Mutagenetix > Incidental Mutation

Incidental Mutation 'R2415:Efhb'

248991

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

040379-MU

Accession Numbers

Essential gene?

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

Stock #

R2415 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53770124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 62 (F62I)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024725]

AlphaFold

Q8CDU5

Predicted Effect

probably benign
Transcript: ENSMUST00000024725
AA Change: F62I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: F62I

Domain	Start	End	E-Value	Type
low complexity region	565	574	N/A	INTRINSIC
EFh	585	613	2.14e-1	SMART
EFh	621	649	1.98e0	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano6	A	T	15: 95,860,161 (GRCm39)	N761I	probably damaging	Het
Atad5	T	C	11: 79,985,077 (GRCm39)	S55P	probably damaging	Het
Cul9	T	A	17: 46,854,364 (GRCm39)	T113S	probably benign	Het
Ddx56	G	A	11: 6,211,727 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,070,186 (GRCm39)	V467A	probably damaging	Het
Efl1	T	A	7: 82,347,175 (GRCm39)	M567K	probably damaging	Het
Fbxw21	G	T	9: 108,985,469 (GRCm39)	A103E	possibly damaging	Het
Flnb	T	A	14: 7,929,932 (GRCm38)	S2021T	probably benign	Het
Gabpa	T	C	16: 84,641,256 (GRCm39)		probably null	Het
Grid1	A	T	14: 35,172,326 (GRCm39)	I611F	possibly damaging	Het
Hdac1	A	C	4: 129,416,754 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,191,880 (GRCm39)	E427G	possibly damaging	Het
Kcnu1	A	T	8: 26,400,906 (GRCm39)	T685S	probably benign	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Ky	G	T	9: 102,419,090 (GRCm39)	G366W	probably damaging	Het
Limch1	T	C	5: 67,131,977 (GRCm39)	S147P	probably damaging	Het
Mroh1	A	G	15: 76,305,411 (GRCm39)	K405E	probably damaging	Het
Myo15b	T	G	11: 115,770,390 (GRCm39)	F67V	probably benign	Het
Nlrp4c	A	G	7: 6,069,047 (GRCm39)	D316G	probably damaging	Het
Nudt12	A	G	17: 59,313,603 (GRCm39)	V325A	probably damaging	Het
Pdia4	G	T	6: 47,783,490 (GRCm39)	D184E	probably benign	Het
Per3	A	C	4: 151,097,147 (GRCm39)	F793V	possibly damaging	Het
Pla1a	T	A	16: 38,228,112 (GRCm39)	Y255F	possibly damaging	Het
Rxfp1	A	G	3: 79,570,626 (GRCm39)	S269P	probably benign	Het
S100pbp	A	T	4: 129,075,614 (GRCm39)	V118D	possibly damaging	Het
Sec24b	A	T	3: 129,789,729 (GRCm39)	I764N	probably benign	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Surf6	C	T	2: 26,782,274 (GRCm39)	R351H	probably damaging	Het
Tspan15	A	G	10: 62,037,570 (GRCm39)	I115T	probably benign	Het
Vmn2r73	T	C	7: 85,521,431 (GRCm39)	Y179C	probably damaging	Het
Zfp750	T	C	11: 121,403,305 (GRCm39)	D481G	probably benign	Het

