Mutagenetix > Incidental Mutation

Incidental Mutation 'R1590:Efcab14'

177791

Institutional Source

Beutler Lab

Gene Symbol

Efcab14

Ensembl Gene

ENSMUSG00000034210

Gene Name

EF-hand calcium binding domain 14

Synonyms

4732418C07Rik

MMRRC Submission

039627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115594941-115634524 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 115613746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074425] [ENSMUST00000106522] [ENSMUST00000106524] [ENSMUST00000106525]

AlphaFold

Q8BGQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000074425

SMART Domains

Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1fi6a_	425	498	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106522

SMART Domains

Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
low complexity region	433	440	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106524

SMART Domains

Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1hqva_	360	418	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106525

SMART Domains

Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1hqva_	424	482	3e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136593

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,322,370 (GRCm39)	S95P	probably damaging	Het
Ankmy1	T	C	1: 92,816,397 (GRCm39)	Y239C	probably damaging	Het
Atp12a	T	C	14: 56,617,512 (GRCm39)	S601P	probably damaging	Het
Atp1b3	T	C	9: 96,225,402 (GRCm39)	T89A	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Brme1	A	T	8: 84,893,715 (GRCm39)	Q294L	probably benign	Het
Btnl2	A	T	17: 34,580,114 (GRCm39)	I216F	possibly damaging	Het
Cabs1	A	T	5: 88,127,490 (GRCm39)	H47L	probably damaging	Het
Ccdc68	T	A	18: 70,073,251 (GRCm39)	D66E	probably benign	Het
Cdc42ep4	T	C	11: 113,619,392 (GRCm39)	D333G	possibly damaging	Het
Ckmt1	G	A	2: 121,194,003 (GRCm39)	D389N	possibly damaging	Het
Dact1	G	T	12: 71,364,349 (GRCm39)	V340F	probably benign	Het
Dnah2	T	C	11: 69,412,024 (GRCm39)	T246A	probably benign	Het
Dnah2	A	G	11: 69,313,580 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Eprs1	A	G	1: 185,133,707 (GRCm39)	T795A	probably damaging	Het
Esp36	T	A	17: 38,728,202 (GRCm39)	E26D	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,678 (GRCm39)	T271A	probably benign	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gimap7	G	A	6: 48,700,953 (GRCm39)	V180M	probably damaging	Het
Gtf3c1	T	C	7: 125,275,833 (GRCm39)	H531R	possibly damaging	Het
Herc1	T	A	9: 66,399,235 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,140,203 (GRCm39)	Y1061C	probably benign	Het
Ipo11	T	C	13: 107,023,225 (GRCm39)	Y420C	probably damaging	Het
Ipo8	T	C	6: 148,712,163 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,606,072 (GRCm39)	M243K	probably damaging	Het
Lrp2	A	G	2: 69,297,107 (GRCm39)		probably null	Het
Mag	T	C	7: 30,601,277 (GRCm39)	E439G	probably damaging	Het
Mcm3ap	T	A	10: 76,332,375 (GRCm39)	F1231I	probably benign	Het
Mcmdc2	C	T	1: 9,986,780 (GRCm39)	Q204*	probably null	Het
Mpl	A	C	4: 118,301,221 (GRCm39)	L548R	probably damaging	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Myo18b	G	A	5: 113,023,132 (GRCm39)	Q87*	probably null	Het
Nfat5	A	G	8: 108,020,522 (GRCm39)	Y22C	probably damaging	Het
Nnt	T	A	13: 119,523,197 (GRCm39)	I232L	possibly damaging	Het
Or2a52	A	G	6: 43,144,846 (GRCm39)	N285D	probably damaging	Het
Or8g17	T	C	9: 38,930,253 (GRCm39)	N195D	probably benign	Het
Or9s13	G	A	1: 92,548,467 (GRCm39)	V280M	possibly damaging	Het
Parp2	C	T	14: 51,048,001 (GRCm39)	P76S	probably benign	Het
Pick1	C	T	15: 79,129,501 (GRCm39)	H169Y	probably benign	Het
Prtg	T	A	9: 72,750,089 (GRCm39)	F164L	probably benign	Het
Pygb	A	G	2: 150,659,583 (GRCm39)	D422G	possibly damaging	Het
Samd9l	C	A	6: 3,375,761 (GRCm39)	C500F	probably benign	Het
Sbno1	A	C	5: 124,522,567 (GRCm39)	N1083K	possibly damaging	Het
Septin7	C	T	9: 25,188,900 (GRCm39)	S77F	probably damaging	Het
Slc25a44	A	G	3: 88,323,314 (GRCm39)	V264A	possibly damaging	Het
Slco1a8	C	T	6: 141,926,598 (GRCm39)	S576N	probably benign	Het
Slf2	G	T	19: 44,930,512 (GRCm39)	E530*	probably null	Het
Svs5	A	G	2: 164,079,578 (GRCm39)	S110P	possibly damaging	Het
Tmbim7	G	T	5: 3,715,338 (GRCm39)		probably null	Het
Tpgs2	T	C	18: 25,273,630 (GRCm39)	D177G	probably damaging	Het
Uba1y	T	A	Y: 826,893 (GRCm39)	F516L	probably damaging	Het
Ulk1	A	G	5: 110,943,632 (GRCm39)	V211A	probably damaging	Het
Vmn1r237	T	A	17: 21,534,301 (GRCm39)	I8N	probably damaging	Het
Vmn2r103	G	T	17: 20,014,496 (GRCm39)	M429I	probably benign	Het
Vmn2r112	T	C	17: 22,833,989 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,227,349 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het

