Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00429:Necab1'

6709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Necab1

Ensembl Gene

ENSMUSG00000040536

Gene Name

N-terminal EF-hand calcium binding protein 1

Synonyms

NECAB1, STIP-1, Efcbp1, 1700003H21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

14952245-15149794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15052656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 107 (N107K)

Ref Sequence

ENSEMBL: ENSMUSP00000103908 (fasta)

Gene Model

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

AlphaFold

Q8BG18

Predicted Effect

probably damaging
Transcript: ENSMUST00000041606
AA Change: N107K

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

SMART Domains

Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: N107K

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 damaging
Transcript: ENSMUST00000108273
AA Change: N107K

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

SMART Domains

Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: N107K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,729,673 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,040,983 (GRCm39)	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255 (GRCm39)		probably null	Het
Abca15	T	A	7: 119,996,277 (GRCm39)	I1401N	probably damaging	Het
Adam3	A	C	8: 25,184,294 (GRCm39)	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,555,192 (GRCm39)	S458G	probably damaging	Het
Asxl3	C	T	18: 22,658,280 (GRCm39)	P2097S	probably benign	Het
AW551984	T	C	9: 39,504,145 (GRCm39)	D607G	probably benign	Het
Ccdc158	C	A	5: 92,805,740 (GRCm39)	M338I	probably benign	Het
Cdh23	A	G	10: 60,256,920 (GRCm39)	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,448 (GRCm39)	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,432,171 (GRCm39)		probably benign	Het
Dus4l	A	G	12: 31,691,668 (GRCm39)	V180A	probably benign	Het
Dysf	A	T	6: 84,166,826 (GRCm39)	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,340 (GRCm39)	L141Q	probably damaging	Het
Fhod3	A	G	18: 25,127,597 (GRCm39)	E313G	probably damaging	Het
Gm4884	A	G	7: 40,693,809 (GRCm39)	T593A	probably benign	Het
H2bc14	T	C	13: 21,906,310 (GRCm39)	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,537,812 (GRCm39)	E526K	possibly damaging	Het
Lama4	A	T	10: 38,887,022 (GRCm39)	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,690,557 (GRCm39)	Q48P	probably damaging	Het
Magi3	T	A	3: 103,922,294 (GRCm39)	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,714,109 (GRCm39)	F237L	probably damaging	Het
Mst1r	A	T	9: 107,790,449 (GRCm39)		probably benign	Het
Mtcl2	A	C	2: 156,872,784 (GRCm39)	F909C	probably damaging	Het
Myh2	C	T	11: 67,071,616 (GRCm39)	Q478*	probably null	Het
Mylip	C	A	13: 45,562,043 (GRCm39)	P282T	probably benign	Het
Mymk	T	C	2: 26,952,799 (GRCm39)	Y103C	probably damaging	Het
Pclo	T	C	5: 14,730,753 (GRCm39)		probably benign	Het
Phgdh	T	C	3: 98,235,631 (GRCm39)	K129E	probably damaging	Het
Plxna4	T	C	6: 32,139,026 (GRCm39)	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205 (GRCm39)		probably benign	Het
Ppfibp2	A	G	7: 107,296,801 (GRCm39)	T172A	probably benign	Het
Prkca	T	C	11: 108,234,334 (GRCm39)	T54A	probably benign	Het
Prlr	A	G	15: 10,328,410 (GRCm39)	D295G	probably benign	Het
Rdh12	A	G	12: 79,258,176 (GRCm39)	I68V	probably benign	Het
Slc14a2	A	G	18: 78,193,653 (GRCm39)	F850L	possibly damaging	Het
Smad2	A	T	18: 76,431,566 (GRCm39)	S185C	possibly damaging	Het
Trav13n-4	T	A	14: 53,601,288 (GRCm39)	L19Q	probably benign	Het
Ush2a	T	A	1: 188,132,311 (GRCm39)	C844*	probably null	Het
Vwce	T	A	19: 10,641,875 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,518,709 (GRCm39)		probably benign	Het
Zfp143	T	C	7: 109,690,979 (GRCm39)	I510T	probably damaging	Het
Zfp930	G	T	8: 69,680,634 (GRCm39)	K90N	probably damaging	Het

Other mutations in Necab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7458:Necab1	UTSW	4	15,111,244 (GRCm39)	missense	possibly damaging	0.90
R8130:Necab1	UTSW	4	15,005,073 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20