Mutagenetix > Incidental Mutation

Incidental Mutation 'R6592:Efcab5'

524652

Institutional Source

Beutler Lab

Gene Symbol

Efcab5

Ensembl Gene

ENSMUSG00000050944

Gene Name

EF-hand calcium binding domain 5

Synonyms

4930563A03Rik

MMRRC Submission

044716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6592 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77089915-77188968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77113610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1097 (Q1097K)

Ref Sequence

ENSEMBL: ENSMUSP00000104037 (fasta)

Gene Model

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

AlphaFold

A0JP43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108400
AA Change: Q1097K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: Q1097K

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: Q961K

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: Q961K

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

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 107,023,718 (GRCm38)	V340A	possibly damaging	Het
Btbd17	T	C	11: 114,791,476 (GRCm38)	Y470C	probably damaging	Het
Clca1	G	C	3: 145,013,883 (GRCm38)	A442G	probably damaging	Het
Cyp4v3	A	T	8: 45,306,981 (GRCm38)	N511K	probably benign	Het
Epha7	T	C	4: 28,813,482 (GRCm38)		probably null	Het
Exoc6	A	G	19: 37,571,912 (GRCm38)	T126A	probably benign	Het
Fnip2	T	C	3: 79,481,708 (GRCm38)	Q572R	probably benign	Het
Gm17430	C	T	18: 9,726,514 (GRCm38)	V53I	probably benign	Het
Gpr149	T	C	3: 62,530,540 (GRCm38)	D732G	probably benign	Het
Hdlbp	A	G	1: 93,412,361 (GRCm38)		probably null	Het
Herc2	A	G	7: 56,207,690 (GRCm38)		probably null	Het
Htt	C	T	5: 34,877,044 (GRCm38)	T1953I	possibly damaging	Het
Lgmn	C	T	12: 102,404,270 (GRCm38)	V134I	probably damaging	Het
Lysmd1	A	G	3: 95,137,886 (GRCm38)	S148G	probably benign	Het
Man2a2	T	C	7: 80,353,199 (GRCm38)	D1054G	probably damaging	Het
Mcph1	A	G	8: 18,668,967 (GRCm38)	T640A	probably damaging	Het
Nat10	T	C	2: 103,754,150 (GRCm38)	E94G	probably null	Het
Olfr110	T	A	17: 37,499,097 (GRCm38)	W149R	probably damaging	Het
Olfr1200	G	A	2: 88,768,127 (GRCm38)	H63Y	probably damaging	Het
Pgm3	A	G	9: 86,559,443 (GRCm38)	V367A	possibly damaging	Het
Ppp1r1a	A	C	15: 103,531,372 (GRCm38)	D164E	probably damaging	Het
Proca1	G	T	11: 78,204,953 (GRCm38)	S137I	probably benign	Het
Serinc5	T	C	13: 92,708,126 (GRCm38)	F459L	possibly damaging	Het
Slc12a8	T	C	16: 33,617,256 (GRCm38)		probably null	Het
Slc51a	T	C	16: 32,475,803 (GRCm38)	D321G	probably damaging	Het
Tchhl1	T	A	3: 93,470,809 (GRCm38)	D273E	probably damaging	Het
Tlk1	G	A	2: 70,714,153 (GRCm38)	R713C	probably damaging	Het
Tmem211	A	G	5: 113,234,463 (GRCm38)	Y34C	probably damaging	Het
Tpr	T	C	1: 150,411,905 (GRCm38)	I465T	possibly damaging	Het
Usp1	A	G	4: 98,926,519 (GRCm38)	I5M	possibly damaging	Het
Zcchc14	T	C	8: 121,604,639 (GRCm38)		probably benign	Het

