Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Efcab3'

248703

Institutional Source

Beutler Lab

Gene Symbol

Efcab3

Ensembl Gene

ENSMUSG00000020690

Gene Name

EF-hand calcium binding domain 3

Synonyms

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2401 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105063592-105117537 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 105072318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000136876] [ENSMUST00000136876] [ENSMUST00000137086] [ENSMUST00000212287] [ENSMUST00000212287]

AlphaFold

Q80X60

Predicted Effect

probably null
Transcript: ENSMUST00000136876

SMART Domains

Protein: ENSMUSP00000120875
Gene: ENSMUSG00000020690

Domain	Start	End	E-Value	Type
SCOP:d1exra_	2	127	2e-3	SMART
Blast:EFh	102	130	8e-12	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000136876

SMART Domains

Protein: ENSMUSP00000120875
Gene: ENSMUSG00000020690

Domain	Start	End	E-Value	Type
SCOP:d1exra_	2	127	2e-3	SMART
Blast:EFh	102	130	8e-12	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000137086

SMART Domains

Protein: ENSMUSP00000114580
Gene: ENSMUSG00000020690

Domain	Start	End	E-Value	Type
internal_repeat_1	4	78	5.46e-7	PROSPERO
EFh	102	130	2.18e1	SMART
EFh	155	183	4.93e0	SMART
Blast:EFh	257	285	3e-7	BLAST
EFh	293	321	1.03e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000212287

Predicted Effect

probably null
Transcript: ENSMUST00000212287

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,283,089	L1158P	probably damaging	Het
Acnat1	A	T	4: 49,451,077	N11K	possibly damaging	Het
Ammecr1l	T	A	18: 31,776,003	I217N	possibly damaging	Het
Ankrd11	G	A	8: 122,908,734	R54*	probably null	Het
Ccdc178	C	T	18: 22,131,414		probably null	Het
Ccdc36	G	T	9: 108,413,006	T133N	possibly damaging	Het
Clcn7	T	C	17: 25,153,140	S425P	probably benign	Het
Cnmd	A	G	14: 79,656,605	V114A	probably damaging	Het
Col13a1	T	C	10: 61,851,162	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyp3a25	T	C	5: 145,986,968		probably null	Het
Dmrta1	A	T	4: 89,691,616	D271V	probably benign	Het
Exo5	T	C	4: 120,921,997	I224V	probably damaging	Het
Fam162b	C	A	10: 51,587,218	A118S	probably damaging	Het
Glb1	A	G	9: 114,454,257	T406A	possibly damaging	Het
Grk3	T	C	5: 112,914,983	N666S	probably benign	Het
Hars2	T	C	18: 36,789,523	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,567,603		probably benign	Het
Inpp4b	A	T	8: 81,997,339	D500V	probably benign	Het
Itgb4	A	G	11: 116,006,563	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,340,017	T38S	possibly damaging	Het
Kif16b	C	T	2: 142,756,122	V527I	probably benign	Het
Kmt2b	A	G	7: 30,576,708	Y1789H	probably damaging	Het
Lpl	A	C	8: 68,901,243	D412A	possibly damaging	Het
Lrrc27	T	G	7: 139,223,613	L151R	probably damaging	Het
Muc3	T	C	5: 137,154,041		probably benign	Het
Nup205	T	A	6: 35,208,134	Y829*	probably null	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,021,752	Y447C	probably damaging	Het
Olfr1308	T	C	2: 111,960,149	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,335,169	V381A	probably benign	Het
Prmt2	C	T	10: 76,225,415	W79*	probably null	Het
Skiv2l	T	C	17: 34,840,385	M1029V	probably benign	Het
Stil	A	G	4: 115,016,286	R369G	probably null	Het
Ttc41	T	C	10: 86,724,374	I387T	probably benign	Het
Tubgcp6	A	G	15: 89,102,984	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,769,445	H1206R	probably damaging	Het

Other mutations in Efcab3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4812001:Efcab3	UTSW	11	105099979	missense	probably null	0.00
R0388:Efcab3	UTSW	11	105109401	missense	possibly damaging	0.61
R1440:Efcab3	UTSW	11	105108755	splice site	probably benign
R1540:Efcab3	UTSW	11	105108900	missense	probably benign	0.07
R2029:Efcab3	UTSW	11	105100025	missense	probably damaging	0.99
R3901:Efcab3	UTSW	11	105083887	missense	possibly damaging	0.68
R4244:Efcab3	UTSW	11	105111803	missense	probably damaging	1.00
R4895:Efcab3	UTSW	11	105117401	unclassified	probably benign
R5316:Efcab3	UTSW	11	105076460	missense	possibly damaging	0.80
R6378:Efcab3	UTSW	11	105108794	missense	possibly damaging	0.83
R6494:Efcab3	UTSW	11	105100019	missense	possibly damaging	0.93
R6573:Efcab3	UTSW	11	105080635	missense	possibly damaging	0.91
R6723:Efcab3	UTSW	11	105117080	missense	possibly damaging	0.95
R7189:Efcab3	UTSW	11	105095864	missense	probably benign
R7483:Efcab3	UTSW	11	105109286	missense	probably benign	0.39
R7612:Efcab3	UTSW	11	105108821	missense	possibly damaging	0.80
R7719:Efcab3	UTSW	11	105111848	missense	probably benign	0.14
R7735:Efcab3	UTSW	11	105071639	missense	probably benign
R7895:Efcab3	UTSW	11	105117324	missense	probably benign	0.29
R8061:Efcab3	UTSW	11	105106449	missense	probably benign	0.00
R8116:Efcab3	UTSW	11	105111851	missense	possibly damaging	0.65
X0026:Efcab3	UTSW	11	105117111	missense	probably benign	0.03
Z1176:Efcab3	UTSW	11	105100046	missense	probably damaging	1.00
Z1176:Efcab3	UTSW	11	105108772	nonsense	probably null

Predicted Primers

Posted On

2014-11-11