Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Efcab14'

585299

Institutional Source

Beutler Lab

Gene Symbol

Efcab14

Ensembl Gene

ENSMUSG00000034210

Gene Name

EF-hand calcium binding domain 14

Synonyms

4732418C07Rik

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115594941-115634524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115617159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 289 (S289R)

Ref Sequence

ENSEMBL: ENSMUSP00000074025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074425] [ENSMUST00000106522] [ENSMUST00000106524] [ENSMUST00000106525]

AlphaFold

Q8BGQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000074425
AA Change: S289R

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210
AA Change: S289R

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1fi6a_	425	498	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106522
AA Change: S289R

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210
AA Change: S289R

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
low complexity region	433	440	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106524

SMART Domains

Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1hqva_	360	418	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106525
AA Change: S289R

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210
AA Change: S289R

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
SCOP:d1hqva_	424	482	3e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,000,288 (GRCm39)	E681K	possibly damaging	Het
Accsl	A	T	2: 93,688,501 (GRCm39)	M411K	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Bag4	G	A	8: 26,267,507 (GRCm39)	R108*	probably null	Het
Cpa1	C	T	6: 30,641,767 (GRCm39)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,418,218 (GRCm39)	V50A	probably benign	Het
Dact1	A	G	12: 71,365,325 (GRCm39)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,588,297 (GRCm39)	V499I	probably damaging	Het
Depdc5	T	G	5: 33,058,854 (GRCm39)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,570,817 (GRCm39)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,170,272 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,437,140 (GRCm39)	L1037P	unknown	Het
Fsip2	G	A	2: 82,819,361 (GRCm39)	M5031I	probably benign	Het
Gm19410	A	G	8: 36,274,151 (GRCm39)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,261,499 (GRCm39)	Q44K		Het
Hdgfl2	T	A	17: 56,406,860 (GRCm39)	D591E	unknown	Het
Hk3	C	A	13: 55,159,209 (GRCm39)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,531,586 (GRCm39)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,743,337 (GRCm39)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,500,612 (GRCm39)	V659A	probably benign	Het
Lhb	C	T	7: 45,071,101 (GRCm39)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,798,854 (GRCm39)	I267T	probably benign	Het
Lypla1	T	A	1: 4,878,590 (GRCm39)		probably null	Het
Map3k21	T	C	8: 126,654,447 (GRCm39)		probably null	Het
Mapkbp1	A	G	2: 119,844,232 (GRCm39)	T319A	probably benign	Het
Mms19	T	C	19: 41,935,455 (GRCm39)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,911,495 (GRCm39)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,678,322 (GRCm39)	R668H	probably benign	Het
Myo5b	G	A	18: 74,767,582 (GRCm39)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,157,449 (GRCm39)	L412Q	probably damaging	Het
Nrtn	T	C	17: 57,058,473 (GRCm39)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,670,334 (GRCm39)	Q1134K	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or51t4	C	T	7: 102,598,473 (GRCm39)	P267L	probably damaging	Het
Pick1	T	C	15: 79,139,781 (GRCm39)	V360A	unknown	Het
Pigr	T	A	1: 130,769,403 (GRCm39)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,107,765 (GRCm39)	N96S	probably benign	Het
Pramel29	C	A	4: 143,939,525 (GRCm39)	C4F	probably damaging	Het
Qrfprl	G	T	6: 65,429,891 (GRCm39)	E196*	probably null	Het
Rasa1	T	C	13: 85,376,827 (GRCm39)	T603A	probably benign	Het
Rhd	T	C	4: 134,603,770 (GRCm39)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,887,415 (GRCm39)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,795,760 (GRCm39)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,044,937 (GRCm39)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,053,498 (GRCm39)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,638,108 (GRCm39)	V178D	probably damaging	Het
Smad7	C	A	18: 75,526,906 (GRCm39)	L251I	probably benign	Het
Sspo	G	A	6: 48,426,434 (GRCm39)	S151N	probably benign	Het
St3gal4	C	T	9: 34,963,549 (GRCm39)	R253Q	probably benign	Het
Trappc14	C	A	5: 138,261,104 (GRCm39)		probably null	Het
Ttbk1	T	C	17: 46,787,857 (GRCm39)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,798,864 (GRCm39)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm39)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,137,530 (GRCm39)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,752,740 (GRCm39)	C514*	probably null	Het
Zfp236	A	T	18: 82,662,366 (GRCm39)	C570*	probably null	Het
Zfp277	T	A	12: 40,379,594 (GRCm39)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,544,967 (GRCm39)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,248,954 (GRCm39)		probably benign	Het

