Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Efhb'

174930

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

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

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53733306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 522 (I522F)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024725
AA Change: I522F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: I522F

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

0.1031

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,496 (GRCm39)	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,276,031 (GRCm39)	H81L	probably damaging	Het
Acbd4	A	G	11: 102,994,785 (GRCm39)	T48A	probably damaging	Het
Acp3	T	A	9: 104,197,200 (GRCm39)	E146D	probably benign	Het
Acsm1	T	A	7: 119,251,796 (GRCm39)	I307N	probably damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agl	T	C	3: 116,580,895 (GRCm39)	T356A	probably benign	Het
Ago1	A	G	4: 126,357,534 (GRCm39)	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,496,363 (GRCm39)	Y75N	probably benign	Het
Anxa2	T	A	9: 69,386,990 (GRCm39)	S92T	probably benign	Het
Arid4b	T	C	13: 14,358,979 (GRCm39)	S585P	probably damaging	Het
Arl4d	T	C	11: 101,557,842 (GRCm39)	S123P	possibly damaging	Het
Atad2	A	T	15: 57,963,415 (GRCm39)	D1067E	probably damaging	Het
Brap	C	A	5: 121,820,922 (GRCm39)	T403K	possibly damaging	Het
Brwd1	A	T	16: 95,809,344 (GRCm39)	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,171,087 (GRCm39)	T464A	probably benign	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdh11	T	C	8: 103,391,233 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,725,163 (GRCm39)	Y691F	probably benign	Het
Clhc1	A	T	11: 29,519,287 (GRCm39)	I365F	possibly damaging	Het
Col11a1	A	G	3: 113,951,804 (GRCm39)	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375 (GRCm39)	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,795,754 (GRCm39)	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,327,225 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,618,918 (GRCm39)	I1661N	probably damaging	Het
Dpysl4	A	C	7: 138,669,469 (GRCm39)	D49A	probably damaging	Het
Epha4	T	C	1: 77,376,329 (GRCm39)	T517A	probably damaging	Het
Fasn	A	G	11: 120,703,937 (GRCm39)	S1466P	probably damaging	Het
Fgd6	A	T	10: 93,973,298 (GRCm39)	D1253V	probably benign	Het
Fjx1	G	A	2: 102,281,509 (GRCm39)	A142V	probably benign	Het
Foxb1	T	C	9: 69,666,598 (GRCm39)	T311A	probably benign	Het
Fpgs	A	G	2: 32,581,200 (GRCm39)		probably null	Het
Gm10024	A	G	10: 77,547,606 (GRCm39)		probably null	Het
Gnat3	A	T	5: 18,208,841 (GRCm39)	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,362,543 (GRCm39)	F875I	probably benign	Het
Kif13b	A	G	14: 64,976,068 (GRCm39)	E461G	probably damaging	Het
Kif23	A	T	9: 61,832,982 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,896,540 (GRCm39)	R134Q	possibly damaging	Het
Krt33a	A	T	11: 99,905,072 (GRCm39)	Y145N	probably damaging	Het
Lama5	A	G	2: 179,848,551 (GRCm39)	V313A	probably benign	Het
Lamb1	T	C	12: 31,328,651 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mtor	C	T	4: 148,632,133 (GRCm39)	L2336F	probably damaging	Het
Naglu	T	C	11: 100,967,351 (GRCm39)	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,580,655 (GRCm39)	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,752,184 (GRCm39)	T733I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,573 (GRCm39)	E558G	probably damaging	Het
Nsun4	A	T	4: 115,891,397 (GRCm39)	N327K	probably benign	Het
Or11g27	A	G	14: 50,771,100 (GRCm39)	Y77C	probably damaging	Het
Or1x2	T	C	11: 50,917,952 (GRCm39)	V41A	probably damaging	Het
Or2m13	T	A	16: 19,226,454 (GRCm39)	Y104F	probably benign	Het
Or4f6	T	A	2: 111,838,877 (GRCm39)	Y218F	probably damaging	Het
Or6b13	T	C	7: 139,781,864 (GRCm39)	N273S	probably damaging	Het
Pdia2	T	A	17: 26,415,495 (GRCm39)	I441F	probably damaging	Het
Phyh	T	C	2: 4,930,494 (GRCm39)	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661 (GRCm39)	L146P	probably damaging	Het
Plce1	A	G	19: 38,713,219 (GRCm39)	D1191G	probably damaging	Het
Plrg1	T	C	3: 82,975,301 (GRCm39)		probably benign	Het
Plrg1	G	A	3: 82,977,051 (GRCm39)	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,515,669 (GRCm39)	L614S	probably damaging	Het
Pramel16	A	T	4: 143,676,400 (GRCm39)	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,663,027 (GRCm39)	V193A	probably damaging	Het
Prss16	T	A	13: 22,187,483 (GRCm39)	E47V	probably benign	Het
Ptpru	G	A	4: 131,499,861 (GRCm39)	T1261I	probably damaging	Het
Pycard	A	G	7: 127,591,970 (GRCm39)	S124P	possibly damaging	Het
Riok1	C	A	13: 38,221,487 (GRCm39)	D17E	probably damaging	Het
Scin	T	A	12: 40,177,929 (GRCm39)	Y102F	probably benign	Het
Scmh1	A	G	4: 120,386,425 (GRCm39)	H655R	probably damaging	Het
Scyl2	A	T	10: 89,476,598 (GRCm39)	N842K	probably benign	Het
Sec23b	T	A	2: 144,409,049 (GRCm39)	M211K	probably benign	Het
Serpina3i	A	C	12: 104,234,897 (GRCm39)	*409C	probably null	Het
Sgk2	G	A	2: 162,839,779 (GRCm39)	R129H	probably benign	Het
Slc39a13	A	G	2: 90,898,871 (GRCm39)	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,029,631 (GRCm39)	D73G	probably benign	Het
Spata18	A	C	5: 73,826,888 (GRCm39)	T276P	probably damaging	Het
Srgap1	T	G	10: 121,691,278 (GRCm39)	M319L	probably benign	Het
Stx7	T	A	10: 24,060,903 (GRCm39)	V210E	probably damaging	Het
Tjp2	T	A	19: 24,108,776 (GRCm39)	H112L	probably benign	Het
Tuba8	A	T	6: 121,197,385 (GRCm39)	I16F	probably damaging	Het
Ube3c	G	A	5: 29,851,617 (GRCm39)	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,417,116 (GRCm39)	V14E	probably benign	Het
Vmn2r79	A	T	7: 86,653,247 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,343,018 (GRCm39)	T466A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCTATCCAAGGGGATTTTAGGGGC -3'
(R):5'- TCTGCATGGAAAACCGTCAGTCAC -3'

Sequencing Primer
(F):5'- TCTAATACAGGCTAAAACATGGTGG -3'
(R):5'- CCGTCAGTCACTGTTAATGCAAG -3'

Posted On

2014-04-24