Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Efcab3'

619723

Institutional Source

Beutler Lab

Gene Symbol

Efcab3

Ensembl Gene

ENSMUSG00000020690

Gene Name

EF-hand calcium binding domain 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105063592-105117537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105106449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 155 (D155V)

Ref Sequence

ENSEMBL: ENSMUSP00000021029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021029] [ENSMUST00000137086] [ENSMUST00000212287]

AlphaFold

Q80X60

Predicted Effect

probably benign
Transcript: ENSMUST00000021029
AA Change: D155V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021029
Gene: ENSMUSG00000020690
AA Change: D155V

Domain	Start	End	E-Value	Type
Pfam:EF-hand_8	61	113	1e-10	PFAM
low complexity region	394	417	N/A	INTRINSIC
low complexity region	420	428	N/A	INTRINSIC

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000212287
AA Change: D5531V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	G	9: 8,042,671	W37R	probably damaging	Het
Acads	G	A	5: 115,117,651	R42C	probably benign	Het
Agrn	G	A	4: 156,178,954	R338C	probably damaging	Het
Anapc1	T	C	2: 128,648,488	E1008G	probably damaging	Het
Art5	A	T	7: 102,098,249	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,740,543	C369Y	probably damaging	Het
Asb3	A	G	11: 30,998,447	N41S	probably damaging	Het
Astn1	G	A	1: 158,504,350		probably null	Het
Asxl3	T	A	18: 22,524,243	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,946,220		probably benign	Het
Chrm1	T	C	19: 8,679,154	Y408H	possibly damaging	Het
Chst2	T	C	9: 95,405,171	H374R	probably damaging	Het
Cnot1	A	G	8: 95,765,027	F390L	possibly damaging	Het
Comt	T	C	16: 18,411,290	Y100C	probably benign	Het
Dclk2	T	C	3: 86,813,674		probably benign	Het
Dicer1	G	A	12: 104,702,818	Q1202*	probably null	Het
Disp1	C	T	1: 183,087,587	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,617,170	D62G	possibly damaging	Het
Dock1	C	T	7: 134,772,323	T566I	probably benign	Het
Dopey1	T	G	9: 86,521,193	M18R	possibly damaging	Het
Dopey2	T	C	16: 93,749,996	L296P	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Ehmt2	T	C	17: 34,905,927	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,047,658	W301*	probably null	Het
Fam49a	G	T	12: 12,362,027	A150S	possibly damaging	Het
Fpgt	A	G	3: 155,087,266	S375P	probably benign	Het
Gas2l1	G	A	11: 5,061,785	S348F	possibly damaging	Het
Gen1	A	T	12: 11,261,076		probably benign	Het
Gm16486	A	G	8: 70,708,575	E139G	probably benign	Het
Ice1	A	T	13: 70,603,732	C1412S	probably damaging	Het
Klhl2	A	C	8: 64,758,223	L264V	probably damaging	Het
Lars2	A	G	9: 123,459,497	T803A	probably benign	Het
Ldb2	T	A	5: 44,480,270	K232M	probably damaging	Het
Lix1	G	A	17: 17,443,676	R92Q	probably damaging	Het
Meig1	C	T	2: 3,409,203	V87I	not run	Het
Mitf	A	C	6: 97,993,298	S176R	probably damaging	Het
Myh7	A	G	14: 54,990,941	V236A	probably benign	Het
Myo5a	T	A	9: 75,122,957	Y119*	probably null	Het
Ncapg2	A	G	12: 116,426,577	N382S	probably benign	Het
Neu2	C	T	1: 87,596,911	P206L	probably damaging	Het
Olfr753-ps1	A	G	17: 37,169,901	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,702,724	R454Q	probably benign	Het
Panx1	A	G	9: 15,045,001	S13P	possibly damaging	Het
Pde2a	A	G	7: 101,503,972	D413G	probably benign	Het
Plcb1	A	T	2: 135,346,396	Y803F	probably benign	Het
Prrc2a	T	C	17: 35,161,186		probably benign	Het
Pth2r	T	A	1: 65,343,501	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,691,600		probably null	Het
Rapgef3	T	C	15: 97,761,520	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492	N907S	probably damaging	Het
Scn7a	T	A	2: 66,692,594	N922I	probably damaging	Het
Shprh	T	C	10: 11,212,333	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,111,045	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,828,911	I63M	probably damaging	Het
Smg1	A	T	7: 118,152,387	V2817E	unknown	Het
Sprr3	T	C	3: 92,456,877	E220G	probably damaging	Het
Tcf21	T	C	10: 22,819,863	E14G	probably benign	Het
Tenm4	A	G	7: 96,852,456	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,492,103	G551V	probably damaging	Het
Tpk1	A	G	6: 43,346,844	S224P	probably damaging	Het
Trib1	T	C	15: 59,651,555	I146T	probably damaging	Het
Ttc32	T	A	12: 9,034,953	Y58N	probably damaging	Het
Vcan	T	A	13: 89,657,290	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,395,283	Y85*	probably null	Het
Vps39	T	C	2: 120,344,211	I97V	probably benign	Het
Zan	T	A	5: 137,436,631	I2167F	unknown	Het
Zfp37	A	T	4: 62,191,428	Y507*	probably null	Het
Zfp39	A	G	11: 58,902,747	V55A	probably benign	Het
Zfp616	A	T	11: 74,083,514	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,620,089	T674A	probably benign	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
R2401:Efcab3	UTSW	11	105072318	critical splice donor site	probably null
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
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

PCR Primer
(F):5'- AACACACTGTACATGCAGTTG -3'
(R):5'- CCTCAGGAGAGTGTGACTTTG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GACTTTGGTCTTACGGTTTCAGAACC -3'

Posted On

2020-01-23