Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Necab1'

229405

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

040085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14952245-15149794 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 15140219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103908 (fasta)

Gene Model

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

AlphaFold

Q8BG18

Predicted Effect

probably benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148	A123V	probably benign	Het
Car6	T	C	4: 150,198,141	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419		probably benign	Het
Gm1527	T	A	3: 28,926,661	C637S	probably benign	Het
Hist1h1a	A	G	13: 23,763,949	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941		probably null	Het
Naip5	A	G	13: 100,221,533	L1065P	probably damaging	Het
Nemf	A	G	12: 69,353,786		probably benign	Het
Nfil3	A	T	13: 52,968,033	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013		probably benign	Het
Ppm1f	T	A	16: 16,923,880	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667	D480A	probably damaging	Het

Other mutations in Necab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Necab1	APN	4	15,052,656 (GRCm38)	missense	probably damaging	1.00
IGL01314:Necab1	APN	4	15,005,079 (GRCm38)	missense	probably damaging	0.96
IGL01751:Necab1	APN	4	14,978,171 (GRCm38)	missense	probably damaging	1.00
IGL02098:Necab1	APN	4	14,955,892 (GRCm38)	utr 3 prime	probably benign
IGL02381:Necab1	APN	4	15,148,812 (GRCm38)	splice site	probably null
IGL03247:Necab1	APN	4	14,960,046 (GRCm38)	missense	probably benign
R0095:Necab1	UTSW	4	14,960,027 (GRCm38)	missense	possibly damaging	0.95
R0095:Necab1	UTSW	4	14,960,027 (GRCm38)	missense	possibly damaging	0.95
R0321:Necab1	UTSW	4	14,960,083 (GRCm38)	missense	probably damaging	0.99
R0698:Necab1	UTSW	4	15,005,041 (GRCm38)	missense	probably benign	0.26
R1125:Necab1	UTSW	4	15,111,257 (GRCm38)	missense	probably damaging	1.00
R1251:Necab1	UTSW	4	15,111,192 (GRCm38)	critical splice donor site	probably null
R1400:Necab1	UTSW	4	14,975,185 (GRCm38)	missense	possibly damaging	0.71
R1505:Necab1	UTSW	4	14,960,047 (GRCm38)	missense	probably benign	0.26
R1771:Necab1	UTSW	4	15,111,267 (GRCm38)	missense	probably damaging	1.00
R1776:Necab1	UTSW	4	15,111,267 (GRCm38)	missense	probably damaging	1.00
R4705:Necab1	UTSW	4	15,052,628 (GRCm38)	missense	probably damaging	1.00
R4780:Necab1	UTSW	4	14,989,248 (GRCm38)	missense	probably benign	0.18
R4795:Necab1	UTSW	4	15,111,208 (GRCm38)	missense	possibly damaging	0.84
R4972:Necab1	UTSW	4	14,978,216 (GRCm38)	missense	probably damaging	1.00
R5009:Necab1	UTSW	4	14,947,503 (GRCm38)	unclassified	probably benign
R6102:Necab1	UTSW	4	14,989,211 (GRCm38)	missense	probably benign	0.05
R6968:Necab1	UTSW	4	14,957,852 (GRCm38)	missense	probably damaging	1.00
R7458:Necab1	UTSW	4	15,111,244 (GRCm38)	missense	possibly damaging	0.90
R8130:Necab1	UTSW	4	15,005,073 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATTCATCTGCCAACTTCTCATG -3'
(R):5'- TGATGGGTAAATACAGCATTCATTG -3'

Sequencing Primer
(F):5'- GCCAACTTCTCATGAATATCTGTAG -3'
(R):5'- GCACATATGCTAGGCAAG -3'

Posted On

2014-09-17