Incidental Mutation 'RF062:Efhd2'
| ID |
605434 |
| 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)
|
| Stock # |
RF062 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141585453-141602231 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCGCC to GCCGCCTCCGCC
at 141602066 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: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
GTGGCGGCGGCGGC |
G |
2: 25,162,549 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,971 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
CAG |
C |
7: 105,083,894 (GRCm39) |
|
probably null |
Het |
| Defb22 |
TGGCCT |
TGGCCTCTGCGGCAGAGCCGGCCT |
2: 152,327,745 (GRCm39) |
|
probably benign |
Het |
| Dennd2b |
GGGCAGCCCTCACTGA |
G |
7: 109,156,153 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GGTGGAAGTGGTGGAAGTGGTGGAAGT |
GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TTTT |
TTTTGTTT |
2: 82,814,707 (GRCm39) |
|
probably benign |
Het |
| Gm11060 |
CTGTGTG |
CTG |
2: 104,922,385 (GRCm39) |
|
probably null |
Het |
| Gm5591 |
GC |
G |
7: 38,221,759 (GRCm39) |
|
probably null |
Het |
| Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
ACCACCGCC |
ACCACCGCCACCGCC |
11: 99,280,090 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,028 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAAGCTGAGA |
CAAGCTGAGATACACGTTAGCAGTGAGGAGGAAGCTGAGA |
2: 119,458,082 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,458,091 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,694,345 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,025 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8 |
ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,898 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGCCCAGGCCCAGGCCCAGG |
CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG |
6: 125,013,429 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
Incidental Mutation