Mutagenetix > Incidental Mutation

Incidental Mutation 'R9651:Efcab5'

727120

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R9651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77132108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 593 (T593I)

Ref Sequence

ENSEMBL: ENSMUSP00000118152 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably damaging
Transcript: ENSMUST00000108400
AA Change: T729I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: T729I

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 damaging
Transcript: ENSMUST00000130901
AA Change: T593I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: T593I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 105,709,972	S267P		Het
Abca13	C	T	11: 9,293,741	P1868L	probably benign	Het
Abca13	A	G	11: 9,585,484	S4703G	probably benign	Het
Abca9	A	T	11: 110,115,493	M1262K	probably benign	Het
Acta1	A	T	8: 123,892,692	Y220*	probably null	Het
Actr6	A	G	10: 89,729,015	V24A	probably damaging	Het
Adam30	T	C	3: 98,162,620	Y590H	possibly damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Ankle2	A	G	5: 110,237,795	I337V	probably benign	Het
Arid2	T	C	15: 96,358,941	V220A	probably benign	Het
Atp8b2	T	C	3: 89,958,296	D99G	probably damaging	Het
Baz1b	A	T	5: 135,223,168	H940L	probably benign	Het
Cacna1d	C	T	14: 30,042,924	V2017I	probably benign	Het
Cd226	T	A	18: 89,247,271	C224*	probably null	Het
Cdrt4	T	A	11: 62,992,640	I56N	possibly damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Cryz	A	G	3: 154,622,128	Q289R	probably benign	Het
Csn1s2b	T	A	5: 87,820,961	M94K	probably benign	Het
Ctnnd1	T	C	2: 84,609,555	K804E	possibly damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Cyr61	G	T	3: 145,648,828	N109K	probably damaging	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dffa	A	G	4: 149,106,217	T68A	probably damaging	Het
Dnah2	C	T	11: 69,450,998		probably null	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Epn3	C	T	11: 94,492,861		probably null	Het
Fem1c	A	T	18: 46,524,607	D13E		Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Fpr2	T	A	17: 17,893,222	I160N	probably benign	Het
Gabra1	A	G	11: 42,155,026	Y86H	probably damaging	Het
Gabrb3	T	C	7: 57,765,454	Y91H	probably damaging	Het
Gcn1l1	T	C	5: 115,609,606		probably null	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gpr152	T	G	19: 4,142,615	W52G	probably damaging	Het
Hsd17b12	A	G	2: 94,157,736	V45A	probably benign	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Il16	T	A	7: 83,682,856	N172I	probably damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Lama1	T	C	17: 67,794,220	S1903P		Het
Llgl2	A	T	11: 115,852,115		probably null	Het
Mical1	A	T	10: 41,486,026		probably null	Het
Muc2	C	T	7: 141,701,445	P262S	probably damaging	Het
Myo9a	A	G	9: 59,871,481	R1507G	probably damaging	Het
Ndst1	G	A	18: 60,700,467	H491Y	probably damaging	Het
Nfasc	T	C	1: 132,600,053	T872A	probably benign	Het
Nipal3	A	T	4: 135,447,323	C372*	probably null	Het
Nmrk1	A	G	19: 18,639,565	H26R	probably benign	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1454	T	G	19: 13,063,892	D160E	probably benign	Het
Olfr164	C	T	16: 19,286,739	M1I	probably null	Het
Olfr221	T	C	14: 52,035,748	D121G	probably damaging	Het
Olfr557	T	A	7: 102,698,625	M129K	probably damaging	Het
P2ry12	T	C	3: 59,227,510		probably benign	Het
Pax8	T	A	2: 24,441,161	D174V	probably damaging	Het
Pbxip1	A	G	3: 89,445,488	D147G	probably damaging	Het
Pnpla7	T	C	2: 25,002,919	S451P	probably benign	Het
Polm	A	G	11: 5,831,732	Y255H	probably damaging	Het
Rdh14	T	A	12: 10,391,118	C93*	probably null	Het
Rnf213	C	A	11: 119,440,412	S2150Y		Het
Rpap1	G	A	2: 119,768,003	P1111L	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Sbp	A	G	17: 23,945,445	*200W	probably null	Het
Scn10a	A	G	9: 119,609,997	M1601T	probably benign	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc4a1	A	T	11: 102,351,430	I821N	probably damaging	Het
Spaca6	T	A	17: 17,837,567	D164E	probably benign	Het
Synj1	T	C	16: 90,938,524	T1514A	probably benign	Het
Synj1	C	T	16: 90,960,455	V902I	possibly damaging	Het
Tctn1	A	G	5: 122,246,513	Y443H	probably benign	Het
Thoc5	C	T	11: 4,899,883	R25W	possibly damaging	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Trim45	C	T	3: 100,925,389	Q313*	probably null	Het
Ubqlnl	T	C	7: 104,149,915	D125G	possibly damaging	Het
Ubr4	A	T	4: 139,479,548	E4926V	unknown	Het
Usp5	T	C	6: 124,822,538	D349G	possibly damaging	Het
Vmn1r25	T	A	6: 57,979,321		probably benign	Het
Xirp2	A	G	2: 67,513,823	Q2136R	possibly damaging	Het
Zfp28	G	A	7: 6,392,624	R134H		Het
Zfp712	A	G	13: 67,040,760	S568P	probably benign	Het
Znrd1as	C	T	17: 36,965,461	Q242*	probably null	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
IGL02572:Efcab5	APN	11	77137888	nonsense	probably null
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
R8213:Efcab5	UTSW	11	77116071	missense	probably damaging	1.00
R8690:Efcab5	UTSW	11	77103289	missense	probably damaging	0.98
R9294:Efcab5	UTSW	11	77121238	missense	probably benign	0.03
R9310:Efcab5	UTSW	11	77113705	missense	probably benign	0.23
R9324:Efcab5	UTSW	11	77113720	missense	possibly damaging	0.95
R9404:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9405:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9407:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9509:Efcab5	UTSW	11	77104151	missense	possibly damaging	0.94
R9562:Efcab5	UTSW	11	77132108	missense	probably damaging	0.99
R9748:Efcab5	UTSW	11	77116196	nonsense	probably null
X0061:Efcab5	UTSW	11	77116234	missense	probably damaging	1.00
Z1176:Efcab5	UTSW	11	77132139	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGTTGTACATTTCTAAAGAGATGGC -3'
(R):5'- ACAATGTGATGGGAGGCATC -3'

Sequencing Primer
(F):5'- TGGCACACTAGGAGGAAGAACC -3'
(R):5'- AACAGGTACCATAGGTTTTCCC -3'

Posted On

2022-10-06