Mutagenetix > Incidental Mutation

Incidental Mutation 'R6450:Efhb'

519381

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

044586-MU

Accession Numbers

Essential gene?

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

Stock #

R6450 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53759632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 290 (V290A)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024725
AA Change: V290A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: V290A

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: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.1%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	G	7: 119,815,449 (GRCm39)	N232K	probably benign	Het
Acaca	T	A	11: 84,171,294 (GRCm39)	V5E	probably damaging	Het
Adam18	A	T	8: 25,119,691 (GRCm39)	D529E	probably benign	Het
Adgrb3	T	C	1: 25,459,683 (GRCm39)	T798A	probably benign	Het
Alyref	T	C	11: 120,486,872 (GRCm39)	T130A	probably benign	Het
Arhgap24	A	G	5: 103,044,990 (GRCm39)	S591G	probably benign	Het
Carmil1	C	T	13: 24,220,547 (GRCm39)	G655E	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,518 (GRCm39)		probably null	Het
Clec12a	T	A	6: 129,330,366 (GRCm39)	L48H	probably damaging	Het
Coq2	C	A	5: 100,809,770 (GRCm39)		probably benign	Het
Crb2	C	A	2: 37,683,838 (GRCm39)	F1113L	possibly damaging	Het
Ctla4	A	T	1: 60,951,872 (GRCm39)	M134L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dync2i1	A	T	12: 116,210,347 (GRCm39)	Y314*	probably null	Het
Epha8	T	C	4: 136,659,210 (GRCm39)	N843S	probably damaging	Het
Eva1a	A	T	6: 82,069,086 (GRCm39)	I138F	probably damaging	Het
Fat2	T	A	11: 55,180,136 (GRCm39)	I1402F	probably damaging	Het
Fat3	A	T	9: 15,910,466 (GRCm39)	H1845Q	possibly damaging	Het
Gimap8	T	A	6: 48,633,385 (GRCm39)	F401L	probably benign	Het
Gpr162	C	T	6: 124,838,152 (GRCm39)	R166Q	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hdac4	G	A	1: 91,912,433 (GRCm39)	P348S	possibly damaging	Het
Hmcn2	T	C	2: 31,251,812 (GRCm39)	V849A	probably benign	Het
Inpp5b	T	A	4: 124,686,045 (GRCm39)	N696K	probably damaging	Het
Kdm5d	G	T	Y: 927,056 (GRCm39)	R598L	probably damaging	Homo
Kidins220	T	C	12: 25,107,190 (GRCm39)	S1548P	probably benign	Het
Kif2b	C	A	11: 91,467,192 (GRCm39)	V364L	probably damaging	Het
Kitl	A	G	10: 99,923,256 (GRCm39)	M1V	probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Map6	T	C	7: 98,917,245 (GRCm39)	I6T	probably damaging	Het
Mastl	T	C	2: 23,010,941 (GRCm39)	T768A	probably damaging	Het
Mettl16	T	C	11: 74,696,164 (GRCm39)	V335A	probably benign	Het
Mpl	T	C	4: 118,305,897 (GRCm39)		probably null	Het
Myo5c	C	T	9: 75,193,860 (GRCm39)	T1205I	probably benign	Het
Nav2	C	A	7: 49,244,114 (GRCm39)	L2114I	probably damaging	Het
Neb	T	A	2: 52,084,481 (GRCm39)	K5330*	probably null	Het
Nfe2l1	C	T	11: 96,718,161 (GRCm39)	E125K	possibly damaging	Het
Onecut3	A	G	10: 80,331,922 (GRCm39)	K361E	probably damaging	Het
Or4f47	T	A	2: 111,972,725 (GRCm39)	L145*	probably null	Het
Osbpl6	A	G	2: 76,395,174 (GRCm39)	N370S	possibly damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
P2rx4	A	G	5: 122,865,304 (GRCm39)	T310A	possibly damaging	Het
Pcdha11	G	T	18: 37,146,215 (GRCm39)	D769Y	probably damaging	Het
Pcgf6	C	T	19: 47,037,527 (GRCm39)	R124H	probably benign	Het
Pibf1	T	A	14: 99,374,646 (GRCm39)	Y362N	probably damaging	Het
Ppm1g	T	C	5: 31,360,468 (GRCm39)	E422G	probably benign	Het
Prmt8	T	C	6: 127,709,606 (GRCm39)	I85V	possibly damaging	Het
Prss27	A	T	17: 24,263,988 (GRCm39)	K225*	probably null	Het
Rai1	A	T	11: 60,077,429 (GRCm39)	T498S	probably benign	Het
Sbf2	C	A	7: 110,062,070 (GRCm39)	G23V	probably damaging	Het
Sdha	C	T	13: 74,482,412 (GRCm39)		probably null	Het
Sgo2a	C	T	1: 58,042,092 (GRCm39)	Q140*	probably null	Het
Sh3rf3	A	G	10: 58,819,966 (GRCm39)	D259G	probably damaging	Het
Slc27a3	C	A	3: 90,292,777 (GRCm39)	D631Y	probably damaging	Het
Slc7a10	T	C	7: 34,886,015 (GRCm39)	S37P	possibly damaging	Het
Slco6d1	A	G	1: 98,349,192 (GRCm39)	T88A	probably benign	Het
Smad4	A	T	18: 73,810,817 (GRCm39)	S56T	possibly damaging	Het
Smarcd1	A	G	15: 99,605,766 (GRCm39)	I346V	possibly damaging	Het
Spast	C	T	17: 74,675,835 (GRCm39)	P260S	probably benign	Het
Spata31f1e	C	A	4: 42,792,489 (GRCm39)	G548W	probably damaging	Het
Sprr2i	A	T	3: 92,316,017 (GRCm39)		probably benign	Het
Sptbn5	A	G	2: 119,877,616 (GRCm39)		probably benign	Het
Taar9	A	T	10: 23,985,138 (GRCm39)	Y99N	probably damaging	Het
Trappc10	A	T	10: 78,045,284 (GRCm39)	M468K	possibly damaging	Het
Trim66	T	C	7: 109,059,945 (GRCm39)	R814G	probably benign	Het
Tspan31	A	G	10: 126,904,227 (GRCm39)	C157R	probably damaging	Het
Vmn2r90	A	G	17: 17,953,498 (GRCm39)	D554G	possibly damaging	Het
Vmn2r91	A	T	17: 18,305,527 (GRCm39)	D70V	probably damaging	Het
Wdfy4	C	T	14: 32,830,649 (GRCm39)	G928R	probably damaging	Het
Zfp346	G	T	13: 55,261,517 (GRCm39)	K102N	probably damaging	Het
Zmym4	G	A	4: 126,789,099 (GRCm39)	P1002S	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
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
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'- TCCAGGTTACAAGTATCCCATAATTCC -3'
(R):5'- TAAGCACTGCGTAATGTCACAG -3'

Sequencing Primer
(F):5'- ATGAATATGGATCAATAGATAACGCC -3'
(R):5'- TCAGAAATCGGCCTGACTCTG -3'

Posted On

2018-05-24