Mutagenetix > Incidental Mutation

Incidental Mutation 'R1505:Necab1'

169104

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

040868-MU

Accession Numbers

Essential gene?

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

Stock #

R1505 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14952245-15149794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14960047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 300 (M300K)

Ref Sequence

ENSEMBL: ENSMUSP00000103908 (fasta)

Gene Model

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

AlphaFold

Q8BG18

Predicted Effect

probably benign
Transcript: ENSMUST00000041606
AA Change: M300K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: M300K

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
AA Change: M300K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: M300K

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: 98.9%
3x: 97.8%
10x: 94.5%
20x: 86.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,099,431 (GRCm39)	R444W	probably damaging	Het
Adnp	A	G	2: 168,025,661 (GRCm39)	S545P	possibly damaging	Het
Ankrd17	T	C	5: 90,447,885 (GRCm39)	R219G	possibly damaging	Het
Ap2m1	C	G	16: 20,361,447 (GRCm39)	P372A	probably benign	Het
Calml3	T	A	13: 3,854,071 (GRCm39)	T45S	probably benign	Het
Casp8	A	G	1: 58,868,081 (GRCm39)	E174G	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap221	A	C	1: 119,881,358 (GRCm39)	L368R	probably benign	Het
Chd9	A	G	8: 91,733,123 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,455,295 (GRCm39)	I2035N	probably damaging	Het
Cyp2c67	T	C	19: 39,637,408 (GRCm39)	R23G	probably benign	Het
Dnah10	A	C	5: 124,831,303 (GRCm39)	H777P	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam162b	G	A	10: 51,463,298 (GRCm39)	A123V	probably damaging	Het
Golgb1	T	A	16: 36,740,005 (GRCm39)	N2781K	possibly damaging	Het
Hs2st1	C	A	3: 144,140,322 (GRCm39)	R333L	probably benign	Het
Kmt2e	A	G	5: 23,705,533 (GRCm39)	H1319R	probably null	Het
Ntrk3	T	A	7: 78,110,272 (GRCm39)	I321F	probably damaging	Het
Or5p60	A	G	7: 107,724,200 (GRCm39)	V90A	probably benign	Het
Or7e169	A	T	9: 19,757,084 (GRCm39)	M277K	probably benign	Het
Or8g52	A	G	9: 39,630,774 (GRCm39)	N84D	probably damaging	Het
Or8k41	A	T	2: 86,313,557 (GRCm39)	H176Q	possibly damaging	Het
Osbpl6	T	C	2: 76,409,586 (GRCm39)	S483P	probably damaging	Het
Pcdhb17	A	C	18: 37,619,875 (GRCm39)	N555T	probably damaging	Het
Pdgfc	G	A	3: 81,116,543 (GRCm39)	R299H	possibly damaging	Het
Ptpn7	A	T	1: 135,062,302 (GRCm39)	T83S	probably benign	Het
Rapgef5	T	C	12: 117,652,354 (GRCm39)	V79A	possibly damaging	Het
Rexo5	T	A	7: 119,398,826 (GRCm39)	C54*	probably null	Het
Riok3	A	G	18: 12,285,935 (GRCm39)	K418R	probably benign	Het
Robo4	G	A	9: 37,314,523 (GRCm39)	G170D	probably damaging	Het
Rpl8	A	G	15: 76,788,610 (GRCm39)	D33G	possibly damaging	Het
Rspo2	T	C	15: 42,939,239 (GRCm39)	T184A	probably damaging	Het
Ryr2	A	T	13: 11,569,478 (GRCm39)	M4942K	possibly damaging	Het
Sel1l	T	C	12: 91,780,736 (GRCm39)	Y585C	probably damaging	Het
Slc25a11	G	T	11: 70,537,650 (GRCm39)	D13E	probably benign	Het
Slc5a6	G	T	5: 31,194,455 (GRCm39)	H584N	probably benign	Het
Snrpf	A	G	10: 93,419,381 (GRCm39)	V69A	possibly damaging	Het
Sorbs3	T	A	14: 70,428,251 (GRCm39)	K475*	probably null	Het
Speg	G	A	1: 75,352,186 (GRCm39)	V35I	probably benign	Het
Tlk2	T	G	11: 105,151,121 (GRCm39)	V468G	probably damaging	Het
Trim6	T	A	7: 103,881,771 (GRCm39)	W341R	probably damaging	Het
Ttll5	T	A	12: 85,926,184 (GRCm39)	I326N	probably damaging	Het
Vipas39	T	C	12: 87,292,934 (GRCm39)	Y318C	probably damaging	Het
Vmn1r185	T	A	7: 26,310,903 (GRCm39)	I201F	probably damaging	Het
Vwce	A	G	19: 10,641,608 (GRCm39)	H778R	probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGATCGTCCTGGGCAACTGAATGG -3'
(R):5'- GAAGTCTTCCTTGGTTGGTCTCCAC -3'

Sequencing Primer
(F):5'- gggatgtaacagtgatggagtg -3'
(R):5'- TCCACATTCTTCATTGAGGCAAAC -3'

Posted On

2014-04-13