Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Efhb'

418324

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

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

53398889-53463321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53462930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 117 (Q117R)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

probably benign
Transcript: ENSMUST00000024725
AA Change: Q117R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: Q117R

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 40,794,928	Y25C	probably benign	Het
Agap3	A	C	5: 24,501,206	T823P	possibly damaging	Het
Arap3	T	C	18: 37,989,112	E641G	probably benign	Het
Armc6	C	T	8: 70,231,354	R16Q	probably benign	Het
Asb15	T	A	6: 24,567,186	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,530,604	N275I	probably damaging	Het
BC022687	T	C	12: 112,815,720		probably null	Het
Calr	G	A	8: 84,846,744	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,919,296	L477*	probably null	Het
Cnnm4	A	G	1: 36,471,871	D60G	probably benign	Het
Col12a1	G	T	9: 79,678,370	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,897,466	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,558,086	T69A	probably damaging	Het
Fancd2	T	A	6: 113,537,597		probably null	Het
Fat3	C	T	9: 16,377,239	W329*	probably null	Het
Frem3	A	G	8: 80,618,229	Y1727C	probably benign	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gatb	C	A	3: 85,619,023		probably benign	Het
Gpr33	A	T	12: 52,024,026	S77T	probably damaging	Het
Gramd1c	A	T	16: 43,982,100	D649E	probably benign	Het
Herc2	T	A	7: 56,204,473	L3745H	probably damaging	Het
Klk11	T	A	7: 43,777,553	M87K	probably benign	Het
Krt39	T	G	11: 99,519,007		probably benign	Het
Lamc3	T	A	2: 31,908,698		probably benign	Het
Lars2	T	G	9: 123,455,960	M786R	probably damaging	Het
Lmcd1	T	A	6: 112,310,499	S49T	probably benign	Het
Lrba	T	C	3: 86,773,141	Y2689H	probably benign	Het
Map3k6	T	C	4: 133,243,366	V188A	probably benign	Het
Mbd6	A	C	10: 127,287,144	L49W	probably damaging	Het
Myo5a	A	T	9: 75,120,833	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,894,135		probably benign	Het
Ncoa7	T	C	10: 30,662,400	D663G	probably damaging	Het
Nup214	A	T	2: 32,018,242	M1075L	probably benign	Het
Pkd1l3	C	A	8: 109,655,533	Y240*	probably null	Het
Pomk	T	A	8: 25,983,310	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575		probably benign	Het
Setd1a	A	G	7: 127,786,500	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,860,691	E541G	probably benign	Het
Slc4a3	A	G	1: 75,555,017	E876G	probably benign	Het
Srrm4	A	G	5: 116,449,584		probably benign	Het
Stx12	A	G	4: 132,863,229	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721	S333T	probably damaging	Het
Usp31	T	C	7: 121,679,530		probably benign	Het
Utp18	T	C	11: 93,868,419	R410G	probably damaging	Het
Vmn1r172	T	C	7: 23,660,038	I116T	probably damaging	Het
Vwa8	T	A	14: 78,934,601	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 101,866,276	F2655I	probably damaging	Het
Zfp423	A	T	8: 87,781,443	Y737N	probably damaging	Het
Zyx	C	A	6: 42,357,342	S500*	probably null	Het

Other mutations in Efhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Efhb	APN	17	53462453	missense	probably damaging	1.00
IGL00990:Efhb	APN	17	53462621	missense	possibly damaging	0.86
IGL02041:Efhb	APN	17	53426259	missense	probably damaging	1.00
IGL02247:Efhb	APN	17	53401624	missense	probably benign	0.00
IGL02637:Efhb	APN	17	53449552	missense	probably benign	0.26
IGL02704:Efhb	APN	17	53426269	missense	probably damaging	1.00
IGL03083:Efhb	APN	17	53399059	missense	probably damaging	1.00
IGL03221:Efhb	APN	17	53398986	missense	probably damaging	1.00
PIT4531001:Efhb	UTSW	17	53445775	missense	probably damaging	1.00
R0632:Efhb	UTSW	17	53413459	splice site	probably benign
R1234:Efhb	UTSW	17	53451587	nonsense	probably null
R1466:Efhb	UTSW	17	53437178	missense	probably damaging	0.99
R1466:Efhb	UTSW	17	53437178	missense	probably damaging	0.99
R1471:Efhb	UTSW	17	53399112	missense	possibly damaging	0.46
R1624:Efhb	UTSW	17	53426278	missense	probably damaging	1.00
R2019:Efhb	UTSW	17	53401477	missense	probably damaging	1.00
R2085:Efhb	UTSW	17	53426909	critical splice donor site	probably null
R2226:Efhb	UTSW	17	53462429	critical splice donor site	probably null
R2415:Efhb	UTSW	17	53463096	missense	probably benign	0.01
R3848:Efhb	UTSW	17	53426996	splice site	probably benign
R3858:Efhb	UTSW	17	53462780	missense	possibly damaging	0.61
R4581:Efhb	UTSW	17	53426275	missense	probably damaging	1.00
R4712:Efhb	UTSW	17	53451669	missense	probably damaging	1.00
R4731:Efhb	UTSW	17	53426244	missense	probably damaging	1.00
R4732:Efhb	UTSW	17	53426244	missense	probably damaging	1.00
R4733:Efhb	UTSW	17	53426244	missense	probably damaging	1.00
R5375:Efhb	UTSW	17	53401626	missense	possibly damaging	0.93
R5886:Efhb	UTSW	17	53451554	missense	probably benign	0.42
R6054:Efhb	UTSW	17	53398999	missense	possibly damaging	0.90
R6195:Efhb	UTSW	17	53462552	missense	possibly damaging	0.62
R6233:Efhb	UTSW	17	53462552	missense	possibly damaging	0.62
R6450:Efhb	UTSW	17	53452604	missense	possibly damaging	0.77
R6550:Efhb	UTSW	17	53421940	missense	probably benign	0.06
R6701:Efhb	UTSW	17	53399063	missense	probably benign	0.41
R6967:Efhb	UTSW	17	53463168	missense	probably benign	0.03
R7157:Efhb	UTSW	17	53400900	missense	probably damaging	1.00
R7441:Efhb	UTSW	17	53401521	missense	possibly damaging	0.78
R7694:Efhb	UTSW	17	53400808	missense	probably damaging	0.99
R8044:Efhb	UTSW	17	53399115	missense	probably benign	0.41
R8176:Efhb	UTSW	17	53400846	missense	probably damaging	1.00
R8309:Efhb	UTSW	17	53449535	missense	probably damaging	0.99
R8311:Efhb	UTSW	17	53413461	critical splice donor site	probably null
R8821:Efhb	UTSW	17	53400744	critical splice donor site	probably benign
R8882:Efhb	UTSW	17	53462684	missense	probably damaging	1.00
R9146:Efhb	UTSW	17	53462616	missense	probably benign	0.00
R9211:Efhb	UTSW	17	53449479	missense	probably damaging	0.96
R9760:Efhb	UTSW	17	53463270	missense	probably damaging	0.96
RF003:Efhb	UTSW	17	53400891	missense	probably damaging	1.00
RF012:Efhb	UTSW	17	53413517	missense	probably damaging	0.97
Z1177:Efhb	UTSW	17	53437126	missense	possibly damaging	0.94
Z1177:Efhb	UTSW	17	53437183	missense	probably benign	0.26

Posted On

2016-08-02