Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Efcab5'

570521

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

045436-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76980741-77079794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 77028387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 315 (P315A)

Ref Sequence

ENSEMBL: ENSMUSP00000118152 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

probably benign
Transcript: ENSMUST00000108400
AA Change: P451A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: P451A

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 benign
Transcript: ENSMUST00000130901
AA Change: P315A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: P315A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	T	C	7: 132,476,578 (GRCm39)	F106S	probably damaging	Het
Acsf3	A	G	8: 123,512,685 (GRCm39)	T369A	probably benign	Het
Adgrf5	G	A	17: 43,739,335 (GRCm39)		probably null	Het
Aff1	T	A	5: 103,994,958 (GRCm39)	I1052K	probably benign	Het
Akap8	T	C	17: 32,535,549 (GRCm39)	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,111,653 (GRCm39)	M166L	probably benign	Het
Allc	T	A	12: 28,613,408 (GRCm39)	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,996,084 (GRCm39)	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,612,869 (GRCm39)	K8E	possibly damaging	Het
Bckdhb	T	A	9: 83,892,379 (GRCm39)	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,452,355 (GRCm39)		probably null	Het
Cd44	G	T	2: 102,664,607 (GRCm39)	N531K	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cr2	A	G	1: 194,837,594 (GRCm39)	V792A	probably benign	Het
Cstf3	T	C	2: 104,439,301 (GRCm39)	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,536,208 (GRCm39)	E151G	probably benign	Het
Dbr1	T	C	9: 99,464,602 (GRCm39)	F127S		Het
Ddit4	A	T	10: 59,787,317 (GRCm39)	D6E	probably damaging	Het
Disc1	G	C	8: 125,891,841 (GRCm39)	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,965 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,971,404 (GRCm39)	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,889,944 (GRCm39)	R608G	probably damaging	Het
Eif4a2	A	G	16: 22,932,012 (GRCm39)	Y392C	possibly damaging	Het
F5	G	T	1: 164,020,277 (GRCm39)	K917N	probably benign	Het
Fig4	T	C	10: 41,127,752 (GRCm39)	M571V	probably benign	Het
Flot2	T	A	11: 77,948,802 (GRCm39)	I259N	probably damaging	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gpr152	T	C	19: 4,192,963 (GRCm39)	V168A	possibly damaging	Het
H1f0	G	A	15: 78,913,103 (GRCm39)	G61D	probably damaging	Het
Ihh	T	A	1: 74,987,492 (GRCm39)	K183M	probably damaging	Het
Itga2	A	G	13: 114,973,738 (GRCm39)	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,196,827 (GRCm39)	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,779,310 (GRCm39)	L120R	probably damaging	Het
Krt14	C	A	11: 100,095,926 (GRCm39)	E211*	probably null	Het
Lars2	T	C	9: 123,256,545 (GRCm39)	L350P	probably damaging	Het
Lrba	T	C	3: 86,259,209 (GRCm39)	I1408T	probably damaging	Het
Lrrc27	A	G	7: 138,806,022 (GRCm39)	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,285,626 (GRCm39)	R617L	probably benign	Het
M1ap	A	G	6: 82,958,930 (GRCm39)	D187G	probably benign	Het
Marchf1	A	T	8: 66,921,051 (GRCm39)	K243*	probably null	Het
Med16	C	T	10: 79,739,031 (GRCm39)	V252M	probably damaging	Het
Micu3	T	C	8: 40,801,999 (GRCm39)	S189P	probably benign	Het
Mier2	C	A	10: 79,376,132 (GRCm39)	M264I	unknown	Het
Mindy4	A	T	6: 55,278,010 (GRCm39)	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,953,320 (GRCm39)	Q534*	probably null	Het
Mroh9	C	T	1: 162,903,858 (GRCm39)		probably null	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mta3	T	A	17: 84,015,870 (GRCm39)	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,491,476 (GRCm39)	H147L	probably damaging	Het
Nfam1	T	C	15: 82,894,640 (GRCm39)	K155R	probably benign	Het
Nlrp6	A	T	7: 140,501,191 (GRCm39)		probably benign	Het
Or1q1	T	A	2: 36,886,873 (GRCm39)	I17N	possibly damaging	Het
Or5d37	A	T	2: 87,923,542 (GRCm39)	F246Y	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Or6d13	A	G	6: 116,517,495 (GRCm39)	E27G	probably benign	Het
Or9g4	A	G	2: 85,505,189 (GRCm39)	F102S		Het
P4ha1	A	G	10: 59,186,240 (GRCm39)	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,288,723 (GRCm39)	D636E	probably benign	Het
Polr2a	A	G	11: 69,631,886 (GRCm39)	L1060P	possibly damaging	Het
Prr35	A	T	17: 26,165,685 (GRCm39)	V534D	probably damaging	Het
Ptgdr2	C	A	19: 10,918,319 (GRCm39)	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,925,853 (GRCm39)	R121S	probably benign	Het
Rasa2	T	C	9: 96,426,408 (GRCm39)	S813G	probably benign	Het
Rassf5	T	C	1: 131,106,273 (GRCm39)	K411E	possibly damaging	Het
Reep4	T	C	14: 70,783,987 (GRCm39)	Y35H	probably damaging	Het
Ror1	A	T	4: 100,283,140 (GRCm39)	M402L	probably benign	Het
Slc32a1	A	G	2: 158,456,326 (GRCm39)	E327G	probably damaging	Het
Spen	C	T	4: 141,206,696 (GRCm39)	E644K	unknown	Het
Tars3	C	G	7: 65,308,672 (GRCm39)	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,184,934 (GRCm39)	I92T	probably damaging	Het
Tifab	A	G	13: 56,324,120 (GRCm39)	S108P	probably damaging	Het
Traf1	T	C	2: 34,838,245 (GRCm39)	N198D	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Trim54	T	A	5: 31,294,505 (GRCm39)	D344E	probably benign	Het
Ttc28	A	T	5: 111,373,903 (GRCm39)	H1113L	probably damaging	Het
Vcam1	T	A	3: 115,908,211 (GRCm39)	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,104,219 (GRCm39)	T281S	probably benign	Het
Whrn	C	T	4: 63,350,196 (GRCm39)	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,777,151 (GRCm39)	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839 (GRCm39)	N2073K	probably benign	Het
Zgpat	T	A	2: 181,022,228 (GRCm39)	V163D		Het

