Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Efhb'

343710

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

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

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53733303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 523 (A523S)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024725
AA Change: A523S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: A523S

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,828 (GRCm39)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,754,146 (GRCm39)	D20G	possibly damaging	Het
Abca7	A	G	10: 79,842,402 (GRCm39)	D1112G	probably benign	Het
Actc1	G	T	2: 113,880,089 (GRCm39)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,279,595 (GRCm39)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,430,979 (GRCm39)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,771,205 (GRCm39)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,587,121 (GRCm39)	I991T	probably damaging	Het
Cacna1s	T	A	1: 135,998,708 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,359,515 (GRCm39)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,869 (GRCm39)	I110N	probably damaging	Het
Cenpe	A	G	3: 134,952,761 (GRCm39)	K1484E	probably benign	Het
Cep68	A	G	11: 20,189,333 (GRCm39)	S560P	probably benign	Het
Cog3	G	T	14: 75,970,391 (GRCm39)	T352K	probably benign	Het
Cox6a2	A	G	7: 127,805,152 (GRCm39)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,201,282 (GRCm39)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,262,881 (GRCm39)	V689A	probably benign	Het
Ddx60	A	T	8: 62,476,295 (GRCm39)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 148,918,482 (GRCm39)		silent	Het
Dlgap2	T	C	8: 14,896,679 (GRCm39)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,170,440 (GRCm39)	D502E	probably damaging	Het
Epha8	C	T	4: 136,660,775 (GRCm39)	V648M	probably damaging	Het
Fanca	C	T	8: 124,001,077 (GRCm39)		probably null	Het
Fbxw7	G	A	3: 84,874,852 (GRCm39)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,512,075 (GRCm39)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,273,880 (GRCm39)	E112G	probably damaging	Het
Gm7535	T	C	17: 18,131,345 (GRCm39)		probably benign	Het
Irf2bp2	T	A	8: 127,317,994 (GRCm39)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,622,925 (GRCm39)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,275,576 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,198,912 (GRCm39)		probably null	Het
Mafa	G	T	15: 75,619,585 (GRCm39)	P63T	unknown	Het
Mars2	T	A	1: 55,277,021 (GRCm39)	L208H	probably damaging	Het
Myom2	A	G	8: 15,156,459 (GRCm39)	I769V	probably benign	Het
Nyap1	A	G	5: 137,734,284 (GRCm39)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,424,572 (GRCm39)	M200K	probably benign	Het
Osmr	C	T	15: 6,872,375 (GRCm39)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,809,934 (GRCm39)	T796A	probably benign	Het
Pclo	T	C	5: 14,725,519 (GRCm39)	V1459A	unknown	Het
Phactr3	A	C	2: 177,924,965 (GRCm39)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,587,383 (GRCm39)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,407,810 (GRCm39)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,160,986 (GRCm39)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 3,993,375 (GRCm39)		probably null	Het
Six1	T	G	12: 73,092,708 (GRCm39)	T165P	probably benign	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,359,740 (GRCm39)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,312,284 (GRCm39)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm39)		probably null	Het
Spryd3	A	G	15: 102,038,799 (GRCm39)	S141P	probably damaging	Het
Src	A	T	2: 157,304,958 (GRCm39)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stc2	A	G	11: 31,315,326 (GRCm39)		probably null	Het
Taf6l	T	C	19: 8,755,572 (GRCm39)	D261G	probably damaging	Het
Tal1	T	G	4: 114,921,919 (GRCm39)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,124 (GRCm39)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,396,655 (GRCm39)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm39)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,946,380 (GRCm39)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,556,639 (GRCm39)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Urb1	T	C	16: 90,585,034 (GRCm39)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,949,570 (GRCm39)	T426S	probably benign	Het
Yipf4	T	C	17: 74,806,089 (GRCm39)	Y243H	probably benign	Het
Zfp574	T	A	7: 24,780,738 (GRCm39)	C587S	probably damaging	Het
Zfp93	C	A	7: 23,975,093 (GRCm39)	H359Q	probably damaging	Het
Znfx1	T	C	2: 166,892,236 (GRCm39)	E660G	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
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
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
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'- TAATACAGGCTAAAACATGGTGGTG -3'
(R):5'- GTGGTCTGCATGGAAAACCG -3'

Sequencing Primer
(F):5'- GCTAAAACATGGTGGTGGTTAAG -3'
(R):5'- CCGTCAGTCACTGTTAATGCAAGTG -3'

Posted On

2015-09-24