Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:Efhd2'

603462

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: 0.132) question?

Stock #

RF015 (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 CCGCCGACGCCG at 141602067 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: 99.5%
20x: 99.0%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,824 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,822 (GRCm39)		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,819 (GRCm39)		probably benign	Het
Abcb4	GAA	G	5: 8,946,594 (GRCm39)		probably null	Het
Agap1	T	A	1: 89,561,985 (GRCm39)	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Arid1a	AGGC	A	4: 133,480,142 (GRCm39)		probably benign	Het
Bco2	A	G	9: 50,457,297 (GRCm39)	F82L	probably damaging	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,129,695 (GRCm39)		probably benign	Het
Capn9	T	C	8: 125,345,221 (GRCm39)	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 119,963,794 (GRCm39)		probably benign	Het
Cfap251	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,392,305 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,679 (GRCm39)		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 86,922,491 (GRCm39)		probably benign	Het
Cyria	T	A	12: 12,419,939 (GRCm39)	S294R	probably benign	Het
Dnah10	G	A	5: 124,895,141 (GRCm39)	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,821,420 (GRCm39)		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)		probably null	Het
Gatad1	A	T	5: 3,697,523 (GRCm39)	C33S	possibly damaging	Het
H2-DMb1	A	G	17: 34,374,476 (GRCm39)	Y42C	probably damaging	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGCGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,447 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Het
Mucl2	T	A	15: 103,927,696 (GRCm39)	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,924,718 (GRCm39)	V1749A	probably benign	Het
Or52e5	A	G	7: 104,719,255 (GRCm39)	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,854,855 (GRCm39)	N417Y	probably damaging	Het
Pclo	G	T	5: 14,565,283 (GRCm39)	L16F	unknown	Het
Pik3c2g	T	A	6: 139,700,497 (GRCm39)	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf41	C	T	10: 128,271,279 (GRCm39)	A63V	probably benign	Het
Sirt1	C	T	10: 63,172,795 (GRCm39)	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Skor2	A	G	18: 76,948,483 (GRCm39)	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,857,315 (GRCm39)		probably benign	Het
Smco2	T	TTCG	6: 146,754,161 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,061,846 (GRCm39)	I172T	probably damaging	Het
Syne1	T	C	10: 5,252,248 (GRCm39)	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,966,656 (GRCm39)		probably benign	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,685,413 (GRCm39)	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,000,406 (GRCm39)		probably benign	Het
Utp18	A	G	11: 93,776,287 (GRCm39)	L66P	probably damaging	Het
Wnt7a	C	T	6: 91,371,405 (GRCm39)	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,013,444 (GRCm39)		probably benign	Het
Zgrf1	A	G	3: 127,356,882 (GRCm39)	I703V	probably benign	Het
Zpld2	T	C	4: 133,920,338 (GRCm39)	H609R	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
RF016:Efhd2	UTSW	4	141,602,067 (GRCm39)	small insertion	probably benign
RF021:Efhd2	UTSW	4	141,602,084 (GRCm39)	small insertion	probably benign
RF023:Efhd2	UTSW	4	141,602,073 (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'- GATCTGCTTCCTGGAGAACTCC -3'
(R):5'- TCACCCAGAGGTCATCAGAG -3'

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

Posted On

2019-12-04