Incidental Mutation 'RF056:Efhd2'
| ID |
605268 |
| 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 # |
RF056 (G1)
|
| Quality Score |
217.503 |
|
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 141602078 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: 99.3%
- 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Begain |
CG |
CGCCGCAG |
12: 108,999,362 (GRCm39) |
|
probably benign |
Het |
| Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
| Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CCT |
CCTACT |
17: 47,047,670 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
CACACTGCCCAGGGATGTGACAGAGACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,463 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
T |
TAGAGGTGGAAGTGGTGGAAGTGGTGGA |
7: 30,466,632 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
CTGAGGGAGGA |
CTGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTATGAGGGAGGA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,761 (GRCm39) |
|
probably null |
Het |
| Gm16494 |
TTT |
TTTT |
17: 47,327,841 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CCACAGCTGCAG |
CCACAGCTGCAGCAGCAGCACAGCTGCAG |
4: 59,610,647 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nelfe |
A |
AGCGGGATCGAGACAGAGACAAAGG |
17: 35,073,047 (GRCm39) |
|
probably benign |
Het |
| Ngfr |
CAGG |
C |
11: 95,478,337 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTTAGCAGTGAGGAGCAAGCTGAGA |
GTTAGCAGTGAGGAGCAAGCTGAGATACACTTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,067 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
TACACGTTAGCAGTGAGGAGCAAGCTGAGACACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
2: 119,458,062 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGGAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
TTGCACC |
TTGCACCTGCACC |
4: 134,006,813 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
C |
CCACCAA |
4: 134,006,827 (GRCm39) |
|
probably benign |
Het |
| Pqbp1 |
ACACACACACACC |
A |
X: 7,764,998 (GRCm39) |
|
probably benign |
Het |
| Rbm28 |
AGCAACACCTCTCACCTGGGGCAGAAGCA |
AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA |
6: 29,157,052 (GRCm39) |
|
probably null |
Het |
| Rnf126 |
GAGGAC |
G |
10: 79,594,976 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
CAGAGCCTGTGGTGCTCGCAGG |
C |
3: 95,673,631 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
CGG |
CGGAAGAGG |
8: 85,682,799 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGCCAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
| Sbp |
ACAAAGATGCTGACA |
ACAAAGATGCTGACAGCAAAGATGCTGACA |
17: 24,164,340 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,475 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,500 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
CCTGTG |
CCTGTGGCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
| Taf1a |
CACGTTGAAGCTGTAGGTAAGTGAGACAGCGTTGAAGCTGTAGGTAAGTGAGACA |
CGCGTTGAAGCTGTAGGTAAGTGAGACA |
1: 183,172,369 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCCTTGGC |
TCCCCTTGGCTGCTGAGATGGGCACTTTCCTAGAGACCCCCTTGGC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
CCAG |
CCAGCAG |
6: 115,537,025 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCAAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,359 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGC |
CCCAGGCCCAGGGCCAGGC |
6: 125,013,453 (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 |
|
|
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'- GGAGAACTCCTTGAACTCGG -3'
(R):5'- ACCCAGAGGTCATCAGAGAG -3'
Sequencing Primer
(F):5'- AGAACTCCTTGAACTCGGTGTAG -3'
(R):5'- TAAGTCCCACCTTCAGGGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation