Mutagenetix > Incidental Mutation

Incidental Mutation 'R5434:Necab3'

428193

Institutional Source

Beutler Lab

Gene Symbol

Necab3

Ensembl Gene

ENSMUSG00000027489

Gene Name

N-terminal EF-hand calcium binding protein 3

Synonyms

Apba2bp, XB51, 2900010M17Rik, Nip1

MMRRC Submission

042999-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R5434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154386319-154400810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154389379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 121 (S121P)

Ref Sequence

ENSEMBL: ENSMUSP00000117090 (fasta)

Gene Model

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

AlphaFold

Q9D6J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000000895
AA Change: S155P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489
AA Change: S155P

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: 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 damaging
Transcript: ENSMUST00000109716
AA Change: S155P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489
AA Change: S155P

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

noncoding transcript
Transcript: ENSMUST00000124382

Predicted Effect

probably damaging
Transcript: ENSMUST00000125793
AA Change: S121P

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

SMART Domains

Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489
AA Change: S121P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130824

Predicted Effect

probably benign
Transcript: ENSMUST00000226583

Meta Mutation Damage Score

0.0976

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	G	T	9: 20,786,821 (GRCm39)	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,344,013 (GRCm39)	Y323C	probably damaging	Het
Arid5b	T	A	10: 67,932,719 (GRCm39)	H818L	possibly damaging	Het
Atg13	G	T	2: 91,515,110 (GRCm39)		probably null	Het
Bltp1	A	C	3: 36,929,665 (GRCm39)	D94A	probably damaging	Het
Bop1	T	C	15: 76,339,611 (GRCm39)	M245V	probably benign	Het
Ces2a	T	A	8: 105,464,041 (GRCm39)	F224L	probably damaging	Het
Cntnap5b	A	G	1: 99,999,926 (GRCm39)	H228R	probably benign	Het
Col9a2	A	T	4: 120,898,162 (GRCm39)	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744 (GRCm39)	T137N	probably benign	Het
Dennd4c	A	G	4: 86,729,693 (GRCm39)	N765S	probably benign	Het
Dnah12	A	G	14: 26,581,256 (GRCm39)	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,010,756 (GRCm39)	C123F	possibly damaging	Het
Flvcr1	C	A	1: 190,758,206 (GRCm39)	A29S	probably benign	Het
Frmd3	A	T	4: 74,106,033 (GRCm39)	I560F	probably damaging	Het
Galnt15	G	A	14: 31,771,800 (GRCm39)	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,006,405 (GRCm39)	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464 (GRCm39)	Y218*	probably null	Het
Hmcn2	C	A	2: 31,310,375 (GRCm39)	T3323N	probably damaging	Het
Idh1	T	A	1: 65,214,495 (GRCm39)	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,322,813 (GRCm39)		noncoding transcript	Het
Kcnj10	T	A	1: 172,197,047 (GRCm39)	V187E	probably damaging	Het
Khnyn	A	G	14: 56,124,957 (GRCm39)	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,660,880 (GRCm39)	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,500,862 (GRCm39)	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mgp	T	A	6: 136,849,772 (GRCm39)	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,448,588 (GRCm39)	H40Q	probably benign	Het
Nfkb1	T	A	3: 135,332,372 (GRCm39)	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861 (GRCm39)	R486W	probably damaging	Het
Nwd2	A	G	5: 63,964,991 (GRCm39)	K1525R	probably benign	Het
Odad2	T	C	18: 7,222,550 (GRCm39)	K573R	probably benign	Het
Pbrm1	G	T	14: 30,806,968 (GRCm39)	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,237,783 (GRCm39)	S872P	possibly damaging	Het
Retsat	A	G	6: 72,578,518 (GRCm39)	I77V	probably damaging	Het
Rpl32	A	G	6: 115,783,996 (GRCm39)	F77L	probably benign	Het
Ryr3	A	T	2: 112,624,814 (GRCm39)	V2202D	probably damaging	Het
Sars2	G	A	7: 28,449,716 (GRCm39)	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,006,263 (GRCm39)	T275N	probably benign	Het
Sf3a1	C	A	11: 4,124,041 (GRCm39)	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,025,744 (GRCm39)		probably benign	Het
St3gal3	A	G	4: 117,797,247 (GRCm39)	L332P	probably damaging	Het
Ston1	A	G	17: 88,952,739 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,018,649 (GRCm39)	S3383T	probably damaging	Het
Tektl1	A	T	10: 78,584,484 (GRCm39)	L346*	probably null	Het
Tnfsf14	A	G	17: 57,499,592 (GRCm39)	S87P	probably benign	Het
Trap1	T	C	16: 3,862,529 (GRCm39)	D583G	probably benign	Het
Ube3d	A	T	9: 86,309,460 (GRCm39)	I212N	possibly damaging	Het
Usp34	T	A	11: 23,362,271 (GRCm39)	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,628,387 (GRCm39)	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,767,470 (GRCm39)	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	C	T	3: 159,639,976 (GRCm39)	R536C	probably damaging	Het
Zfhx3	A	G	8: 109,519,031 (GRCm39)	D51G	probably damaging	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
IGL01515:Necab3	APN	2	154,396,611 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCCTGGGTCTTTGAAGCC -3'
(R):5'- AAGTGAGTGGTAACTAGCTTGTGC -3'

Sequencing Primer
(F):5'- TGGGTCTTTGAAGCCCAGCC -3'
(R):5'- CTTGTGCTGGCCTGCATGC -3'

Posted On

2016-09-01