Mutagenetix > Incidental Mutation

Incidental Mutation 'R3858:Efhb'

276264

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

040786-MU

Accession Numbers

Essential gene?

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

Stock #

R3858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53769808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 167 (L167S)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024725
AA Change: L167S

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: L167S

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

0.1038

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,863,581 (GRCm39)	S179T	probably benign	Het
Ahnak	A	G	19: 8,988,223 (GRCm39)	E3169G	possibly damaging	Het
Ccdc82	G	A	9: 13,251,704 (GRCm39)		probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Cd2ap	G	A	17: 43,127,463 (GRCm39)	Q377*	probably null	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irs4	T	C	X: 140,507,059 (GRCm39)	E379G	probably damaging	Het
Kcnmb2	T	C	3: 32,252,450 (GRCm39)	V217A	probably damaging	Het
Megf10	T	C	18: 57,408,907 (GRCm39)		probably benign	Het
Mib1	T	A	18: 10,798,409 (GRCm39)	C757S	possibly damaging	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Or12d13	A	T	17: 37,648,117 (GRCm39)	L2*	probably null	Het
Or5b119	T	A	19: 13,457,494 (GRCm39)	I23F	possibly damaging	Het
Pirb	T	C	7: 3,720,662 (GRCm39)	K279E	possibly damaging	Het
Pmp22	T	C	11: 63,025,301 (GRCm39)	S45P	probably benign	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Reck	A	G	4: 43,930,261 (GRCm39)	T612A	probably benign	Het
Rtn4rl2	A	G	2: 84,710,730 (GRCm39)		probably null	Het
Sis	A	G	3: 72,835,985 (GRCm39)	I868T	probably damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Tle4	G	A	19: 14,445,577 (GRCm39)	T223I	probably benign	Het
Tor3a	T	A	1: 156,497,124 (GRCm39)	L140F	probably damaging	Het
Vcf2	T	C	X: 149,203,357 (GRCm39)	Q39R	probably benign	Het
Vmn2r86	A	G	10: 130,291,594 (GRCm39)	M57T	probably benign	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	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
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'- CAAATGGACATTCAGAAGGTTCTC -3'
(R):5'- GGACTTCACAAAGGCTCTGC -3'

Sequencing Primer
(F):5'- CCTATTAGAGGCTCTGTATTCTTGGC -3'
(R):5'- CCTTCCAGGGATCAAAACCTCTGG -3'

Posted On

2015-04-06