Other mutations in Efcab5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Efcab5	APN	11	77,137,036 (GRCm38)	missense	probably benign	0.04
IGL01343:Efcab5	APN	11	77,129,930 (GRCm38)	missense	probably damaging	1.00
IGL02190:Efcab5	APN	11	77,121,314 (GRCm38)	missense	probably benign	0.38
IGL02270:Efcab5	APN	11	77,104,313 (GRCm38)	missense	probably damaging	0.97
IGL02572:Efcab5	APN	11	77,137,888 (GRCm38)	nonsense	probably null
IGL02653:Efcab5	APN	11	77,132,022 (GRCm38)	missense	probably damaging	0.99
IGL02818:Efcab5	APN	11	77,105,348 (GRCm38)	missense	probably damaging	0.99
IGL03068:Efcab5	APN	11	77,104,101 (GRCm38)	missense	probably benign
IGL03222:Efcab5	APN	11	77,137,367 (GRCm38)	missense	probably benign	0.40
IGL03226:Efcab5	APN	11	77,137,675 (GRCm38)	missense	possibly damaging	0.92
IGL03257:Efcab5	APN	11	77,188,770 (GRCm38)	missense	probably damaging	0.99
PIT4131001:Efcab5	UTSW	11	77,137,691 (GRCm38)
PIT4418001:Efcab5	UTSW	11	77,132,051 (GRCm38)	missense	possibly damaging	0.89
R0276:Efcab5	UTSW	11	77,140,923 (GRCm38)	missense	probably damaging	1.00
R0276:Efcab5	UTSW	11	77,129,876 (GRCm38)	missense	probably damaging	1.00
R0277:Efcab5	UTSW	11	77,140,923 (GRCm38)	missense	probably damaging	1.00
R0284:Efcab5	UTSW	11	77,103,527 (GRCm38)	intron	probably benign
R0386:Efcab5	UTSW	11	77,172,378 (GRCm38)	missense	probably benign	0.30
R0386:Efcab5	UTSW	11	77,140,923 (GRCm38)	missense	probably damaging	1.00
R0966:Efcab5	UTSW	11	77,140,923 (GRCm38)	missense	probably damaging	1.00
R0968:Efcab5	UTSW	11	77,140,923 (GRCm38)	missense	probably damaging	1.00
R1433:Efcab5	UTSW	11	77,105,378 (GRCm38)	missense	probably benign	0.09
R1673:Efcab5	UTSW	11	77,151,853 (GRCm38)	missense	probably damaging	0.99
R1842:Efcab5	UTSW	11	77,134,875 (GRCm38)	missense	probably benign	0.00
R1848:Efcab5	UTSW	11	77,103,306 (GRCm38)	missense	probably damaging	1.00
R2069:Efcab5	UTSW	11	77,172,321 (GRCm38)	missense	probably benign	0.06
R3713:Efcab5	UTSW	11	77,116,182 (GRCm38)	missense	probably damaging	1.00
R4012:Efcab5	UTSW	11	77,117,830 (GRCm38)	missense	probably damaging	0.98
R4020:Efcab5	UTSW	11	77,104,104 (GRCm38)	missense	probably benign	0.33
R4391:Efcab5	UTSW	11	77,090,458 (GRCm38)	missense	probably damaging	0.99
R4392:Efcab5	UTSW	11	77,090,458 (GRCm38)	missense	probably damaging	0.99
R4692:Efcab5	UTSW	11	77,113,681 (GRCm38)	missense	probably damaging	1.00
R4929:Efcab5	UTSW	11	77,103,383 (GRCm38)	missense	probably benign	0.36
R4985:Efcab5	UTSW	11	77,138,229 (GRCm38)	missense	probably damaging	0.98
R4988:Efcab5	UTSW	11	77,137,252 (GRCm38)	missense	probably damaging	1.00
R5246:Efcab5	UTSW	11	77,188,845 (GRCm38)	missense	probably damaging	1.00
R5260:Efcab5	UTSW	11	77,137,651 (GRCm38)	missense	possibly damaging	0.92
R5387:Efcab5	UTSW	11	77,134,842 (GRCm38)	missense	possibly damaging	0.93
R5516:Efcab5	UTSW	11	77,188,789 (GRCm38)	missense	possibly damaging	0.62
R5535:Efcab5	UTSW	11	77,151,921 (GRCm38)	missense	probably damaging	1.00
R5694:Efcab5	UTSW	11	77,188,875 (GRCm38)	missense	probably benign	0.09
R5922:Efcab5	UTSW	11	77,188,744 (GRCm38)	missense	probably benign	0.44
R6030:Efcab5	UTSW	11	77,121,262 (GRCm38)	missense	probably damaging	1.00
R6030:Efcab5	UTSW	11	77,121,262 (GRCm38)	missense	probably damaging	1.00
R6183:Efcab5	UTSW	11	77,137,258 (GRCm38)	missense	probably benign	0.04
R6437:Efcab5	UTSW	11	77,137,902 (GRCm38)	missense	probably benign	0.25
R6442:Efcab5	UTSW	11	77,105,434 (GRCm38)	nonsense	probably null
R6769:Efcab5	UTSW	11	77,105,432 (GRCm38)	missense	probably damaging	0.98
R7257:Efcab5	UTSW	11	77,137,779 (GRCm38)	missense	probably damaging	0.99
R7285:Efcab5	UTSW	11	77,138,215 (GRCm38)	missense	possibly damaging	0.49
R7285:Efcab5	UTSW	11	77,137,344 (GRCm38)	missense	probably benign
R7350:Efcab5	UTSW	11	77,137,561 (GRCm38)	missense	probably benign	0.05
R7369:Efcab5	UTSW	11	77,117,835 (GRCm38)	missense	possibly damaging	0.60
R7760:Efcab5	UTSW	11	77,151,926 (GRCm38)	missense	probably benign	0.31
R8213:Efcab5	UTSW	11	77,116,071 (GRCm38)	missense	probably damaging	1.00
R8690:Efcab5	UTSW	11	77,103,289 (GRCm38)	missense	probably damaging	0.98
R9294:Efcab5	UTSW	11	77,121,238 (GRCm38)	missense	probably benign	0.03
R9310:Efcab5	UTSW	11	77,113,705 (GRCm38)	missense	probably benign	0.23
R9324:Efcab5	UTSW	11	77,113,720 (GRCm38)	missense	possibly damaging	0.95
R9404:Efcab5	UTSW	11	77,132,108 (GRCm38)	missense	probably damaging	0.99
R9405:Efcab5	UTSW	11	77,132,108 (GRCm38)	missense	probably damaging	0.99
R9407:Efcab5	UTSW	11	77,132,108 (GRCm38)	missense	probably damaging	0.99
R9509:Efcab5	UTSW	11	77,104,151 (GRCm38)	missense	possibly damaging	0.94
R9562:Efcab5	UTSW	11	77,132,108 (GRCm38)	missense	probably damaging	0.99
R9651:Efcab5	UTSW	11	77,132,108 (GRCm38)	missense	probably damaging	0.99
R9748:Efcab5	UTSW	11	77,116,196 (GRCm38)	nonsense	probably null
X0061:Efcab5	UTSW	11	77,116,234 (GRCm38)	missense	probably damaging	1.00
Z1176:Efcab5	UTSW	11	77,132,139 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CATCCAGCTGTGTTTGCCAC -3'
(R):5'- AAATTGTCGGTCTTCTCAGGG -3'

Sequencing Primer
(F):5'- GAAGACAACTCTCGGTAGCTGATTC -3'
(R):5'- TTCTCAGGGGGTCGCCAATG -3'

Posted On

2018-06-22