Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02572:Efcab5'

299020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 77137888 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 206 (R206*)

Ref Sequence

ENSEMBL: ENSMUSP00000118152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108400] [ENSMUST00000130901]

Predicted Effect

probably null
Transcript: ENSMUST00000108400
AA Change: R342*

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: R342*

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
internal_repeat_1	250	352	2.42e-20	PROSPERO
internal_repeat_1	354	452	2.42e-20	PROSPERO
low complexity region	498	513	N/A	INTRINSIC
coiled coil region	749	776	N/A	INTRINSIC
GAF	877	1066	1.78e-2	SMART
low complexity region	1235	1245	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130901
AA Change: R206*

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: R206*

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
internal_repeat_1	114	216	1.89e-19	PROSPERO
internal_repeat_1	218	316	1.89e-19	PROSPERO
low complexity region	362	377	N/A	INTRINSIC
coiled coil region	613	640	N/A	INTRINSIC
GAF	741	930	1.78e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148985

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,725,171	N92S	probably damaging	Het
Abca2	T	C	2: 25,433,317	L99P	possibly damaging	Het
Adam19	T	A	11: 46,131,721	Y500*	probably null	Het
Amy1	A	T	3: 113,565,073		probably benign	Het
Aox3	T	C	1: 58,158,367	I624T	probably damaging	Het
Atad3a	C	T	4: 155,753,584	D244N	possibly damaging	Het
Atp5j2	C	A	5: 145,187,237		probably benign	Het
Bbof1	G	A	12: 84,428,365	D443N	probably damaging	Het
BC017158	A	T	7: 128,290,580		probably benign	Het
Bod1l	G	A	5: 41,821,230	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,066,579		probably benign	Het
Cgref1	A	G	5: 30,933,567	V301A	probably benign	Het
Coa6	T	C	8: 126,422,741	Y19H	probably damaging	Het
Cop1	T	A	1: 159,308,878		probably benign	Het
Dmrta1	T	C	4: 89,691,558	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,184,629	S484A	probably benign	Het
Dspp	A	T	5: 104,177,069	S433C	probably damaging	Het
Epop	A	T	11: 97,628,201	S361T	probably benign	Het
Fat3	T	A	9: 15,960,506	T3530S	probably benign	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,992,003	S6027A	probably benign	Het
Galnt14	A	G	17: 73,535,267	L209P	probably damaging	Het
Hif3a	C	A	7: 17,050,588	R25L	probably null	Het
Hsf5	A	G	11: 87,631,695		probably benign	Het
Il22ra2	A	T	10: 19,626,744	T104S	probably benign	Het
Klrk1	A	G	6: 129,615,353	S138P	probably damaging	Het
Lrp5	G	T	19: 3,614,283	Q815K	probably benign	Het
Morn4	A	G	19: 42,076,447		probably benign	Het
Nlrp14	T	A	7: 107,182,722	Y375*	probably null	Het
Nsd1	T	A	13: 55,296,130	M1714K	probably damaging	Het
Olfr171	T	A	16: 19,625,098	M1L	probably benign	Het
Olfr259	G	A	2: 87,108,366	T7I	possibly damaging	Het
Olfr806	T	A	10: 129,738,866	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,851,216	A877T	probably benign	Het
Pcsk2	G	A	2: 143,690,342	A137T	probably damaging	Het
Piezo1	A	G	8: 122,485,305	V2054A	probably benign	Het
Rad52	A	G	6: 119,915,227		probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sbno1	A	G	5: 124,381,677		probably benign	Het
Scrn1	C	T	6: 54,512,201	D312N	probably benign	Het
Sin3b	A	G	8: 72,744,481	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,664,446	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,926,296	M151V	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stra8	G	A	6: 34,939,159	D280N	probably damaging	Het
Thbs2	A	T	17: 14,677,013	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,531,889	T27A	probably benign	Het
Tmem38a	T	C	8: 72,579,974	F99S	probably damaging	Het
Tmod3	T	C	9: 75,509,385	T222A	probably benign	Het
Tnn	A	G	1: 160,086,107	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,849,159	I829N	probably damaging	Het
Trpm5	A	T	7: 143,087,876		probably benign	Het
Ttn	A	G	2: 76,767,871	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,203,058	D81G	probably damaging	Het
Zdhhc20	A	G	14: 57,890,107	V25A	probably benign	Het

