Mutagenetix > Incidental Mutation

Incidental Mutation 'R7458:Necab1'

578240

Institutional Source

Beutler Lab

Gene Symbol

Necab1

Ensembl Gene

ENSMUSG00000040536

Gene Name

N-terminal EF-hand calcium binding protein 1

Synonyms

NECAB1, STIP-1, Efcbp1, 1700003H21Rik

MMRRC Submission

045532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14952245-15149794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15111244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 61 (S61R)

Ref Sequence

ENSEMBL: ENSMUSP00000038165 (fasta)

Gene Model

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

AlphaFold

Q8BG18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041606
AA Change: S61R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: S61R

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

possibly damaging
Transcript: ENSMUST00000108273
AA Change: S61R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: S61R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,338,510 (GRCm39)	V501M	probably benign	Het
Abca13	T	C	11: 9,240,777 (GRCm39)	F880S	possibly damaging	Het
AI182371	T	A	2: 34,976,516 (GRCm39)	R206S	possibly damaging	Het
Akr1a1	A	T	4: 116,495,014 (GRCm39)	M286K	possibly damaging	Het
Aldh8a1	A	G	10: 21,271,492 (GRCm39)	E406G	possibly damaging	Het
Ambra1	T	A	2: 91,748,029 (GRCm39)	V1255D	probably benign	Het
Apol7e	C	T	15: 77,598,604 (GRCm39)	T23I	probably benign	Het
Armh4	T	C	14: 49,920,196 (GRCm39)	Y711C	probably damaging	Het
Boc	T	C	16: 44,307,119 (GRCm39)	E1034G		Het
Bricd5	T	C	17: 24,693,476 (GRCm39)	I39T	probably damaging	Het
Ccne1	T	C	7: 37,800,096 (GRCm39)	T163A	probably damaging	Het
Cct7	T	C	6: 85,436,978 (GRCm39)	V72A	probably benign	Het
Cdh3	A	G	8: 107,263,779 (GRCm39)	D199G	probably damaging	Het
Clip1	T	G	5: 123,778,609 (GRCm39)	E438A	probably damaging	Het
Col4a4	T	C	1: 82,476,669 (GRCm39)	I553M	unknown	Het
Csmd1	A	T	8: 16,003,738 (GRCm39)	N2605K	probably damaging	Het
Dnajc10	T	A	2: 80,155,094 (GRCm39)		probably null	Het
Fbn1	T	A	2: 125,161,036 (GRCm39)	D2168V	probably benign	Het
G2e3	T	A	12: 51,412,290 (GRCm39)	N443K	possibly damaging	Het
Gak	T	C	5: 108,730,940 (GRCm39)	D822G	probably benign	Het
Gm9493	A	G	19: 23,597,277 (GRCm39)	I58V	probably benign	Het
Gpr65	T	G	12: 98,242,324 (GRCm39)	S326A	probably damaging	Het
Irs2	T	C	8: 11,057,739 (GRCm39)	E231G	probably damaging	Het
Itga1	T	C	13: 115,122,802 (GRCm39)	D718G	probably benign	Het
Itih1	T	C	14: 30,665,223 (GRCm39)	M1V	probably null	Het
Lgr5	A	G	10: 115,293,660 (GRCm39)		probably null	Het
Lipn	A	G	19: 34,049,242 (GRCm39)	N136S	probably benign	Het
Lrrc37a	G	A	11: 103,388,258 (GRCm39)	T2389I	unknown	Het
Myo7b	G	A	18: 32,121,604 (GRCm39)	A767V	possibly damaging	Het
Or5m8	A	G	2: 85,822,994 (GRCm39)	T278A	probably damaging	Het
Phyhip	G	A	14: 70,699,260 (GRCm39)	R21H	probably damaging	Het
Pls1	G	A	9: 95,667,560 (GRCm39)	T116I	probably damaging	Het
Pnn	C	A	12: 59,119,200 (GRCm39)	S594R	unknown	Het
Psen1	T	A	12: 83,761,540 (GRCm39)	I114N	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Slc12a7	T	A	13: 73,933,188 (GRCm39)	V82E	probably damaging	Het
Slc25a44	A	G	3: 88,323,368 (GRCm39)	I246T	probably benign	Het
Slc2a13	T	A	15: 91,296,390 (GRCm39)	Y308F	probably benign	Het
Sntb2	C	A	8: 107,662,930 (GRCm39)	A166E	possibly damaging	Het
Tas2r135	T	A	6: 42,382,881 (GRCm39)	V140D	possibly damaging	Het
Tdrd6	T	C	17: 43,935,937 (GRCm39)	T1704A	probably benign	Het
Txndc12	A	G	4: 108,718,606 (GRCm39)	D159G	probably benign	Het
Ubash3a	T	C	17: 31,427,139 (GRCm39)	L16P	probably benign	Het
Usp4	T	C	9: 108,245,055 (GRCm39)	L331P	probably damaging	Het
Vmn2r108	T	C	17: 20,692,532 (GRCm39)	D108G	probably benign	Het
Vmn2r58	C	A	7: 41,487,123 (GRCm39)	A591S	probably benign	Het
Wdpcp	T	C	11: 21,698,919 (GRCm39)	I566T	probably damaging	Het
Zfp866	T	A	8: 70,218,202 (GRCm39)	K473*	probably null	Het

