Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02513:Nalf1'

296643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nalf1

Ensembl Gene

ENSMUSG00000079157

Gene Name

NALCN channel auxiliary factor 1

Synonyms

Fam155a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

IGL02513

Quality Score

Status

Chromosome

Chromosomal Location

9255902-9821161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9257930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 406 (D406V)

Ref Sequence

ENSEMBL: ENSMUSP00000106596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110969] [ENSMUST00000208933]

AlphaFold

Q8CCS2

Predicted Effect

probably benign
Transcript: ENSMUST00000110969
AA Change: D406V

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106596
Gene: ENSMUSG00000079157
AA Change: D406V

Domain	Start	End	E-Value	Type
low complexity region	74	110	N/A	INTRINSIC
low complexity region	132	164	N/A	INTRINSIC
low complexity region	426	440	N/A	INTRINSIC
low complexity region	449	459	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208855

Predicted Effect

probably benign
Transcript: ENSMUST00000208933

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,042,979 (GRCm39)	V787F	probably benign	Het
Atg14	T	C	14: 47,786,451 (GRCm39)	I268V	probably benign	Het
Atg14	T	A	14: 47,783,081 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,408,562 (GRCm39)		probably benign	Het
Ccdc9	A	G	7: 16,018,434 (GRCm39)		probably benign	Het
Cers6	T	C	2: 68,899,013 (GRCm39)	F217S	probably benign	Het
Crebbp	A	C	16: 3,944,469 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,049,869 (GRCm39)		probably benign	Het
Dmac2l	A	T	12: 69,787,819 (GRCm39)	Y85F	probably benign	Het
Eml1	T	A	12: 108,496,571 (GRCm39)	V609E	probably damaging	Het
Fryl	A	G	5: 73,222,636 (GRCm39)	S204P	probably damaging	Het
Gpr152	A	G	19: 4,192,843 (GRCm39)	D128G	probably damaging	Het
Itgal	T	A	7: 126,927,844 (GRCm39)	V1013D	possibly damaging	Het
Kctd18	A	G	1: 58,004,559 (GRCm39)	Y112H	probably damaging	Het
Kdm4d	T	A	9: 14,375,850 (GRCm39)	T3S	probably benign	Het
Lrp1b	C	T	2: 41,000,765 (GRCm39)		probably null	Het
Mex3c	T	A	18: 73,723,360 (GRCm39)	D484E	possibly damaging	Het
Nat14	T	C	7: 4,927,050 (GRCm39)	V74A	possibly damaging	Het
Or2b6	A	G	13: 21,823,510 (GRCm39)	F61S	probably damaging	Het
Pabpc2	C	T	18: 39,908,193 (GRCm39)	T486I	probably benign	Het
Pgm2	A	G	5: 64,260,289 (GRCm39)		probably benign	Het
Pkn3	T	A	2: 29,973,149 (GRCm39)	I353N	probably damaging	Het
Rbm44	T	A	1: 91,083,260 (GRCm39)	S594R	possibly damaging	Het
Rrbp1	C	T	2: 143,830,350 (GRCm39)	A606T	possibly damaging	Het
Tcof1	A	G	18: 60,964,850 (GRCm39)	V623A	possibly damaging	Het
Tg	A	G	15: 66,577,123 (GRCm39)	E1482G	probably benign	Het
Uba1	A	G	X: 20,541,885 (GRCm39)	T546A	probably benign	Het
Vmn2r37	T	C	7: 9,220,934 (GRCm39)	K310E	probably benign	Het
Zbtb38	A	T	9: 96,569,126 (GRCm39)	W653R	probably damaging	Het
Zdhhc19	A	T	16: 32,318,440 (GRCm39)	I99F	probably damaging	Het
Zfp236	T	C	18: 82,648,239 (GRCm39)	Y974C	probably damaging	Het

Other mutations in Nalf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01860:Nalf1	APN	8	9,257,831 (GRCm39)	missense	probably damaging	1.00
IGL02817:Nalf1	APN	8	9,257,994 (GRCm39)	missense	probably damaging	1.00
IGL03194:Nalf1	APN	8	9,282,975 (GRCm39)	missense	probably damaging	1.00
R0842:Nalf1	UTSW	8	9,820,114 (GRCm39)	missense	probably benign	0.26
R1928:Nalf1	UTSW	8	9,820,217 (GRCm39)	missense	probably benign
R2004:Nalf1	UTSW	8	9,820,607 (GRCm39)	missense	probably benign	0.00
R4155:Nalf1	UTSW	8	9,283,023 (GRCm39)	missense	possibly damaging	0.87
R4783:Nalf1	UTSW	8	9,258,026 (GRCm39)	missense	probably damaging	1.00
R5019:Nalf1	UTSW	8	9,820,240 (GRCm39)	missense	probably benign	0.13
R5333:Nalf1	UTSW	8	9,820,762 (GRCm39)	missense	possibly damaging	0.46
R6798:Nalf1	UTSW	8	9,820,205 (GRCm39)	nonsense	probably null
R6956:Nalf1	UTSW	8	9,820,744 (GRCm39)	missense	probably benign	0.36
R7034:Nalf1	UTSW	8	9,820,589 (GRCm39)	missense	possibly damaging	0.95
R8039:Nalf1	UTSW	8	9,257,892 (GRCm39)	missense	probably benign	0.03
R8382:Nalf1	UTSW	8	9,257,972 (GRCm39)	missense	probably benign	0.05
R9299:Nalf1	UTSW	8	9,820,156 (GRCm39)	missense	probably damaging	1.00
R9342:Nalf1	UTSW	8	9,821,006 (GRCm39)	missense	probably damaging	0.99
R9658:Nalf1	UTSW	8	9,820,114 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16