Other mutations in Efcab14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02232:Efcab14	APN	4	115,617,261 (GRCm39)	splice site	probably benign
IGL02300:Efcab14	APN	4	115,616,093 (GRCm39)	critical splice donor site	probably null
IGL02598:Efcab14	APN	4	115,597,631 (GRCm39)	nonsense	probably null
IGL02680:Efcab14	APN	4	115,597,615 (GRCm39)	missense	probably damaging	1.00
IGL03066:Efcab14	APN	4	115,596,001 (GRCm39)	missense	probably benign	0.12
R0123:Efcab14	UTSW	4	115,597,728 (GRCm39)	missense	probably damaging	1.00
R0134:Efcab14	UTSW	4	115,597,728 (GRCm39)	missense	probably damaging	1.00
R1275:Efcab14	UTSW	4	115,613,670 (GRCm39)	missense	probably damaging	1.00
R1481:Efcab14	UTSW	4	115,613,714 (GRCm39)	missense	probably benign	0.07
R1694:Efcab14	UTSW	4	115,603,736 (GRCm39)	missense	possibly damaging	0.82
R1768:Efcab14	UTSW	4	115,610,116 (GRCm39)	critical splice acceptor site	probably null
R1769:Efcab14	UTSW	4	115,610,188 (GRCm39)	missense	probably damaging	1.00
R3887:Efcab14	UTSW	4	115,595,857 (GRCm39)	start codon destroyed	probably null	1.00
R4158:Efcab14	UTSW	4	115,597,594 (GRCm39)	missense	probably damaging	0.99
R4160:Efcab14	UTSW	4	115,597,594 (GRCm39)	missense	probably damaging	0.99
R5584:Efcab14	UTSW	4	115,621,794 (GRCm39)	missense	possibly damaging	0.49
R5690:Efcab14	UTSW	4	115,617,244 (GRCm39)	missense	possibly damaging	0.71
R5796:Efcab14	UTSW	4	115,603,780 (GRCm39)	missense	probably damaging	0.99
R5945:Efcab14	UTSW	4	115,613,664 (GRCm39)	missense	probably damaging	1.00
R6445:Efcab14	UTSW	4	115,613,668 (GRCm39)	missense	possibly damaging	0.74
R6761:Efcab14	UTSW	4	115,596,024 (GRCm39)	missense	probably damaging	1.00
R7564:Efcab14	UTSW	4	115,617,159 (GRCm39)	missense	probably benign	0.33
R8030:Efcab14	UTSW	4	115,623,599 (GRCm39)	missense	probably benign	0.07
R8747:Efcab14	UTSW	4	115,603,793 (GRCm39)	missense	probably damaging	0.99
R9467:Efcab14	UTSW	4	115,610,208 (GRCm39)	missense	probably damaging	1.00
R9706:Efcab14	UTSW	4	115,625,901 (GRCm39)	missense	possibly damaging	0.90
R9760:Efcab14	UTSW	4	115,616,072 (GRCm39)	missense	probably benign	0.01
X0018:Efcab14	UTSW	4	115,623,683 (GRCm39)	missense	probably damaging	0.99
Z1177:Efcab14	UTSW	4	115,595,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAAAGGGCTGATGTTCCTATATTGTCTCTA -3'
(R):5'- CCACAGAAGTACaacaagtcatcctcaaa -3'

Sequencing Primer
(F):5'- CTCTATGCAGAGTGTGGCTTCC -3'
(R):5'- AGAGTAGTGTCTGCTCAGCT -3'

Posted On

2014-04-24