Incidental Mutation 'RF012:Efhb'
| ID |
603299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhb
|
| Ensembl Gene |
ENSMUSG00000023931 |
| Gene Name |
EF hand domain family, member B |
| Synonyms |
4921525D22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
RF012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53720545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 647
(N647D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
| AlphaFold |
Q8CDU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024725
AA Change: N647D
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: N647D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
565 |
574 |
N/A |
INTRINSIC |
|
EFh
|
585 |
613 |
2.14e-1 |
SMART |
|
EFh
|
621 |
649 |
1.98e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
89% (56/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,453,552 (GRCm39) |
L123Q |
probably damaging |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,255 (GRCm39) |
|
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,645,125 (GRCm39) |
N242I |
probably damaging |
Het |
| Ankrd7 |
G |
C |
6: 18,869,274 (GRCm39) |
E194Q |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,868 (GRCm39) |
F517L |
possibly damaging |
Het |
| Arhgef4 |
CAAA |
C |
1: 34,763,565 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
AGACGACGA |
AGACGA |
4: 133,480,131 (GRCm39) |
|
probably benign |
Het |
| Atp2c2 |
G |
T |
8: 120,472,253 (GRCm39) |
A436S |
possibly damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,782 (GRCm39) |
V107E |
probably benign |
Het |
| Begain |
CGCCGC |
CGCCGCAGCCGC |
12: 108,999,353 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,112,909 (GRCm39) |
T122S |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,327,697 (GRCm39) |
S501G |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,738,282 (GRCm39) |
L1079R |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,542,336 (GRCm39) |
K346E |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,908,694 (GRCm39) |
N325D |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,375 (GRCm39) |
E2881G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnai2 |
A |
T |
11: 114,641,242 (GRCm39) |
I356F |
probably damaging |
Het |
| Dusp4 |
ACGGCGGCGGCGGC |
ACGGCGGCGGC |
8: 35,274,953 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CCG |
CCGACGGCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,485,872 (GRCm39) |
Y318H |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,847 (GRCm39) |
H80R |
probably damaging |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,626 (GRCm39) |
|
probably benign |
Het |
| Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,901,902 (GRCm39) |
H538Q |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,122,214 (GRCm39) |
H229R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,183,447 (GRCm39) |
V41A |
probably damaging |
Het |
| Krtap28-10 |
GCCACA |
GCCACACCCACA |
1: 83,019,857 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,486,498 (GRCm39) |
S141R |
probably damaging |
Het |
| Medag |
G |
T |
5: 149,335,459 (GRCm39) |
C6F |
probably benign |
Het |
| Nefh |
GGCCTCT |
GGCCTCTCCTGGGGACTTTGCCTCT |
11: 4,891,055 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,784 (GRCm39) |
I482M |
probably damaging |
Het |
| Or12e14 |
A |
T |
2: 87,677,103 (GRCm39) |
I163L |
probably benign |
Het |
| Pgf |
T |
C |
12: 85,216,316 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTT |
TTTTTTTTTTTATTT |
15: 44,421,901 (GRCm39) |
|
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,800 (GRCm39) |
T134I |
unknown |
Het |
| Pramel32 |
T |
A |
4: 88,546,006 (GRCm39) |
R445S |
probably damaging |
Het |
| Prss52 |
A |
G |
14: 64,350,922 (GRCm39) |
S236G |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,960,105 (GRCm39) |
T223A |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,585 (GRCm39) |
N686S |
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
T |
19: 7,903,949 (GRCm39) |
G63S |
probably benign |
Het |
| Tmcc2 |
G |
T |
1: 132,288,756 (GRCm39) |
N310K |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,729,961 (GRCm39) |
L263Q |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,973,281 (GRCm39) |
S16P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,543,915 (GRCm39) |
T33024A |
probably benign |
Het |
| Usp2 |
A |
ACATGTGACCTGTTCTTCACTTACT |
9: 44,000,427 (GRCm39) |
|
probably benign |
Het |
| Was |
CTCCTCCT |
C |
X: 7,952,470 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
G |
11: 58,206,938 (GRCm39) |
V461A |
probably benign |
Het |
|
| Other mutations in Efhb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Efhb
|
APN |
17 |
53,769,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Efhb
|
APN |
17 |
53,769,649 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02041:Efhb
|
APN |
17 |
53,733,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02247:Efhb
|
APN |
17 |
53,708,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02637:Efhb
|
APN |
17 |
53,756,580 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02704:Efhb
|
APN |
17 |
53,733,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Efhb
|
APN |
17 |
53,706,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Efhb
|
APN |
17 |
53,769,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03221:Efhb
|
APN |
17 |
53,706,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Efhb
|
UTSW |
17 |
53,752,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Efhb
|
UTSW |
17 |
53,720,487 (GRCm39) |
splice site |
probably benign |
|
|
R1234:Efhb
|
UTSW |
17 |
53,758,615 (GRCm39) |
nonsense |
probably null |
|
|
R1466:Efhb
|
UTSW |
17 |
53,744,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Efhb
|
UTSW |
17 |
53,744,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1471:Efhb
|
UTSW |
17 |
53,706,140 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1624:Efhb
|
UTSW |
17 |
53,733,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Efhb
|
UTSW |
17 |
53,708,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Efhb
|
UTSW |
17 |
53,733,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2226:Efhb
|
UTSW |
17 |
53,769,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2415:Efhb
|
UTSW |
17 |
53,770,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3848:Efhb
|
UTSW |
17 |
53,734,024 (GRCm39) |
splice site |
probably benign |
|
|
R3858:Efhb
|
UTSW |
17 |
53,769,808 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4581:Efhb
|
UTSW |
17 |
53,733,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:Efhb
|
UTSW |
17 |
53,758,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Efhb
|
UTSW |
17 |
53,708,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5886:Efhb
|
UTSW |
17 |
53,758,582 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6054:Efhb
|
UTSW |
17 |
53,706,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6195:Efhb
|
UTSW |
17 |
53,769,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6233:Efhb
|
UTSW |
17 |
53,769,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6450:Efhb
|
UTSW |
17 |
53,759,632 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6550:Efhb
|
UTSW |
17 |
53,728,968 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6701:Efhb
|
UTSW |
17 |
53,706,091 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6967:Efhb
|
UTSW |
17 |
53,770,196 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7157:Efhb
|
UTSW |
17 |
53,707,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Efhb
|
UTSW |
17 |
53,708,549 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7694:Efhb
|
UTSW |
17 |
53,707,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8044:Efhb
|
UTSW |
17 |
53,706,143 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8176:Efhb
|
UTSW |
17 |
53,707,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Efhb
|
UTSW |
17 |
53,756,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8311:Efhb
|
UTSW |
17 |
53,720,489 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8821:Efhb
|
UTSW |
17 |
53,707,772 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8882:Efhb
|
UTSW |
17 |
53,769,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9146:Efhb
|
UTSW |
17 |
53,769,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9211:Efhb
|
UTSW |
17 |
53,756,507 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9760:Efhb
|
UTSW |
17 |
53,770,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF003:Efhb
|
UTSW |
17 |
53,707,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Efhb
|
UTSW |
17 |
53,744,211 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Efhb
|
UTSW |
17 |
53,744,154 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGCCTCTGCATAAGC -3'
(R):5'- GCTTCCTGGTTGGCAGAAG -3'
Sequencing Primer
(F):5'- GGGAATTGAACCTAGCTCCTCTG -3'
(R):5'- CCTGGTTGGCAGAAGGGAGATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation