Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01515:Necab3'

89340

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Necab3

Ensembl Gene

ENSMUSG00000027489

Gene Name

N-terminal EF-hand calcium binding protein 3

Synonyms

Apba2bp, XB51, 2900010M17Rik, Nip1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL01515

Quality Score

Status

Chromosome

Chromosomal Location

154386319-154400810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154396611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 72 (S72T)

Ref Sequence

ENSEMBL: ENSMUSP00000117090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000103145] [ENSMUST00000104928] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793] [ENSMUST00000226583]

AlphaFold

Q9D6J4

Predicted Effect

probably benign
Transcript: ENSMUST00000000894

SMART Domains

Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:E2F_TDP	77	142	1.1e-25	PFAM
low complexity region	156	173	N/A	INTRINSIC
low complexity region	273	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000000895
AA Change: S106T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489
AA Change: S106T

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	58	7.3e-8	PFAM
Pfam:EF-hand_5	32	57	4.6e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
coiled coil region	209	237	N/A	INTRINSIC
Pfam:ABM	252	327	4.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045116

SMART Domains

Protein: ENSMUSP00000035523
Gene: ENSMUSG00000038523

Domain	Start	End	E-Value	Type
Pfam:Bclt	1	194	2.1e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103145

SMART Domains

Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
E2F_TDP	122	187	1.63e-30	SMART
Pfam:E2F_CC-MB	201	294	2.2e-37	PFAM
low complexity region	318	340	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000104928

SMART Domains

Protein: ENSMUSP00000100532
Gene: ENSMUSG00000078129

Domain	Start	End	E-Value	Type
ACTIN	2	345	2.52e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109709

SMART Domains

Protein: ENSMUSP00000105331
Gene: ENSMUSG00000038523

Domain	Start	End	E-Value	Type
Pfam:Bclt	1	207	1.9e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109716
AA Change: S106T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489
AA Change: S106T

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	59	6.9e-8	PFAM
Pfam:EF-hand_5	32	57	1.7e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
Pfam:ABM	232	303	2.7e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125793
AA Change: S72T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489
AA Change: S72T

Domain	Start	End	E-Value	Type
low complexity region	146	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135530

Predicted Effect

probably benign
Transcript: ENSMUST00000226583

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,047,289 (GRCm39)	V588E	probably damaging	Het
Ar	C	T	X: 97,295,453 (GRCm39)		probably benign	Het
B4galt7	C	A	13: 55,757,035 (GRCm39)	Q243K	probably damaging	Het
Cdhr2	A	T	13: 54,866,051 (GRCm39)	T284S	probably benign	Het
Chdh	G	A	14: 29,758,843 (GRCm39)	R596H	probably damaging	Het
Cyp2r1	T	C	7: 114,151,947 (GRCm39)		probably benign	Het
Cyp3a44	A	T	5: 145,736,228 (GRCm39)	L74*	probably null	Het
Dnah8	A	T	17: 30,867,459 (GRCm39)	I304L	probably benign	Het
Fam171b	G	A	2: 83,710,577 (GRCm39)	E750K	probably damaging	Het
Fbxo38	T	A	18: 62,651,642 (GRCm39)	E554D	probably benign	Het
Fnd3c2	T	C	X: 105,282,093 (GRCm39)	K721E	probably damaging	Het
Gpam	A	G	19: 55,075,883 (GRCm39)	L243P	probably damaging	Het
Heph	A	G	X: 95,601,706 (GRCm39)	E1032G	probably damaging	Het
Igf1r	T	A	7: 67,857,200 (GRCm39)	V1054E	probably damaging	Het
Inpp4b	A	G	8: 82,679,340 (GRCm39)	S331G	possibly damaging	Het
Ints11	A	T	4: 155,959,689 (GRCm39)	I99F	probably damaging	Het
Jak3	G	A	8: 72,133,206 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,304 (GRCm39)	Y437C	probably benign	Het
Lin28a	A	G	4: 133,746,020 (GRCm39)		probably null	Het
Macc1	A	C	12: 119,414,106 (GRCm39)	K761Q	probably damaging	Het
Myom2	A	G	8: 15,172,655 (GRCm39)	D1194G	probably benign	Het
Naga	C	A	15: 82,214,360 (GRCm39)	V384F	probably benign	Het
Or4a27	G	A	2: 88,559,352 (GRCm39)	T197I	probably benign	Het
Or51i2	A	G	7: 103,689,183 (GRCm39)	Y60C	probably benign	Het
Ptpn13	C	T	5: 103,703,979 (GRCm39)	S1337L	probably benign	Het
Slitrk2	C	T	X: 65,699,248 (GRCm39)	P580S	probably damaging	Het
Tpsg1	A	G	17: 25,592,936 (GRCm39)	D67G	probably damaging	Het
Tsc22d1	T	C	14: 76,742,739 (GRCm39)		probably null	Het

Other mutations in Necab3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Necab3	APN	2	154,389,488 (GRCm39)	unclassified	probably benign
IGL02438:Necab3	APN	2	154,387,964 (GRCm39)	missense	probably damaging	1.00
IGL03150:Necab3	APN	2	154,396,662 (GRCm39)	missense	probably damaging	1.00
R0092:Necab3	UTSW	2	154,400,659 (GRCm39)	missense	possibly damaging	0.89
R0102:Necab3	UTSW	2	154,387,232 (GRCm39)	missense	probably damaging	1.00
R0102:Necab3	UTSW	2	154,387,232 (GRCm39)	missense	probably damaging	1.00
R0219:Necab3	UTSW	2	154,388,013 (GRCm39)	missense	probably benign	0.17
R0656:Necab3	UTSW	2	154,388,223 (GRCm39)	missense	probably null	0.28
R1728:Necab3	UTSW	2	154,388,795 (GRCm39)	missense	probably benign	0.09
R1729:Necab3	UTSW	2	154,388,795 (GRCm39)	missense	probably benign	0.09
R2192:Necab3	UTSW	2	154,388,999 (GRCm39)	missense	possibly damaging	0.62
R4622:Necab3	UTSW	2	154,397,502 (GRCm39)	critical splice donor site	probably null
R5434:Necab3	UTSW	2	154,389,379 (GRCm39)	missense	probably damaging	1.00
R5577:Necab3	UTSW	2	154,387,076 (GRCm39)	splice site	probably null
R6603:Necab3	UTSW	2	154,396,842 (GRCm39)	missense	probably damaging	1.00
R7792:Necab3	UTSW	2	154,388,200 (GRCm39)	missense	probably damaging	1.00
R8195:Necab3	UTSW	2	154,389,363 (GRCm39)	missense	probably benign	0.05
R8831:Necab3	UTSW	2	154,396,607 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03