Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00908:Ncald'

29039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncald

Ensembl Gene

ENSMUSG00000051359

Gene Name

neurocalcin delta

Synonyms

D030020D09Rik, D15Ertd412e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00908

Quality Score

Status

Chromosome

Chromosomal Location

37366419-37792814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37372451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 131 (M131I)

Ref Sequence

ENSEMBL: ENSMUSP00000130126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000153775] [ENSMUST00000168992]

AlphaFold

Q91X97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090150
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116445
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116758

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119730
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120746
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148652
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
Pfam:EF-hand_5	149	163	1.2e-4	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153775
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	174	1.4e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168992
AA Change: M131I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: M131I

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185617

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 the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele could not be generated. Mice heterozygous for the targeted allele exhibit increased systemic arterial systolic blood pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	G	T	15: 83,206,790 (GRCm39)	P266Q	probably benign	Het
Atp6v1b2	T	A	8: 69,548,918 (GRCm39)	D61E	probably benign	Het
Cad	T	C	5: 31,216,398 (GRCm39)	I190T	possibly damaging	Het
Chd9	C	T	8: 91,723,508 (GRCm39)	T558I	probably damaging	Het
Dmkn	G	A	7: 30,477,695 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ifi213	A	T	1: 173,422,649 (GRCm39)	V72E	probably damaging	Het
Ift122	A	G	6: 115,890,870 (GRCm39)	D803G	probably benign	Het
Il2rg	A	T	X: 100,308,454 (GRCm39)		probably benign	Het
Ing2	T	C	8: 48,122,296 (GRCm39)	Q84R	possibly damaging	Het
Kdm6a	T	C	X: 18,102,905 (GRCm39)	F211L	possibly damaging	Het
Lmnb2	T	C	10: 80,745,821 (GRCm39)	D105G	probably damaging	Het
Magee2	A	G	X: 103,900,447 (GRCm39)	I68T	probably benign	Het
Magi2	T	A	5: 20,596,299 (GRCm39)	D415E	probably benign	Het
Mospd2	C	T	X: 163,745,121 (GRCm39)	R135Q	probably damaging	Het
Mysm1	T	C	4: 94,847,172 (GRCm39)	D508G	probably damaging	Het
Naip2	T	C	13: 100,297,157 (GRCm39)	I960V	probably benign	Het
Nup188	T	C	2: 30,223,412 (GRCm39)	S1096P	probably damaging	Het
Plekha5	G	A	6: 140,496,656 (GRCm39)	E69K	probably damaging	Het
Ppp1cb	C	T	5: 32,635,412 (GRCm39)	R19*	probably null	Het
Rasl11b	G	A	5: 74,356,772 (GRCm39)	V50I	probably damaging	Het
Robo2	C	T	16: 73,782,579 (GRCm39)	R319K	probably damaging	Het
Trip4	T	C	9: 65,782,216 (GRCm39)	D172G	probably damaging	Het
Zc3h7a	G	A	16: 10,963,106 (GRCm39)	R752C	probably damaging	Het

Other mutations in Ncald

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02373:Ncald	APN	15	37,372,453 (GRCm39)	missense	probably benign	0.05
R0507:Ncald	UTSW	15	37,397,528 (GRCm39)	missense	probably benign	0.03
R1168:Ncald	UTSW	15	37,397,578 (GRCm39)	missense	probably damaging	0.99
R1700:Ncald	UTSW	15	37,397,587 (GRCm39)	missense	probably benign	0.04
R1914:Ncald	UTSW	15	37,397,324 (GRCm39)	missense	probably benign	0.00
R1915:Ncald	UTSW	15	37,397,324 (GRCm39)	missense	probably benign	0.00
R2057:Ncald	UTSW	15	37,397,423 (GRCm39)	missense	possibly damaging	0.93
R3873:Ncald	UTSW	15	37,397,497 (GRCm39)	missense	probably damaging	1.00
R4612:Ncald	UTSW	15	37,397,593 (GRCm39)	missense	probably benign	0.04
R5071:Ncald	UTSW	15	37,397,478 (GRCm39)	missense	probably damaging	1.00
R5073:Ncald	UTSW	15	37,397,478 (GRCm39)	missense	probably damaging	1.00
R5074:Ncald	UTSW	15	37,397,478 (GRCm39)	missense	probably damaging	1.00
R6183:Ncald	UTSW	15	37,397,476 (GRCm39)	missense	probably damaging	1.00
R7036:Ncald	UTSW	15	37,369,122 (GRCm39)	missense	probably benign	0.00
R7334:Ncald	UTSW	15	37,397,524 (GRCm39)	missense	probably damaging	0.99
R7764:Ncald	UTSW	15	37,397,454 (GRCm39)	missense	probably damaging	1.00
R8286:Ncald	UTSW	15	37,397,505 (GRCm39)	nonsense	probably null
R8983:Ncald	UTSW	15	37,397,512 (GRCm39)	missense	probably damaging	1.00
R9488:Ncald	UTSW	15	37,372,369 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17