Mutagenetix > Incidental Mutation

Incidental Mutation 'R7994:Efcab8'

651916

Institutional Source

Beutler Lab

Gene Symbol

Efcab8

Ensembl Gene

ENSMUSG00000044083

Gene Name

EF-hand calcium binding domain 8

Synonyms

EG329541

MMRRC Submission

046035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153621851-153686671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153625724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 128 (G128E)

Ref Sequence

ENSEMBL: ENSMUSP00000135661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126656] [ENSMUST00000144827] [ENSMUST00000230058]

AlphaFold

Q8C9R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000144827
AA Change: G128E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135811
Gene: ENSMUSG00000044083
AA Change: G128E

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
SCOP:d1mr8a_	104	184	5e-7	SMART
Blast:EFh	155	178	2e-7	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000230058
AA Change: G128E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	C	5: 124,220,090 (GRCm39)	F318L	probably benign	Het
Adad1	T	C	3: 37,146,120 (GRCm39)	I496T	possibly damaging	Het
Amotl1	T	A	9: 14,504,657 (GRCm39)	N184Y	probably damaging	Het
Asz1	T	C	6: 18,054,640 (GRCm39)	I388V	probably benign	Het
Brpf1	C	G	6: 113,292,002 (GRCm39)	H349Q	probably damaging	Het
Cebpz	T	C	17: 79,242,028 (GRCm39)	D542G	probably damaging	Het
Cfap44	T	C	16: 44,252,501 (GRCm39)	V870A	probably damaging	Het
Cnga1	T	A	5: 72,762,003 (GRCm39)	I504F	probably damaging	Het
Col4a3	G	A	1: 82,640,627 (GRCm39)	G315D	unknown	Het
Commd10	A	G	18: 47,091,986 (GRCm39)	E11G	possibly damaging	Het
Coq9	A	C	8: 95,579,785 (GRCm39)	N247H	probably benign	Het
Cort	A	T	4: 149,209,762 (GRCm39)	C97S	probably damaging	Het
Dclre1b	T	C	3: 103,710,702 (GRCm39)	D403G	probably damaging	Het
Ercc5	T	C	1: 44,217,494 (GRCm39)	S946P	possibly damaging	Het
Fam221b	C	T	4: 43,665,514 (GRCm39)	V315M	probably damaging	Het
Fam3c	T	C	6: 22,308,459 (GRCm39)	K245E	probably damaging	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gadd45g	T	C	13: 52,001,803 (GRCm39)	S123P	possibly damaging	Het
Gm49368	A	G	7: 127,684,818 (GRCm39)	D396G	possibly damaging	Het
Gsto1	G	A	19: 47,847,899 (GRCm39)	R132K	probably benign	Het
Gtf3c2	T	C	5: 31,327,217 (GRCm39)	I327V	possibly damaging	Het
Hipk2	T	C	6: 38,795,403 (GRCm39)	K289E	possibly damaging	Het
Igkv4-80	G	T	6: 68,993,621 (GRCm39)	T90N	probably benign	Het
Ilrun	C	A	17: 27,986,917 (GRCm39)	A270S	probably benign	Het
Madcam1	A	T	10: 79,504,069 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,152,770 (GRCm39)	Y418H	probably damaging	Het
Myh10	T	C	11: 68,681,070 (GRCm39)		probably null	Het
Notch4	C	A	17: 34,797,064 (GRCm39)	H937Q	possibly damaging	Het
Npas2	G	T	1: 39,367,418 (GRCm39)	C313F	possibly damaging	Het
Nup93	A	G	8: 95,032,930 (GRCm39)	M565V	probably benign	Het
Or10al3	C	T	17: 38,012,326 (GRCm39)	T255I	probably damaging	Het
Or1x6	T	G	11: 50,938,967 (GRCm39)	V11G	probably benign	Het
Or52a5	T	A	7: 103,426,607 (GRCm39)	H315L	probably benign	Het
Or56b2j	T	A	7: 104,353,635 (GRCm39)	V287D	probably damaging	Het
Or6k4	G	T	1: 173,964,273 (GRCm39)		probably benign	Het
Otop1	C	T	5: 38,457,195 (GRCm39)	T318I	probably benign	Het
Pcdhgb6	A	G	18: 37,875,724 (GRCm39)	E144G	probably damaging	Het
Plekha8	T	C	6: 54,592,230 (GRCm39)	L18P	probably damaging	Het
Ppp1r13b	T	C	12: 111,798,776 (GRCm39)	D939G	probably damaging	Het
Prkag3	T	A	1: 74,786,414 (GRCm39)	Q177L	probably benign	Het
Rcor3	C	A	1: 191,785,945 (GRCm39)	S431I	probably damaging	Het
Scrib	G	A	15: 75,936,431 (GRCm39)	T475I	probably damaging	Het
Serpinb1a	T	A	13: 33,027,033 (GRCm39)	D303V	probably damaging	Het
Snrnp25	T	A	11: 32,157,569 (GRCm39)	V49E	probably benign	Het
Sobp	A	T	10: 42,897,163 (GRCm39)	Y807*	probably null	Het
Spata31e4	T	A	13: 50,856,900 (GRCm39)	V846D	probably benign	Het
Srcap	T	C	7: 127,140,930 (GRCm39)	V1570A	probably benign	Het
Srcin1	C	T	11: 97,422,742 (GRCm39)	V731M	probably damaging	Het
Syt2	A	T	1: 134,675,330 (GRCm39)	M394L	possibly damaging	Het
Tafa4	C	T	6: 96,840,847 (GRCm39)	E49K	probably damaging	Het
Tert	T	A	13: 73,797,074 (GRCm39)	I1104N	probably benign	Het
Ttn	T	C	2: 76,621,439 (GRCm39)	Y15667C	probably damaging	Het
Twnk	A	G	19: 44,996,277 (GRCm39)	T237A	probably benign	Het
Zfp157	T	A	5: 138,453,450 (GRCm39)		probably null	Het
Zfp503	C	A	14: 22,035,074 (GRCm39)	S614I	probably damaging	Het
Zswim8	T	A	14: 20,758,072 (GRCm39)	N52K	possibly damaging	Het

