Mutagenetix > Incidental Mutation

Incidental Mutation 'R0842:Nalf1'

77212

Institutional Source

Beutler Lab

Gene Symbol

Nalf1

Ensembl Gene

ENSMUSG00000079157

Gene Name

NALCN channel auxiliary factor 1

Synonyms

Fam155a

MMRRC Submission

039021-MU

Accession Numbers

Essential gene?

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

Stock #

R0842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9255902-9821161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9820114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 302 (D302V)

Ref Sequence

ENSEMBL: ENSMUSP00000146609 (fasta)

Gene Model

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

AlphaFold

Q8CCS2

Predicted Effect

probably benign
Transcript: ENSMUST00000110969
AA Change: D302V

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106596
Gene: ENSMUSG00000079157
AA Change: D302V

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: ENSMUST00000196300

Predicted Effect

probably benign
Transcript: ENSMUST00000207869

Predicted Effect

probably benign
Transcript: ENSMUST00000208933
AA Change: D302V

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl8	C	A	9: 21,746,972 (GRCm39)	Y53*	probably null	Het
Apbb1ip	G	A	2: 22,757,678 (GRCm39)	R432Q	possibly damaging	Het
Catsperb	A	T	12: 101,429,307 (GRCm39)	Q160L	probably damaging	Het
Cdhr18	G	A	14: 13,856,686 (GRCm38)	S475L	probably benign	Het
Cilp2	T	C	8: 70,335,768 (GRCm39)	Y410C	probably damaging	Het
Cntnap5a	G	A	1: 116,369,953 (GRCm39)	G857S	probably damaging	Het
D630045J12Rik	A	T	6: 38,125,400 (GRCm39)	V1538E	probably damaging	Het
Dnah7a	A	G	1: 53,540,833 (GRCm39)	S2514P	possibly damaging	Het
Eme1	C	T	11: 94,541,700 (GRCm39)	A41T	probably benign	Het
F11	T	C	8: 45,705,196 (GRCm39)	Y115C	probably damaging	Het
Fap	A	T	2: 62,367,345 (GRCm39)	W313R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Ggt6	T	A	11: 72,328,088 (GRCm39)	L158*	probably null	Het
Herc2	A	C	7: 55,771,453 (GRCm39)	I1072L	probably benign	Het
Hhat	T	C	1: 192,408,639 (GRCm39)	N164S	probably benign	Het
Klrb1	A	G	6: 128,687,008 (GRCm39)		probably null	Het
L3mbtl4	T	A	17: 68,793,957 (GRCm39)	D320E	probably benign	Het
Lyst	C	A	13: 13,852,826 (GRCm39)	Y2275*	probably null	Het
Map4k3	T	C	17: 80,913,412 (GRCm39)	N611S	probably benign	Het
Morc3	T	C	16: 93,670,284 (GRCm39)		probably null	Het
Mtr	A	C	13: 12,215,133 (GRCm39)	Y864D	probably damaging	Het
Myh2	C	T	11: 67,070,350 (GRCm39)	A431V	possibly damaging	Het
Myo9a	C	A	9: 59,778,350 (GRCm39)	Q1369K	probably benign	Het
Nat3	T	C	8: 68,000,649 (GRCm39)	I176T	probably benign	Het
Ncapd3	C	T	9: 26,948,380 (GRCm39)	T54I	probably benign	Het
Nfyc	C	A	4: 120,616,574 (GRCm39)	E281D	probably benign	Het
Nlrp14	A	G	7: 106,782,342 (GRCm39)	D513G	probably benign	Het
Pacsin2	T	C	15: 83,263,382 (GRCm39)	E83G	probably damaging	Het
Plagl1	G	T	10: 13,004,298 (GRCm39)		probably benign	Het
Pmpcb	T	C	5: 21,953,772 (GRCm39)	L340P	possibly damaging	Het
Pou2af3	T	C	9: 51,183,668 (GRCm39)	E102G	probably benign	Het
Pou2f2	A	T	7: 24,796,355 (GRCm39)	L364Q	probably damaging	Het
Rab1b	A	T	19: 5,154,697 (GRCm39)	I84N	probably damaging	Het
Ric3	T	C	7: 108,638,087 (GRCm39)	Y222C	probably damaging	Het
Samhd1	A	G	2: 156,965,251 (GRCm39)	V188A	probably damaging	Het
Socs4	T	A	14: 47,527,426 (GRCm39)	H107Q	probably damaging	Het
Tex15	T	A	8: 34,061,575 (GRCm39)	I335K	possibly damaging	Het
Thoc2l	T	A	5: 104,667,066 (GRCm39)	N529K	possibly damaging	Het
Thop1	C	A	10: 80,911,411 (GRCm39)	T99K	probably damaging	Het
Tnik	A	G	3: 28,648,235 (GRCm39)	E429G	possibly damaging	Het
Vmn2r106	T	A	17: 20,488,465 (GRCm39)	I645F	probably damaging	Het
Zscan29	T	A	2: 120,991,960 (GRCm39)	R609S	possibly 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
IGL03194:Nalf1	APN	8	9,282,975 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGCGAAGCTCGAAGAAACAGCTC -3'
(R):5'- CTGTCCAGCCCCAGTACTTTGAAC -3'

Sequencing Primer
(F):5'- GATAGACTTCCCTGATGTACCAAGAG -3'
(R):5'- ACCACGTGTAGACAGTGCAT -3'

Posted On

2013-10-16