Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Efcab14'

164358

Institutional Source

Beutler Lab

Gene Symbol

Efcab14

Ensembl Gene

ENSMUSG00000034210

Gene Name

EF-hand calcium binding domain 14

Synonyms

4732418C07Rik

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115594941-115634524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115613714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 221 (T221A)

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: T221A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210
AA Change: T221A

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: T221A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210
AA Change: T221A

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
AA Change: T221A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210
AA Change: T221A

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: T221A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210
AA Change: T221A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136593

Meta Mutation Damage Score

0.0684

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	A	G	6: 43,251,568 (GRCm39)	H773R	probably damaging	Het
Bltp1	T	C	3: 37,062,583 (GRCm39)	V3365A	probably damaging	Het
Bmp3	G	A	5: 99,020,329 (GRCm39)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,148,722 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,238,678 (GRCm39)	G313D	probably benign	Het
Cd300ld2	T	A	11: 114,903,459 (GRCm39)	I129F	probably benign	Het
Cep170	T	C	1: 176,609,951 (GRCm39)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,637,696 (GRCm39)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,045,393 (GRCm39)	N336K	probably damaging	Het
Coil	T	A	11: 88,864,886 (GRCm39)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,183,041 (GRCm39)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,795,094 (GRCm39)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,036,032 (GRCm39)	D293N	probably benign	Het
Cyp2f2	T	C	7: 26,821,302 (GRCm39)	S72P	probably benign	Het
Dip2c	G	A	13: 9,601,902 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,731,918 (GRCm39)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,583,941 (GRCm39)	V469I	probably benign	Het
Ehbp1	T	C	11: 21,956,782 (GRCm39)	*1207W	probably null	Het
Eln	T	C	5: 134,735,426 (GRCm39)	K786E	probably damaging	Het
Fyb1	C	T	15: 6,649,128 (GRCm39)	P385S	probably benign	Het
Galr1	A	G	18: 82,423,866 (GRCm39)	I137T	possibly damaging	Het
Gcm1	A	T	9: 77,966,999 (GRCm39)	K73*	probably null	Het
Gemin5	T	C	11: 58,032,480 (GRCm39)	N775D	probably damaging	Het
Gli3	C	T	13: 15,788,435 (GRCm39)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,518,089 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,137 (GRCm39)	D569G	probably damaging	Het
Grina	T	A	15: 76,133,289 (GRCm39)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,292,310 (GRCm39)		probably null	Het
Kcnc4	C	T	3: 107,355,534 (GRCm39)	V305M	probably benign	Het
Kntc1	T	C	5: 123,916,338 (GRCm39)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,069,136 (GRCm39)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,586,809 (GRCm39)	T269A	probably benign	Het
Lamc1	T	C	1: 153,097,380 (GRCm39)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,755,650 (GRCm39)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,567,679 (GRCm39)	T1681A	unknown	Het
Mettl17	T	C	14: 52,128,160 (GRCm39)	L272P	probably benign	Het
Mib2	T	A	4: 155,741,456 (GRCm39)	S357C	probably benign	Het
Mmp19	C	A	10: 128,634,047 (GRCm39)	T316K	possibly damaging	Het
Mroh9	C	T	1: 162,854,078 (GRCm39)	G774E	probably damaging	Het
Myh1	T	C	11: 67,096,325 (GRCm39)		probably benign	Het
Ncor2	C	A	5: 125,104,202 (GRCm39)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm39)	T51S	probably benign	Het
Nsun3	A	T	16: 62,555,732 (GRCm39)	C265S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,623,517 (GRCm39)	N71K	probably damaging	Het
Or10a5	T	G	7: 106,635,356 (GRCm39)	L5R	probably benign	Het
Or5p73	C	T	7: 108,065,167 (GRCm39)	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm39)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,575,889 (GRCm39)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,502,616 (GRCm39)	V1241E	probably null	Het
Prpf39	C	T	12: 65,100,088 (GRCm39)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,292,309 (GRCm39)	V34A	probably benign	Het
Rab27a	G	A	9: 72,989,684 (GRCm39)	V52M	probably benign	Het
Rassf9	A	G	10: 102,381,895 (GRCm39)	T424A	probably benign	Het
Ripor3	G	T	2: 167,842,297 (GRCm39)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,466,867 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,826,516 (GRCm39)	V1366M	probably benign	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Tctn2	T	C	5: 124,745,826 (GRCm39)		noncoding transcript	Het
Tmem45a	A	T	16: 56,631,965 (GRCm39)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,845,487 (GRCm39)	R512S	probably damaging	Het
Trim37	T	A	11: 87,020,585 (GRCm39)	L22*	probably null	Het
Ttc6	A	G	12: 57,783,916 (GRCm39)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,775,960 (GRCm39)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,684,137 (GRCm39)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,715,592 (GRCm39)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,260,086 (GRCm39)	T259A	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
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
R7564:Efcab14	UTSW	4	115,617,159 (GRCm39)	missense	probably benign	0.33
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'- tttcacAGGCTTATTGTGCATTTTGAATACAT -3'
(R):5'- TGCCCCTTTTCCTTACTTCCATAAATCC -3'

Sequencing Primer
(F):5'- GCATTTTGAATACATGCATAGATGGC -3'
(R):5'- GCTCAGCTCAGTGGGAAATT -3'

Posted On

2014-03-28