Other mutations in Efcab5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Efcab5	APN	11	77137036	missense	probably benign	0.04
IGL01343:Efcab5	APN	11	77129930	missense	probably damaging	1.00
IGL02190:Efcab5	APN	11	77121314	missense	probably benign	0.38
IGL02270:Efcab5	APN	11	77104313	missense	probably damaging	0.97
IGL02653:Efcab5	APN	11	77132022	missense	probably damaging	0.99
IGL02818:Efcab5	APN	11	77105348	missense	probably damaging	0.99
IGL03068:Efcab5	APN	11	77104101	missense	probably benign
IGL03222:Efcab5	APN	11	77137367	missense	probably benign	0.40
IGL03226:Efcab5	APN	11	77137675	missense	possibly damaging	0.92
IGL03257:Efcab5	APN	11	77188770	missense	probably damaging	0.99
PIT4131001:Efcab5	UTSW	11	77137691
PIT4418001:Efcab5	UTSW	11	77132051	missense	possibly damaging	0.89
R0276:Efcab5	UTSW	11	77129876	missense	probably damaging	1.00
R0276:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0277:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0284:Efcab5	UTSW	11	77103527	intron	probably benign
R0386:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0386:Efcab5	UTSW	11	77172378	missense	probably benign	0.30
R0966:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R0968:Efcab5	UTSW	11	77140923	missense	probably damaging	1.00
R1433:Efcab5	UTSW	11	77105378	missense	probably benign	0.09
R1673:Efcab5	UTSW	11	77151853	missense	probably damaging	0.99
R1842:Efcab5	UTSW	11	77134875	missense	probably benign	0.00
R1848:Efcab5	UTSW	11	77103306	missense	probably damaging	1.00
R2069:Efcab5	UTSW	11	77172321	missense	probably benign	0.06
R3713:Efcab5	UTSW	11	77116182	missense	probably damaging	1.00
R4012:Efcab5	UTSW	11	77117830	missense	probably damaging	0.98
R4020:Efcab5	UTSW	11	77104104	missense	probably benign	0.33
R4391:Efcab5	UTSW	11	77090458	missense	probably damaging	0.99
R4392:Efcab5	UTSW	11	77090458	missense	probably damaging	0.99
R4692:Efcab5	UTSW	11	77113681	missense	probably damaging	1.00
R4929:Efcab5	UTSW	11	77103383	missense	probably benign	0.36
R4985:Efcab5	UTSW	11	77138229	missense	probably damaging	0.98
R4988:Efcab5	UTSW	11	77137252	missense	probably damaging	1.00
R5246:Efcab5	UTSW	11	77188845	missense	probably damaging	1.00
R5260:Efcab5	UTSW	11	77137651	missense	possibly damaging	0.92
R5387:Efcab5	UTSW	11	77134842	missense	possibly damaging	0.93
R5516:Efcab5	UTSW	11	77188789	missense	possibly damaging	0.62
R5535:Efcab5	UTSW	11	77151921	missense	probably damaging	1.00
R5694:Efcab5	UTSW	11	77188875	missense	probably benign	0.09
R5922:Efcab5	UTSW	11	77188744	missense	probably benign	0.44
R6030:Efcab5	UTSW	11	77121262	missense	probably damaging	1.00
R6030:Efcab5	UTSW	11	77121262	missense	probably damaging	1.00
R6183:Efcab5	UTSW	11	77137258	missense	probably benign	0.04
R6437:Efcab5	UTSW	11	77137902	missense	probably benign	0.25
R6442:Efcab5	UTSW	11	77105434	nonsense	probably null
R6592:Efcab5	UTSW	11	77113610	missense	possibly damaging	0.90
R6769:Efcab5	UTSW	11	77105432	missense	probably damaging	0.98
R7257:Efcab5	UTSW	11	77137779	missense	probably damaging	0.99
R7285:Efcab5	UTSW	11	77137344	missense	probably benign
R7285:Efcab5	UTSW	11	77138215	missense	possibly damaging	0.49
R7350:Efcab5	UTSW	11	77137561	missense	probably benign	0.05
R7369:Efcab5	UTSW	11	77117835	missense	possibly damaging	0.60
R7760:Efcab5	UTSW	11	77151926	missense	probably benign	0.31
X0061:Efcab5	UTSW	11	77116234	missense	probably damaging	1.00
Z1176:Efcab5	UTSW	11	77132139	missense	probably damaging	0.97

Posted On

2015-04-16