Other mutations in Efhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Efhb	APN	17	53,769,481 (GRCm39)	missense	probably damaging	1.00
IGL00990:Efhb	APN	17	53,769,649 (GRCm39)	missense	possibly damaging	0.86
IGL02041:Efhb	APN	17	53,733,287 (GRCm39)	missense	probably damaging	1.00
IGL02247:Efhb	APN	17	53,708,652 (GRCm39)	missense	probably benign	0.00
IGL02637:Efhb	APN	17	53,756,580 (GRCm39)	missense	probably benign	0.26
IGL02704:Efhb	APN	17	53,733,297 (GRCm39)	missense	probably damaging	1.00
IGL03083:Efhb	APN	17	53,706,087 (GRCm39)	missense	probably damaging	1.00
IGL03090:Efhb	APN	17	53,769,958 (GRCm39)	missense	probably benign	0.01
IGL03221:Efhb	APN	17	53,706,014 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Efhb	UTSW	17	53,752,803 (GRCm39)	missense	probably damaging	1.00
R0632:Efhb	UTSW	17	53,720,487 (GRCm39)	splice site	probably benign
R1234:Efhb	UTSW	17	53,758,615 (GRCm39)	nonsense	probably null
R1466:Efhb	UTSW	17	53,744,206 (GRCm39)	missense	probably damaging	0.99
R1466:Efhb	UTSW	17	53,744,206 (GRCm39)	missense	probably damaging	0.99
R1471:Efhb	UTSW	17	53,706,140 (GRCm39)	missense	possibly damaging	0.46
R1624:Efhb	UTSW	17	53,733,306 (GRCm39)	missense	probably damaging	1.00
R2019:Efhb	UTSW	17	53,708,505 (GRCm39)	missense	probably damaging	1.00
R2085:Efhb	UTSW	17	53,733,937 (GRCm39)	critical splice donor site	probably null
R2226:Efhb	UTSW	17	53,769,457 (GRCm39)	critical splice donor site	probably null
R3848:Efhb	UTSW	17	53,734,024 (GRCm39)	splice site	probably benign
R3858:Efhb	UTSW	17	53,769,808 (GRCm39)	missense	possibly damaging	0.61
R4581:Efhb	UTSW	17	53,733,303 (GRCm39)	missense	probably damaging	1.00
R4712:Efhb	UTSW	17	53,758,697 (GRCm39)	missense	probably damaging	1.00
R4731:Efhb	UTSW	17	53,733,272 (GRCm39)	missense	probably damaging	1.00
R4732:Efhb	UTSW	17	53,733,272 (GRCm39)	missense	probably damaging	1.00
R4733:Efhb	UTSW	17	53,733,272 (GRCm39)	missense	probably damaging	1.00
R5375:Efhb	UTSW	17	53,708,654 (GRCm39)	missense	possibly damaging	0.93
R5886:Efhb	UTSW	17	53,758,582 (GRCm39)	missense	probably benign	0.42
R6054:Efhb	UTSW	17	53,706,027 (GRCm39)	missense	possibly damaging	0.90
R6195:Efhb	UTSW	17	53,769,580 (GRCm39)	missense	possibly damaging	0.62
R6233:Efhb	UTSW	17	53,769,580 (GRCm39)	missense	possibly damaging	0.62
R6450:Efhb	UTSW	17	53,759,632 (GRCm39)	missense	possibly damaging	0.77
R6550:Efhb	UTSW	17	53,728,968 (GRCm39)	missense	probably benign	0.06
R6701:Efhb	UTSW	17	53,706,091 (GRCm39)	missense	probably benign	0.41
R6967:Efhb	UTSW	17	53,770,196 (GRCm39)	missense	probably benign	0.03
R7157:Efhb	UTSW	17	53,707,928 (GRCm39)	missense	probably damaging	1.00
R7441:Efhb	UTSW	17	53,708,549 (GRCm39)	missense	possibly damaging	0.78
R7694:Efhb	UTSW	17	53,707,836 (GRCm39)	missense	probably damaging	0.99
R8044:Efhb	UTSW	17	53,706,143 (GRCm39)	missense	probably benign	0.41
R8176:Efhb	UTSW	17	53,707,874 (GRCm39)	missense	probably damaging	1.00
R8309:Efhb	UTSW	17	53,756,563 (GRCm39)	missense	probably damaging	0.99
R8311:Efhb	UTSW	17	53,720,489 (GRCm39)	critical splice donor site	probably null
R8821:Efhb	UTSW	17	53,707,772 (GRCm39)	critical splice donor site	probably benign
R8882:Efhb	UTSW	17	53,769,712 (GRCm39)	missense	probably damaging	1.00
R9146:Efhb	UTSW	17	53,769,644 (GRCm39)	missense	probably benign	0.00
R9211:Efhb	UTSW	17	53,756,507 (GRCm39)	missense	probably damaging	0.96
R9760:Efhb	UTSW	17	53,770,298 (GRCm39)	missense	probably damaging	0.96
RF003:Efhb	UTSW	17	53,707,919 (GRCm39)	missense	probably damaging	1.00
RF012:Efhb	UTSW	17	53,720,545 (GRCm39)	missense	probably damaging	0.97
Z1177:Efhb	UTSW	17	53,744,211 (GRCm39)	missense	probably benign	0.26
Z1177:Efhb	UTSW	17	53,744,154 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGAGGTTTTGATCCCTGGAAGG -3'
(R):5'- AGGCAGGAAGTAGTCTGCAC -3'

Sequencing Primer
(F):5'- TTTGATCCCTGGAAGGCAGAGC -3'
(R):5'- AGTAGTCTGCACGGAGTACTG -3'

Posted On

2014-11-12