Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Efcab5'

711427

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 #

R9404 (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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,758,312	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Atad5	T	C	11: 80,114,238	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,319,408	S2P	probably damaging	Het
Cdh11	A	T	8: 102,679,622	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,289,755	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,275,941	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,862,448	T310A	probably benign	Het
Ewsr1	A	G	11: 5,072,940	M388T	unknown	Het
Fat2	A	G	11: 55,253,522		probably null	Het
Gm8225	T	A	17: 26,543,060	I75N	probably damaging	Het
Gsap	A	G	5: 21,269,921	Y526C	probably damaging	Het
Hk1	T	A	10: 62,296,080	I203F	possibly damaging	Het
Insl5	T	C	4: 103,018,338	R72G	probably benign	Het
Iqcb1	T	C	16: 36,851,270	V321A	probably damaging	Het
Iqcd	A	C	5: 120,600,536	T140P		Het
Kcnt2	T	A	1: 140,425,369	I272K	probably damaging	Het
Klhl25	A	C	7: 75,865,405	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrba	T	C	3: 86,297,917	V356A	probably damaging	Het
Mast4	A	G	13: 102,751,425	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,241,898	L105Q	probably damaging	Het
Megf6	T	A	4: 154,263,768	C902S		Het
Mgea5	CTCGGGTC	CTC	19: 45,754,657		probably null	Het
Mmp17	A	G	5: 129,605,677	D460G	possibly damaging	Het
Myh2	G	T	11: 67,179,628	A466S	probably damaging	Het
Neb	T	C	2: 52,257,776	N2744D	probably damaging	Het
Olfr1197	T	A	2: 88,729,207	M131L	probably benign	Het
Olfr169	C	T	16: 19,565,981	V301M	probably benign	Het
Olfr213	T	G	6: 116,540,747	I98S	probably damaging	Het
Olfr446	T	C	6: 42,927,816	V195A	probably benign	Het
Olfr541	T	A	7: 140,704,809	L186H	probably damaging	Het
Olfr972	A	T	9: 39,873,412	I46F	possibly damaging	Het
Parpbp	A	G	10: 88,114,549	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,670,014	T304A	probably benign	Het
Pcsk1	T	G	13: 75,132,223	S722R	probably benign	Het
Pcsk9	C	A	4: 106,454,526	R218L	probably damaging	Het
Pds5a	T	A	5: 65,618,964	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,819,069	V889L	probably benign	Het
Plekhh2	A	T	17: 84,571,040		probably null	Het
Pnn	A	G	12: 59,071,972	E447G	probably damaging	Het
Ppp2r3a	A	G	9: 101,148,641	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,268,550	H298R	probably benign	Het
Ptpn23	T	C	9: 110,386,957	N1277S		Het
Pus10	T	A	11: 23,711,202	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,801,319	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,432,615	C23*	probably null	Het
Runx1	T	C	16: 92,689,027	N140D	probably benign	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,526,696	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,467,599		probably benign	Het
Slc7a11	T	C	3: 50,381,039	H350R	possibly damaging	Het
Spaca6	T	C	17: 17,837,538	C155R	probably damaging	Het
Spire2	C	T	8: 123,363,338	R580*	probably null	Het
Srgap3	A	T	6: 112,729,655	M851K	probably benign	Het
Themis	A	G	10: 28,789,747	D602G	probably benign	Het
Tmem56	T	C	3: 121,235,082	N52S	probably benign	Het
Trak2	T	C	1: 58,921,137	T236A	possibly damaging	Het
Trrap	T	C	5: 144,815,415	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,754,156	S22203T	probably damaging	Het
Ube3a	A	G	7: 59,287,015	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912	I164V	probably benign	Het
Vcpip1	T	C	1: 9,747,631	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,802,039	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,419	T2799S	probably damaging	Het
Vps8	T	C	16: 21,608,177	S1337P	probably benign	Het
Zcchc6	A	T	13: 59,799,887	N873K	probably benign	Het
Zfp235	A	T	7: 24,140,437	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,772,540	K442E	probably damaging	Het
Zfp418	A	T	7: 7,182,105	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,825,760	G68S	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
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
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
R9651: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

2022-05-16