Other mutations in Necab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Necab1	APN	4	15,052,656 (GRCm39)	missense	probably damaging	1.00
IGL01314:Necab1	APN	4	15,005,079 (GRCm39)	missense	probably damaging	0.96
IGL01751:Necab1	APN	4	14,978,171 (GRCm39)	missense	probably damaging	1.00
IGL02098:Necab1	APN	4	14,955,892 (GRCm39)	utr 3 prime	probably benign
IGL02381:Necab1	APN	4	15,148,812 (GRCm39)	splice site	probably null
IGL03247:Necab1	APN	4	14,960,046 (GRCm39)	missense	probably benign
R0095:Necab1	UTSW	4	14,960,027 (GRCm39)	missense	possibly damaging	0.95
R0095:Necab1	UTSW	4	14,960,027 (GRCm39)	missense	possibly damaging	0.95
R0321:Necab1	UTSW	4	14,960,083 (GRCm39)	missense	probably damaging	0.99
R0698:Necab1	UTSW	4	15,005,041 (GRCm39)	missense	probably benign	0.26
R1125:Necab1	UTSW	4	15,111,257 (GRCm39)	missense	probably damaging	1.00
R1251:Necab1	UTSW	4	15,111,192 (GRCm39)	critical splice donor site	probably null
R1400:Necab1	UTSW	4	14,975,185 (GRCm39)	missense	possibly damaging	0.71
R1505:Necab1	UTSW	4	14,960,047 (GRCm39)	missense	probably benign	0.26
R1771:Necab1	UTSW	4	15,111,267 (GRCm39)	missense	probably damaging	1.00
R1776:Necab1	UTSW	4	15,111,267 (GRCm39)	missense	probably damaging	1.00
R2080:Necab1	UTSW	4	15,140,219 (GRCm39)	splice site	probably benign
R4705:Necab1	UTSW	4	15,052,628 (GRCm39)	missense	probably damaging	1.00
R4780:Necab1	UTSW	4	14,989,248 (GRCm39)	missense	probably benign	0.18
R4795:Necab1	UTSW	4	15,111,208 (GRCm39)	missense	possibly damaging	0.84
R4972:Necab1	UTSW	4	14,978,216 (GRCm39)	missense	probably damaging	1.00
R5009:Necab1	UTSW	4	14,947,503 (GRCm39)	unclassified	probably benign
R6102:Necab1	UTSW	4	14,989,211 (GRCm39)	missense	probably benign	0.05
R6968:Necab1	UTSW	4	14,957,852 (GRCm39)	missense	probably damaging	1.00
R8130:Necab1	UTSW	4	15,005,073 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTAGTTTCCAGGTAGCAG -3'
(R):5'- ATTGCAAAGGTTTCCTTCTTGC -3'

Sequencing Primer
(F):5'- GTTTCCAGGTAGCAGAAATTTTCAG -3'
(R):5'- CAAGCACAGATGCTAGGA -3'

Posted On

2019-10-07