Other mutations in Efcab5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Efcab5	APN	11	77,027,862 (GRCm39)	missense	probably benign	0.04
IGL01343:Efcab5	APN	11	77,020,756 (GRCm39)	missense	probably damaging	1.00
IGL02190:Efcab5	APN	11	77,012,140 (GRCm39)	missense	probably benign	0.38
IGL02270:Efcab5	APN	11	76,995,139 (GRCm39)	missense	probably damaging	0.97
IGL02572:Efcab5	APN	11	77,028,714 (GRCm39)	nonsense	probably null
IGL02653:Efcab5	APN	11	77,022,848 (GRCm39)	missense	probably damaging	0.99
IGL02818:Efcab5	APN	11	76,996,174 (GRCm39)	missense	probably damaging	0.99
IGL03068:Efcab5	APN	11	76,994,927 (GRCm39)	missense	probably benign
IGL03222:Efcab5	APN	11	77,028,193 (GRCm39)	missense	probably benign	0.40
IGL03226:Efcab5	APN	11	77,028,501 (GRCm39)	missense	possibly damaging	0.92
IGL03257:Efcab5	APN	11	77,079,596 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Efcab5	UTSW	11	77,028,517 (GRCm39)
PIT4418001:Efcab5	UTSW	11	77,022,877 (GRCm39)	missense	possibly damaging	0.89
R0276:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0276:Efcab5	UTSW	11	77,020,702 (GRCm39)	missense	probably damaging	1.00
R0277:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0284:Efcab5	UTSW	11	76,994,353 (GRCm39)	intron	probably benign
R0386:Efcab5	UTSW	11	77,063,204 (GRCm39)	missense	probably benign	0.30
R0386:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0966:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R0968:Efcab5	UTSW	11	77,031,749 (GRCm39)	missense	probably damaging	1.00
R1433:Efcab5	UTSW	11	76,996,204 (GRCm39)	missense	probably benign	0.09
R1673:Efcab5	UTSW	11	77,042,679 (GRCm39)	missense	probably damaging	0.99
R1842:Efcab5	UTSW	11	77,025,701 (GRCm39)	missense	probably benign	0.00
R1848:Efcab5	UTSW	11	76,994,132 (GRCm39)	missense	probably damaging	1.00
R2069:Efcab5	UTSW	11	77,063,147 (GRCm39)	missense	probably benign	0.06
R3713:Efcab5	UTSW	11	77,007,008 (GRCm39)	missense	probably damaging	1.00
R4012:Efcab5	UTSW	11	77,008,656 (GRCm39)	missense	probably damaging	0.98
R4020:Efcab5	UTSW	11	76,994,930 (GRCm39)	missense	probably benign	0.33
R4391:Efcab5	UTSW	11	76,981,284 (GRCm39)	missense	probably damaging	0.99
R4392:Efcab5	UTSW	11	76,981,284 (GRCm39)	missense	probably damaging	0.99
R4692:Efcab5	UTSW	11	77,004,507 (GRCm39)	missense	probably damaging	1.00
R4929:Efcab5	UTSW	11	76,994,209 (GRCm39)	missense	probably benign	0.36
R4985:Efcab5	UTSW	11	77,029,055 (GRCm39)	missense	probably damaging	0.98
R4988:Efcab5	UTSW	11	77,028,078 (GRCm39)	missense	probably damaging	1.00
