Mutagenetix > Incidental Mutations

Incidental Mutation 'R1251:Necab1'

151746

Institutional Source

Beutler Lab

Gene Symbol

Necab1

Ensembl Gene

ENSMUSG00000040536

Gene Name

N-terminal EF-hand calcium binding protein 1

Synonyms

1700003H21Rik, Efcbp1, NECAB1, STIP-1

MMRRC Submission

039318-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14952245-15149794 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 15111192 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041606] [ENSMUST00000108273]

Predicted Effect

probably null
Transcript: ENSMUST00000041606

SMART Domains

Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
EFh	30	58	4.06e-2	SMART
EFh	64	92	6.56e0	SMART
coiled coil region	135	163	N/A	INTRINSIC
coiled coil region	209	244	N/A	INTRINSIC
Pfam:ABM	251	326	2.1e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108273

SMART Domains

Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
EFh	30	58	4.06e-2	SMART
EFh	64	92	6.56e0	SMART
coiled coil region	135	163	N/A	INTRINSIC
coiled coil region	209	244	N/A	INTRINSIC
Pfam:ABM	251	326	2.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141105

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Acap2	A	T	16: 31,108,171	Y509N	probably damaging	Het
Adcy9	T	A	16: 4,311,531	E497V	probably damaging	Het
Bcat2	T	G	7: 45,575,986	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,293,372	M952V	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cfap46	C	T	7: 139,601,265	V2607I	probably benign	Het
Clec18a	T	C	8: 111,081,638	I54V	possibly damaging	Het
Coil	A	G	11: 88,982,299	E455G	possibly damaging	Het
Copg1	A	T	6: 87,890,007	K75*	probably null	Het
Cyp2j12	G	A	4: 96,115,666	Q238*	probably null	Het
D17Wsu92e	C	T	17: 27,786,070		probably null	Het
Eif3i	T	C	4: 129,593,385	E229G	probably damaging	Het
Exoc2	T	A	13: 30,886,276	N411Y	probably benign	Het
Eya2	T	A	2: 165,754,484	M305K	probably damaging	Het
Faim	C	T	9: 98,992,634	T78M	probably damaging	Het
Fgg	T	A	3: 83,012,980	D355E	probably benign	Het
Foxn1	A	G	11: 78,358,785	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,386,015	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,345,570	R21G	probably damaging	Het
Inpp4b	G	A	8: 81,890,753	G220R	probably benign	Het
Irx6	A	G	8: 92,678,253	S250G	possibly damaging	Het
Lyst	T	C	13: 13,634,483	I246T	probably benign	Het
Mcm3	G	A	1: 20,812,672	Q353*	probably null	Het
Mfhas1	A	G	8: 35,591,053	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Nectin3	A	T	16: 46,463,842	S160T	possibly damaging	Het
Npc2	A	G	12: 84,760,884	S67P	probably damaging	Het
Olfr1036	G	A	2: 86,074,820	V27M	probably benign	Het
Olfr513	T	G	7: 108,754,907	F17C	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Phf21a	G	A	2: 92,359,199	S601N	probably benign	Het
Pold1	C	T	7: 44,535,051	V842I	probably benign	Het
Rabgap1	A	G	2: 37,543,234		probably null	Het
Setd1a	T	A	7: 127,797,424		probably benign	Het
Sgo2a	A	T	1: 57,999,962		probably null	Het
Sult2a8	T	A	7: 14,425,425	K90*	probably null	Het
Tlr2	T	C	3: 83,838,269	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,876,829	F153S	probably benign	Het
Tube1	G	T	10: 39,134,208	G10*	probably null	Het
Vmn2r10	T	C	5: 108,996,024	M687V	probably benign	Het
Zc3h8	G	A	2: 128,935,369	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089	D18E	probably damaging	Het

Other mutations in Necab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Necab1	APN	4	15052656	missense	probably damaging	1.00
IGL01314:Necab1	APN	4	15005079	missense	probably damaging	0.96
IGL01751:Necab1	APN	4	14978171	missense	probably damaging	1.00
IGL02098:Necab1	APN	4	14955892	utr 3 prime	probably benign
IGL02381:Necab1	APN	4	15148812	splice site	probably null
IGL03247:Necab1	APN	4	14960046	missense	probably benign
R0095:Necab1	UTSW	4	14960027	missense	possibly damaging	0.95
R0095:Necab1	UTSW	4	14960027	missense	possibly damaging	0.95
R0321:Necab1	UTSW	4	14960083	missense	probably damaging	0.99
R0698:Necab1	UTSW	4	15005041	missense	probably benign	0.26
R1125:Necab1	UTSW	4	15111257	missense	probably damaging	1.00
R1400:Necab1	UTSW	4	14975185	missense	possibly damaging	0.71
R1505:Necab1	UTSW	4	14960047	missense	probably benign	0.26
R1771:Necab1	UTSW	4	15111267	missense	probably damaging	1.00
R1776:Necab1	UTSW	4	15111267	missense	probably damaging	1.00
R2080:Necab1	UTSW	4	15140219	splice site	probably benign
R4705:Necab1	UTSW	4	15052628	missense	probably damaging	1.00
R4780:Necab1	UTSW	4	14989248	missense	probably benign	0.18
R4795:Necab1	UTSW	4	15111208	missense	possibly damaging	0.84
R4972:Necab1	UTSW	4	14978216	missense	probably damaging	1.00
R5009:Necab1	UTSW	4	14947503	unclassified	probably benign
R6102:Necab1	UTSW	4	14989211	missense	probably benign	0.05
R6968:Necab1	UTSW	4	14957852	missense	probably damaging	1.00
R7458:Necab1	UTSW	4	15111244	missense	possibly damaging	0.90
R8130:Necab1	UTSW	4	15005073	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTAAACAAGCAGTGCATCTCTG -3'
(R):5'- AGGCCATACACCAGTGCATGTTTC -3'

Sequencing Primer
(F):5'- GGTATCCACATGCCAAGTAAATG -3'
(R):5'- GTGTGTCATGCACAGCTAAC -3'

Posted On

2014-01-29