm39)	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123,531,857 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18