Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03194:Nalf1'

412752

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 #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

9255902-9821161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9282975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 358 (D358G)

Ref Sequence

ENSEMBL: ENSMUSP00000146609 (fasta)

Gene Model

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

AlphaFold

Q8CCS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000110969
AA Change: D358G

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

SMART Domains

Protein: ENSMUSP00000106596
Gene: ENSMUSG00000079157
AA Change: D358G

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 damaging
Transcript: ENSMUST00000208933
AA Change: D358G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,460,647 (GRCm39)	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,369,522 (GRCm39)	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,177,946 (GRCm39)	G87D	probably benign	Het
Disp2	A	T	2: 118,618,110 (GRCm39)	R219W	probably damaging	Het
Dnaaf11	A	T	15: 66,314,048 (GRCm39)	D317E	probably benign	Het
Dstyk	A	T	1: 132,384,054 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,302,240 (GRCm39)	S451G	possibly damaging	Het
Fat2	T	A	11: 55,201,821 (GRCm39)	T418S	probably benign	Het
Fto	G	A	8: 92,136,415 (GRCm39)	D228N	probably damaging	Het
Gins4	A	T	8: 23,724,762 (GRCm39)		probably benign	Het
Gm10220	T	A	5: 26,326,231 (GRCm39)	R40W	probably damaging	Het
Gm11149	G	A	9: 49,457,646 (GRCm39)		probably benign	Het
Gm5431	T	G	11: 48,786,364 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,132,190 (GRCm39)	M59T	probably benign	Het
Lrp1	A	T	10: 127,404,554 (GRCm39)	V1989D	probably damaging	Het
Ltc4s	T	C	11: 50,127,398 (GRCm39)	*151W	probably null	Het
Map3k21	A	G	8: 126,650,801 (GRCm39)	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,896,444 (GRCm39)	L164P	probably damaging	Het
Mroh4	T	C	15: 74,483,388 (GRCm39)	T650A	probably damaging	Het
Mss51	T	C	14: 20,535,165 (GRCm39)	N202D	probably benign	Het
Mtus2	G	A	5: 148,043,913 (GRCm39)	A834T	probably damaging	Het
Ncoa6	A	G	2: 155,257,788 (GRCm39)	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Npvf	A	C	6: 50,627,878 (GRCm39)	D180E	possibly damaging	Het
Nup188	A	T	2: 30,194,346 (GRCm39)	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,897,018 (GRCm39)	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,381,531 (GRCm39)	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Rara	T	C	11: 98,862,490 (GRCm39)	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,782,017 (GRCm39)	E567G	probably damaging	Het
Tnxb	C	T	17: 34,914,921 (GRCm39)	Q1970*	probably null	Het
Usp11	T	C	X: 20,578,656 (GRCm39)	I162T	probably benign	Het
Utrn	A	G	10: 12,282,173 (GRCm39)		probably benign	Het
Zfhx3	A	G	8: 109,521,359 (GRCm39)	E827G	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
IGL02513:Nalf1	APN	8	9,257,930 (GRCm39)	missense	probably benign	0.44
IGL02817:Nalf1	APN	8	9,257,994 (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

2016-08-02