Other mutations in Efcab14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02232:Efcab14	APN	4	115,617,261 (GRCm39)	splice site	probably benign
IGL02300:Efcab14	APN	4	115,616,093 (GRCm39)	critical splice donor site	probably null
IGL02598:Efcab14	APN	4	115,597,631 (GRCm39)	nonsense	probably null
IGL02680:Efcab14	APN	4	115,597,615 (GRCm39)	missense	probably damaging	1.00
IGL03066:Efcab14	APN	4	115,596,001 (GRCm39)	missense	probably benign	0.12
R0123:Efcab14	UTSW	4	115,597,728 (GRCm39)	missense	probably damaging	1.00
R0134:Efcab14	UTSW	4	115,597,728 (GRCm39)	missense	probably damaging	1.00
R1275:Efcab14	UTSW	4	115,613,670 (GRCm39)	missense	probably damaging	1.00
R1481:Efcab14	UTSW	4	115,613,714 (GRCm39)	missense	probably benign	0.07
R1590:Efcab14	UTSW	4	115,613,746 (GRCm39)	splice site	probably benign
R1694:Efcab14	UTSW	4	115,603,736 (GRCm39)	missense	possibly damaging	0.82
R1768:Efcab14	UTSW	4	115,610,116 (GRCm39)	critical splice acceptor site	probably null
R1769:Efcab14	UTSW	4	115,610,188 (GRCm39)	missense	probably damaging	1.00
R3887:Efcab14	UTSW	4	115,595,857 (GRCm39)	start codon destroyed	probably null	1.00
R4158:Efcab14	UTSW	4	115,597,594 (GRCm39)	missense	probably damaging	0.99
R4160:Efcab14	UTSW	4	115,597,594 (GRCm39)	missense	probably damaging	0.99
R5584:Efcab14	UTSW	4	115,621,794 (GRCm39)	missense	possibly damaging	0.49
R5690:Efcab14	UTSW	4	115,617,244 (GRCm39)	missense	possibly damaging	0.71
R5796:Efcab14	UTSW	4	115,603,780 (GRCm39)	missense	probably damaging	0.99
R5945:Efcab14	UTSW	4	115,613,664 (GRCm39)	missense	probably damaging	1.00
R6445:Efcab14	UTSW	4	115,613,668 (GRCm39)	missense	possibly damaging	0.74
R6761:Efcab14	UTSW	4	115,596,024 (GRCm39)	missense	probably damaging	1.00
R8030:Efcab14	UTSW	4	115,623,599 (GRCm39)	missense	probably benign	0.07
R8747:Efcab14	UTSW	4	115,603,793 (GRCm39)	missense	probably damaging	0.99
R9467:Efcab14	UTSW	4	115,610,208 (GRCm39)	missense	probably damaging	1.00
R9706:Efcab14	UTSW	4	115,625,901 (GRCm39)	missense	possibly damaging	0.90
R9760:Efcab14	UTSW	4	115,616,072 (GRCm39)	missense	probably benign	0.01
X0018:Efcab14	UTSW	4	115,623,683 (GRCm39)	missense	probably damaging	0.99
Z1177:Efcab14	UTSW	4	115,595,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGCAGATCTAAACGGTTGG -3'
(R):5'- GTGTGCACACTACTGTTCACAG -3'

Sequencing Primer
(F):5'- TCTAAACGGTTGGTGGTCACAAC -3'
(R):5'- CTGTTCACAGGGGATGGGGAAG -3'

Posted On

2019-10-17