Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Efhd2'

603874

Institutional Source

Beutler Lab

Gene Symbol

Efhd2

Ensembl Gene

ENSMUSG00000040659

Gene Name

EF hand domain containing 2

Synonyms

swiprosin 1, D4Wsu27e, 2600015J22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

RF021 (G1)

Quality Score

214.46

Status

Not validated

Chromosome

Chromosomal Location

141858142-141874920 bp(-) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCC to GCCGCCCCC at 141874773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036854]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036854

SMART Domains

Protein: ENSMUSP00000044502
Gene: ENSMUSG00000040659

Domain	Start	End	E-Value	Type
low complexity region	32	47	N/A	INTRINSIC
EFh	96	124	1.44e-2	SMART
EFh	132	160	2.71e0	SMART
coiled coil region	199	237	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced germinal center responses and humoral type 2 immunity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly damaging	Het

Other mutations in Efhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Efhd2	APN	4	141859865	missense	probably benign	0.05
IGL01710:Efhd2	APN	4	141860561	missense	probably damaging	1.00
IGL01869:Efhd2	APN	4	141874602	missense	probably damaging	1.00
FR4589:Efhd2	UTSW	4	141874764	small insertion	probably benign
R0109:Efhd2	UTSW	4	141874567	missense	probably benign	0.00
R0711:Efhd2	UTSW	4	141859872	missense	probably damaging	1.00
R6861:Efhd2	UTSW	4	141859881	splice site	probably null
R7765:Efhd2	UTSW	4	141874575	missense	probably damaging	0.97
R8275:Efhd2	UTSW	4	141874762	missense	probably benign	0.31
R8504:Efhd2	UTSW	4	141859875	nonsense	probably null
RF008:Efhd2	UTSW	4	141874758	small insertion	probably benign
RF010:Efhd2	UTSW	4	141874764	small insertion	probably benign
RF012:Efhd2	UTSW	4	141874768	small insertion	probably benign
RF015:Efhd2	UTSW	4	141874756	small insertion	probably benign
RF016:Efhd2	UTSW	4	141874756	small insertion	probably benign
RF023:Efhd2	UTSW	4	141874762	small insertion	probably benign
RF024:Efhd2	UTSW	4	141874762	small insertion	probably benign
RF025:Efhd2	UTSW	4	141874771	small insertion	probably benign
RF032:Efhd2	UTSW	4	141874772	small insertion	probably benign
RF044:Efhd2	UTSW	4	141874768	small insertion	probably benign
RF056:Efhd2	UTSW	4	141874767	small insertion	probably benign
RF057:Efhd2	UTSW	4	141874769	small insertion	probably benign
RF062:Efhd2	UTSW	4	141874755	small insertion	probably benign
RF062:Efhd2	UTSW	4	141874774	small insertion	probably benign
RF064:Efhd2	UTSW	4	141874755	small insertion	probably benign
Z1177:Efhd2	UTSW	4	141874683	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTGAACTCGGTGTAGGG -3'
(R):5'- TCACCCAGAGGTCATCAGAG -3'

Sequencing Primer
(F):5'- ACTCGGTGTAGGGGTTGAAGAC -3'
(R):5'- TAAGTCCCACCTTCAGGGC -3'

Posted On

2019-12-04