Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Nucb1'

12796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nucb1

Ensembl Gene

ENSMUSG00000030824

Gene Name

nucleobindin 1

Synonyms

B230337F23Rik, Calnuc, MTEST82

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

45490458-45510406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45501651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 102 (L102P)

Ref Sequence

ENSEMBL: ENSMUSP00000147383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000209436] [ENSMUST00000210813] [ENSMUST00000211343] [ENSMUST00000211765] [ENSMUST00000211682]

AlphaFold

Q02819

Predicted Effect

probably damaging
Transcript: ENSMUST00000033096
AA Change: L102P

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

SMART Domains

Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824
AA Change: L102P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:EF-hand_7	227	319	2.1e-9	PFAM
coiled coil region	340	407	N/A	INTRINSIC
low complexity region	420	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107758

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	4.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107759

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	444	3.4e-117	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209436
AA Change: L102P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210394

Predicted Effect

probably benign
Transcript: ENSMUST00000210449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210675

Predicted Effect

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably damaging
Transcript: ENSMUST00000211343
AA Change: L66P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211413

Predicted Effect

probably damaging
Transcript: ENSMUST00000211765
AA Change: L102P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211682
AA Change: L102P

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

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 member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,309,450		probably null	Het
Dusp23	T	C	1: 172,631,632		probably benign	Het
Invs	C	T	4: 48,407,689	Q555*	probably null	Het
Mak16	T	C	8: 31,166,750	N9D	probably benign	Het
Mrps7	T	C	11: 115,604,858	I74T	possibly damaging	Het
Nlrp4a	T	G	7: 26,449,985	V339G	possibly damaging	Het
Pdp2	T	C	8: 104,594,197	M226T	probably benign	Het
Pik3r2	T	C	8: 70,770,429	D449G	probably damaging	Het
Rnf157	G	A	11: 116,362,355	P76S	probably benign	Het
Senp6	C	A	9: 80,113,838	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,742,658	E349G	probably damaging	Het
Snx14	G	T	9: 88,402,190	S475Y	probably damaging	Het
Vmn1r180	A	T	7: 23,952,523	H37L	probably benign	Het
Wdr66	T	G	5: 123,274,177	I84S	probably damaging	Het
Xrn1	A	T	9: 96,038,949	H1371L	probably benign	Het

Other mutations in Nucb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02496:Nucb1	APN	7	45495043	splice site	probably benign
G1citation:Nucb1	UTSW	7	45498865	missense	probably damaging	1.00
R1509:Nucb1	UTSW	7	45495225	missense	probably benign	0.06
R1663:Nucb1	UTSW	7	45498864	missense	probably damaging	1.00
R3499:Nucb1	UTSW	7	45498876	missense	probably benign	0.01
R4291:Nucb1	UTSW	7	45495280	missense	probably damaging	1.00
R4983:Nucb1	UTSW	7	45498889	missense	probably damaging	1.00
R5307:Nucb1	UTSW	7	45498418	missense	probably damaging	0.98
R5739:Nucb1	UTSW	7	45501660	missense	probably damaging	1.00
R6822:Nucb1	UTSW	7	45498865	missense	probably damaging	1.00
R6874:Nucb1	UTSW	7	45503194	missense	probably benign	0.13
R6927:Nucb1	UTSW	7	45498858	missense	possibly damaging	0.58
R7424:Nucb1	UTSW	7	45498778	missense	possibly damaging	0.68
R7514:Nucb1	UTSW	7	45501718	splice site	probably null
R9617:Nucb1	UTSW	7	45498735	missense	probably benign	0.06
R9653:Nucb1	UTSW	7	45494778	missense	probably benign	0.01

Posted On

2012-12-06