Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Necab1'

384503

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

042567-MU

Accession Numbers

Essential gene?

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

Stock #

R4972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14952245-15149794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14978216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 211 (D211V)

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: D211V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: D211V

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: D211V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: D211V

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

Meta Mutation Damage Score

0.1397

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404 (GRCm38)	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773 (GRCm38)		noncoding transcript	Het
Actl11	A	G	9: 107,929,956 (GRCm38)	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039 (GRCm38)	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945 (GRCm38)	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862 (GRCm38)	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399 (GRCm38)		probably benign	Het
Apba1	T	A	19: 23,912,536 (GRCm38)	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272 (GRCm38)	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178 (GRCm38)	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224 (GRCm38)	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003 (GRCm38)	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552 (GRCm38)	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684 (GRCm38)	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448 (GRCm38)	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117 (GRCm38)	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703 (GRCm38)	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770 (GRCm38)	F389L	probably damaging	Het
Dgkz	C	T	2: 91,945,702 (GRCm38)	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290 (GRCm38)	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338 (GRCm38)	T106A	probably benign	Het
F13b	A	G	1: 139,510,923 (GRCm38)	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650 (GRCm38)	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012 (GRCm38)	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329 (GRCm38)	E70*	probably null	Het
Gpr171	A	T	3: 59,097,965 (GRCm38)	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484 (GRCm38)	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679 (GRCm38)	M51K	probably damaging	Het
Gvin-ps3	T	C	7: 106,083,314 (GRCm38)		noncoding transcript	Het
Hacd3	A	T	9: 64,990,436 (GRCm38)	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064 (GRCm38)	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976 (GRCm38)		probably benign	Het
Kif6	A	G	17: 49,707,619 (GRCm38)	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067 (GRCm38)	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002 (GRCm38)	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256 (GRCm38)		probably benign	Het
Mvp	T	C	7: 126,989,798 (GRCm38)	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309 (GRCm38)	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193 (GRCm38)	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246 (GRCm38)	R313H	probably damaging	Het
Nefl	G	T	14: 68,086,763 (GRCm38)		probably benign	Het
Nfx1	T	A	4: 40,976,375 (GRCm38)	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539 (GRCm38)	C797F	probably damaging	Het
Or4k36	T	A	2: 111,315,818 (GRCm38)	V113E	probably damaging	Het
Or5p5	A	G	7: 107,814,746 (GRCm38)	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264 (GRCm38)	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893 (GRCm38)		probably null	Het
Polr3b	T	A	10: 84,638,124 (GRCm38)	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108 (GRCm38)	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170 (GRCm38)	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345 (GRCm38)		probably benign	Het
Prph2	G	T	17: 46,910,807 (GRCm38)	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427 (GRCm38)	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275 (GRCm38)	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693 (GRCm38)	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389 (GRCm38)	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416 (GRCm38)	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068 (GRCm38)	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928 (GRCm38)	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723 (GRCm38)	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425 (GRCm38)	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778 (GRCm38)	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542 (GRCm38)	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338 (GRCm38)		probably null	Het
Thsd7b	C	A	1: 130,188,572 (GRCm38)	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668 (GRCm38)	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993 (GRCm38)	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058 (GRCm38)	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961 (GRCm38)	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350 (GRCm38)		probably null	Het
Zscan20	G	A	4: 128,592,359 (GRCm38)	P183S	probably benign	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
R2080:Necab1	UTSW	4	15,140,219 (GRCm38)	splice site	probably benign
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
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'- TCCACAGAGTCAGACATTGAAC -3'
(R):5'- AAGCAGTGATGCAGCGATTTC -3'

Sequencing Primer
(F):5'- GAACACTATTCTATCCATGGGGAAGC -3'
(R):5'- CTGAGAGTTGGGTACTTAGAAATCAC -3'

Posted On

2016-04-27