R5246:Efcab5	UTSW	11	77,079,671 (GRCm39)	missense	probably damaging	1.00
R5260:Efcab5	UTSW	11	77,028,477 (GRCm39)	missense	possibly damaging	0.92
R5387:Efcab5	UTSW	11	77,025,668 (GRCm39)	missense	possibly damaging	0.93
R5516:Efcab5	UTSW	11	77,079,615 (GRCm39)	missense	possibly damaging	0.62
R5535:Efcab5	UTSW	11	77,042,747 (GRCm39)	missense	probably damaging	1.00
R5694:Efcab5	UTSW	11	77,079,701 (GRCm39)	missense	probably benign	0.09
R5922:Efcab5	UTSW	11	77,079,570 (GRCm39)	missense	probably benign	0.44
R6030:Efcab5	UTSW	11	77,012,088 (GRCm39)	missense	probably damaging	1.00
R6030:Efcab5	UTSW	11	77,012,088 (GRCm39)	missense	probably damaging	1.00
R6183:Efcab5	UTSW	11	77,028,084 (GRCm39)	missense	probably benign	0.04
R6437:Efcab5	UTSW	11	77,028,728 (GRCm39)	missense	probably benign	0.25
R6442:Efcab5	UTSW	11	76,996,260 (GRCm39)	nonsense	probably null
R6592:Efcab5	UTSW	11	77,004,436 (GRCm39)	missense	possibly damaging	0.90
R6769:Efcab5	UTSW	11	76,996,258 (GRCm39)	missense	probably damaging	0.98
R7257:Efcab5	UTSW	11	77,028,605 (GRCm39)	missense	probably damaging	0.99
R7285:Efcab5	UTSW	11	77,029,041 (GRCm39)	missense	possibly damaging	0.49
R7285:Efcab5	UTSW	11	77,028,170 (GRCm39)	missense	probably benign
R7369:Efcab5	UTSW	11	77,008,661 (GRCm39)	missense	possibly damaging	0.60
R7760:Efcab5	UTSW	11	77,042,752 (GRCm39)	missense	probably benign	0.31
R8213:Efcab5	UTSW	11	77,006,897 (GRCm39)	missense	probably damaging	1.00
R8690:Efcab5	UTSW	11	76,994,115 (GRCm39)	missense	probably damaging	0.98
R9294:Efcab5	UTSW	11	77,012,064 (GRCm39)	missense	probably benign	0.03
R9310:Efcab5	UTSW	11	77,004,531 (GRCm39)	missense	probably benign	0.23
R9324:Efcab5	UTSW	11	77,004,546 (GRCm39)	missense	possibly damaging	0.95
R9404:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9405:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9407:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9509:Efcab5	UTSW	11	76,994,977 (GRCm39)	missense	possibly damaging	0.94
R9562:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9651:Efcab5	UTSW	11	77,022,934 (GRCm39)	missense	probably damaging	0.99
R9748:Efcab5	UTSW	11	77,007,022 (GRCm39)	nonsense	probably null
X0061:Efcab5	UTSW	11	77,007,060 (GRCm39)	missense	probably damaging	1.00
Z1176:Efcab5	UTSW	11	77,022,965 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TACGGATCCTCTGTGCTGTC -3'
(R):5'- CCCGAAGAAGCTCTACAGTAG -3'

Sequencing Primer
(F):5'- GATCCTCTGCGTGACCCTG -3'
(R):5'- TCTACAGTAGAACAAACCCAGCGG -3'

Posted On

2019-09-13