Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03221:Efhb'

413650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03221

Quality Score

Status

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53706014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 841 (L841P)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024725
AA Change: L841P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: L841P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b2	C	T	6: 113,737,820 (GRCm39)		probably benign	Het
BC051665	T	A	13: 60,932,242 (GRCm39)	K116*	probably null	Het
Birc6	A	T	17: 74,934,002 (GRCm39)	T2538S	probably benign	Het
Btn2a2	A	G	13: 23,662,619 (GRCm39)	S435P	probably damaging	Het
Etv4	C	T	11: 101,664,988 (GRCm39)	R155K	probably damaging	Het
Fnbp4	T	A	2: 90,608,062 (GRCm39)	M928K	possibly damaging	Het
Grin2c	A	G	11: 115,144,870 (GRCm39)		probably benign	Het
Grip1	A	T	10: 119,822,299 (GRCm39)	M342L	probably benign	Het
H60c	T	A	10: 3,209,799 (GRCm39)	K163*	probably null	Het
Hycc2	C	A	1: 58,579,345 (GRCm39)	V231L	probably benign	Het
Lilrb4b	A	G	10: 51,357,524 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mast4	A	G	13: 102,890,764 (GRCm39)	V838A	possibly damaging	Het
Mypn	C	A	10: 62,966,902 (GRCm39)	D925Y	probably damaging	Het
Nol6	T	C	4: 41,124,166 (GRCm39)	D27G	probably benign	Het
Or4c105	T	C	2: 88,647,781 (GRCm39)	S89P	possibly damaging	Het
Or5b97	G	T	19: 12,878,905 (GRCm39)	P80T	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Pik3c2g	A	G	6: 139,718,133 (GRCm39)		probably null	Het
Pik3c3	G	T	18: 30,435,984 (GRCm39)	M394I	probably benign	Het
Rfx7	C	T	9: 72,526,088 (GRCm39)	R1093C	probably damaging	Het
Scin	A	G	12: 40,126,973 (GRCm39)	V458A	probably benign	Het
Slc34a1	T	C	13: 55,548,591 (GRCm39)	V39A	probably benign	Het
Slc6a4	A	G	11: 76,917,931 (GRCm39)	M558V	probably benign	Het
Smpx	T	C	X: 156,503,994 (GRCm39)	V65A	probably damaging	Het
Tmem200a	A	T	10: 25,869,922 (GRCm39)	F116I	possibly damaging	Het
Tnfrsf19	A	T	14: 61,262,227 (GRCm39)	V12E	probably benign	Het
Trpc1	C	T	9: 95,588,953 (GRCm39)	R757H	probably damaging	Het
Ttc38	T	A	15: 85,718,742 (GRCm39)	S51T	probably benign	Het
Wee1	G	A	7: 109,726,024 (GRCm39)	C378Y	probably damaging	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
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
R2415:Efhb	UTSW	17	53,770,124 (GRCm39)	missense	probably benign	0.01
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

Posted On

2016-08-02