Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02347:Nucb2'

289324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nucb2

Ensembl Gene

ENSMUSG00000030659

Gene Name

nucleobindin 2

Synonyms

NEFA, nesfatin-1, Calnuc

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

116103604-116139819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116135113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 340 (Q340P)

Ref Sequence

ENSEMBL: ENSMUSP00000032895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032895] [ENSMUST00000183175]

AlphaFold

P81117

Predicted Effect

probably benign
Transcript: ENSMUST00000032895
AA Change: Q340P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659
AA Change: Q340P

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	196	213	N/A	INTRINSIC
EFh	245	273	5.63e-1	SMART
EFh	297	325	6.56e0	SMART
coiled coil region	341	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183175
AA Change: Q340P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659
AA Change: Q340P

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	196	213	N/A	INTRINSIC
EFh	245	273	5.63e-1	SMART
EFh	297	325	6.56e0	SMART
coiled coil region	341	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183335

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 protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,835 (GRCm39)	K35*	probably null	Het
Adad2	G	T	8: 120,343,408 (GRCm39)	G546V	probably damaging	Het
Bccip	A	G	7: 133,311,105 (GRCm39)	K7E	probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Car12	T	A	9: 66,671,629 (GRCm39)	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,274,681 (GRCm39)	R299C	probably benign	Het
Dnah10	A	C	5: 124,910,487 (GRCm39)		probably null	Het
Eddm13	A	G	7: 6,272,883 (GRCm39)	I79M	possibly damaging	Het
Egf	A	T	3: 129,472,026 (GRCm39)	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,769,600 (GRCm39)	W568R	possibly damaging	Het
Eif1ad14	T	C	12: 87,886,359 (GRCm39)	D90G	probably damaging	Het
Emc3	A	G	6: 113,497,533 (GRCm39)	M106T	possibly damaging	Het
Fam13b	T	C	18: 34,587,757 (GRCm39)	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,387,929 (GRCm39)	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023 (GRCm39)		probably null	Het
Glis3	A	G	19: 28,509,283 (GRCm39)	F234L	probably benign	Het
Grap2	T	C	15: 80,530,557 (GRCm39)		probably benign	Het
H2-M10.2	T	A	17: 36,596,505 (GRCm39)	E113D	probably benign	Het
Itgb6	T	C	2: 60,441,756 (GRCm39)	T685A	probably benign	Het
Mrpl19	A	T	6: 81,938,992 (GRCm39)	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734 (GRCm39)		probably benign	Het
Msr1	G	T	8: 40,085,778 (GRCm39)	T34K	probably damaging	Het
Npc1	C	T	18: 12,332,691 (GRCm39)	V780M	probably benign	Het
Nsun6	A	G	2: 15,034,831 (GRCm39)		probably benign	Het
Nt5c2	A	G	19: 46,912,695 (GRCm39)		probably benign	Het
Nup50l	A	T	6: 96,142,511 (GRCm39)	Y178N	probably damaging	Het
Or2l13b	A	G	16: 19,349,529 (GRCm39)	L47P	probably damaging	Het
Or3a1b	C	T	11: 74,012,397 (GRCm39)	T94I	probably benign	Het
Osgin1	A	G	8: 120,172,277 (GRCm39)	E357G	probably benign	Het
Pabpc6	C	T	17: 9,887,993 (GRCm39)	R186K	probably benign	Het
Pex1	A	G	5: 3,653,350 (GRCm39)	K83R	probably damaging	Het
Ppid	A	G	3: 79,502,526 (GRCm39)	I82V	probably benign	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rcn1	A	T	2: 105,229,471 (GRCm39)	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,707,629 (GRCm39)		probably benign	Het
Rnf148	A	G	6: 23,654,729 (GRCm39)	V89A	probably benign	Het
Siglecf	G	A	7: 43,001,145 (GRCm39)	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,149,780 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Sos2	A	T	12: 69,643,520 (GRCm39)	D953E	probably benign	Het
Strbp	A	C	2: 37,535,660 (GRCm39)	V16G	probably benign	Het
Sycp1	A	T	3: 102,800,863 (GRCm39)	M567K	probably benign	Het
Tedc2	A	C	17: 24,439,584 (GRCm39)	V19G	probably damaging	Het
Tjp1	A	G	7: 64,950,812 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,539,564 (GRCm39)	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 12,836,574 (GRCm39)	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,316,067 (GRCm39)	T488A	possibly damaging	Het
Zfp541	A	G	7: 15,817,390 (GRCm39)	Y945C	probably damaging	Het

Other mutations in Nucb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Nucb2	APN	7	116,121,066 (GRCm39)	splice site	probably benign
R0017:Nucb2	UTSW	7	116,132,386 (GRCm39)	missense	probably benign	0.01
R0017:Nucb2	UTSW	7	116,132,386 (GRCm39)	missense	probably benign	0.01
R0207:Nucb2	UTSW	7	116,135,245 (GRCm39)	missense	probably damaging	1.00
R0690:Nucb2	UTSW	7	116,135,086 (GRCm39)	splice site	probably benign
R1526:Nucb2	UTSW	7	116,123,642 (GRCm39)	critical splice donor site	probably null
R3964:Nucb2	UTSW	7	116,128,110 (GRCm39)	missense	probably damaging	1.00
R3966:Nucb2	UTSW	7	116,128,110 (GRCm39)	missense	probably damaging	1.00
R4154:Nucb2	UTSW	7	116,126,902 (GRCm39)	missense	probably benign	0.00
R4619:Nucb2	UTSW	7	116,127,059 (GRCm39)	critical splice donor site	probably null
R4705:Nucb2	UTSW	7	116,139,262 (GRCm39)	critical splice donor site	probably null
R4913:Nucb2	UTSW	7	116,123,540 (GRCm39)	nonsense	probably null
R4934:Nucb2	UTSW	7	116,139,199 (GRCm39)	missense	possibly damaging	0.93
R5210:Nucb2	UTSW	7	116,128,222 (GRCm39)	missense	probably damaging	1.00
R7227:Nucb2	UTSW	7	116,125,311 (GRCm39)	missense	probably damaging	1.00
R7776:Nucb2	UTSW	7	116,128,248 (GRCm39)	missense	probably damaging	1.00
R7899:Nucb2	UTSW	7	116,121,205 (GRCm39)	missense	probably benign	0.01
R8200:Nucb2	UTSW	7	116,132,398 (GRCm39)	critical splice donor site	probably null
R8743:Nucb2	UTSW	7	116,128,065 (GRCm39)	missense	probably damaging	1.00
R8818:Nucb2	UTSW	7	116,121,136 (GRCm39)	missense	possibly damaging	0.78
R8977:Nucb2	UTSW	7	116,128,063 (GRCm39)	missense	probably benign	0.05
R9072:Nucb2	UTSW	7	116,125,631 (GRCm39)	missense	probably damaging	1.00
R9182:Nucb2	UTSW	7	116,121,070 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16