Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:Efhd2'

603985

Institutional Source

Beutler Lab

Gene Symbol

Efhd2

Ensembl Gene

ENSMUSG00000040659

Gene Name

EF hand domain containing 2

Synonyms

D4Wsu27e, 2600015J22Rik, swiprosin 1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

RF023 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

141585453-141602231 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CCGCCG to CCGCCGGCGCCG at 141602073 bp (GRCm39)

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: 99.4%
20x: 98.7%

Validation Efficiency

96% (24/25)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,818 (GRCm39)		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,841 (GRCm39)		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,256,407 (GRCm39)	S1172T	probably damaging	Het
Bltp1	T	TTATTATTATTATTAG	3: 37,104,909 (GRCm39)		probably benign	Het
Cacna2d4	G	A	6: 119,245,191 (GRCm39)	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camk2b	T	C	11: 5,922,301 (GRCm39)	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,511,018 (GRCm39)		probably benign	Het
Cdhr3	G	T	12: 33,110,348 (GRCm39)	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,176,328 (GRCm39)	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,803,620 (GRCm39)	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,218,834 (GRCm39)			Het
Dnah11	T	A	12: 117,918,585 (GRCm39)	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)		probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,378 (GRCm39)		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,522,689 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,660 (GRCm39)		probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Herc1	G	C	9: 66,365,616 (GRCm39)	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644 (GRCm39)		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,179,969 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,019,867 (GRCm39)		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,020,007 (GRCm39)		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,676,217 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,587 (GRCm39)		probably benign	Het
Lrch1	TGGTGGTG	T	14: 75,185,006 (GRCm39)		probably null	Het
Mgam	C	T	6: 40,657,642 (GRCm39)	T999I	probably benign	Het
Mrtfa	T	C	15: 80,900,057 (GRCm39)	E740G	probably damaging	Het
Nek1	A	G	8: 61,525,779 (GRCm39)		probably null	Het
Phactr2	T	A	10: 13,121,178 (GRCm39)	Q503H	probably benign	Het
Ptprd	T	C	4: 76,046,802 (GRCm39)	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,508,076 (GRCm39)	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,684,952 (GRCm39)		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,694,349 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rnpc3	A	T	3: 113,413,723 (GRCm39)	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 85,682,795 (GRCm39)		probably benign	Het
Sec31b	G	T	19: 44,524,226 (GRCm39)	A138D	probably damaging	Het
Syne1	A	T	10: 5,205,482 (GRCm39)	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,593,063 (GRCm39)		probably benign	Het
Tmtc3	T	C	10: 100,313,728 (GRCm39)	H48R	probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,673,173 (GRCm39)		probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,673,180 (GRCm39)		probably benign	Het
Vsig2	T	A	9: 37,450,559 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,300,255 (GRCm39)	T152A	probably benign	Het

Other mutations in Efhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Efhd2	APN	4	141,587,176 (GRCm39)	missense	probably benign	0.05
IGL01710:Efhd2	APN	4	141,587,872 (GRCm39)	missense	probably damaging	1.00
IGL01869:Efhd2	APN	4	141,601,913 (GRCm39)	missense	probably damaging	1.00
FR4589:Efhd2	UTSW	4	141,602,075 (GRCm39)	small insertion	probably benign
R0109:Efhd2	UTSW	4	141,601,878 (GRCm39)	missense	probably benign	0.00
R0711:Efhd2	UTSW	4	141,587,183 (GRCm39)	missense	probably damaging	1.00
R6861:Efhd2	UTSW	4	141,587,192 (GRCm39)	splice site	probably null
R7765:Efhd2	UTSW	4	141,601,886 (GRCm39)	missense	probably damaging	0.97
R8275:Efhd2	UTSW	4	141,602,073 (GRCm39)	missense	probably benign	0.31
R8504:Efhd2	UTSW	4	141,587,186 (GRCm39)	nonsense	probably null
RF008:Efhd2	UTSW	4	141,602,069 (GRCm39)	small insertion	probably benign
RF010:Efhd2	UTSW	4	141,602,075 (GRCm39)	small insertion	probably benign
RF012:Efhd2	UTSW	4	141,602,079 (GRCm39)	small insertion	probably benign
RF015:Efhd2	UTSW	4	141,602,067 (GRCm39)	small insertion	probably benign
RF016:Efhd2	UTSW	4	141,602,067 (GRCm39)	small insertion	probably benign
RF021:Efhd2	UTSW	4	141,602,084 (GRCm39)	small insertion	probably benign
RF024:Efhd2	UTSW	4	141,602,073 (GRCm39)	small insertion	probably benign
RF025:Efhd2	UTSW	4	141,602,082 (GRCm39)	small insertion	probably benign
RF032:Efhd2	UTSW	4	141,602,083 (GRCm39)	small insertion	probably benign
RF044:Efhd2	UTSW	4	141,602,079 (GRCm39)	small insertion	probably benign
RF056:Efhd2	UTSW	4	141,602,078 (GRCm39)	small insertion	probably benign
RF057:Efhd2	UTSW	4	141,602,080 (GRCm39)	small insertion	probably benign
RF062:Efhd2	UTSW	4	141,602,085 (GRCm39)	small insertion	probably benign
RF062:Efhd2	UTSW	4	141,602,066 (GRCm39)	small insertion	probably benign
RF064:Efhd2	UTSW	4	141,602,066 (GRCm39)	small insertion	probably benign
Z1177:Efhd2	UTSW	4	141,601,994 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCTGCTTCCTGGAGAACTC -3'
(R):5'- ACCCAGAGGTCATCAGAGAG -3'

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

Posted On

2019-12-04