Other mutations in Efcab8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1709:Efcab8	UTSW	2	153,656,290 (GRCm39)	splice site	probably null
R2324:Efcab8	UTSW	2	153,625,729 (GRCm39)	splice site	probably null
R4002:Efcab8	UTSW	2	153,623,726 (GRCm39)	missense	probably benign	0.20
R5208:Efcab8	UTSW	2	153,644,343 (GRCm39)	nonsense	probably null
R5393:Efcab8	UTSW	2	153,622,903 (GRCm39)	missense	unknown
R5411:Efcab8	UTSW	2	153,625,676 (GRCm39)	missense	probably damaging	0.96
R5766:Efcab8	UTSW	2	153,622,912 (GRCm39)	missense	possibly damaging	0.90
R6255:Efcab8	UTSW	2	153,652,188 (GRCm39)	missense	possibly damaging	0.87
R6266:Efcab8	UTSW	2	153,625,688 (GRCm39)	missense	probably damaging	1.00
R6714:Efcab8	UTSW	2	153,631,130 (GRCm39)	missense	probably damaging	0.99
R6740:Efcab8	UTSW	2	153,646,814 (GRCm39)	missense	probably damaging	1.00
R7706:Efcab8	UTSW	2	153,623,695 (GRCm39)	missense
R7719:Efcab8	UTSW	2	153,629,665 (GRCm39)	missense
R7765:Efcab8	UTSW	2	153,685,110 (GRCm39)	missense
R7822:Efcab8	UTSW	2	153,652,832 (GRCm39)	missense	unknown
R8207:Efcab8	UTSW	2	153,631,145 (GRCm39)	missense	probably damaging	1.00
R8874:Efcab8	UTSW	2	153,640,569 (GRCm39)	missense
R8980:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9036:Efcab8	UTSW	2	153,622,888 (GRCm39)	missense
R9133:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9207:Efcab8	UTSW	2	153,656,339 (GRCm39)	missense	unknown
R9266:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9267:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9269:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9447:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9448:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9451:Efcab8	UTSW	2	153,646,861 (GRCm39)	missense	unknown
R9766:Efcab8	UTSW	2	153,656,362 (GRCm39)	missense	unknown
Z1177:Efcab8	UTSW	2	153,640,600 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- TATTTGTCCCAGATGGCCCAAC -3'
(R):5'- GACACACCAAAATGCTGCATGG -3'

Sequencing Primer
(F):5'- CAACCAGGTGGATCCCAGAAG -3'
(R):5'- ACACTTGGGTATCTGGACTAGCAG -3'

Posted On

2020-09-15