Incidental Mutation 'R6967:Efhb'
| ID |
542081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhb
|
| Ensembl Gene |
ENSMUSG00000023931 |
| Gene Name |
EF hand domain family, member B |
| Synonyms |
4921525D22Rik |
| MMRRC Submission |
045077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53770196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 38
(L38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
| AlphaFold |
Q8CDU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024725
AA Change: L38I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: L38I
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
A |
G |
7: 103,708,212 (GRCm39) |
I199T |
probably benign |
Het |
| Adam23 |
T |
G |
1: 63,602,495 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
C |
T |
9: 30,865,787 (GRCm39) |
T445I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,864,524 (GRCm39) |
V752A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,130 (GRCm39) |
E1437G |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,998 (GRCm39) |
S131N |
possibly damaging |
Het |
| Ces1f |
G |
A |
8: 93,994,625 (GRCm39) |
P262L |
probably benign |
Het |
| Chrna2 |
A |
T |
14: 66,388,398 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,797,420 (GRCm39) |
V1295M |
possibly damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
| Dach1 |
A |
T |
14: 98,140,633 (GRCm39) |
S456R |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,499,231 (GRCm39) |
D659G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,585,821 (GRCm39) |
V586A |
probably damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,738,429 (GRCm39) |
S108P |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,987,344 (GRCm39) |
N313S |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,482,102 (GRCm39) |
E172G |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,292,734 (GRCm39) |
V191A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
C |
T |
9: 58,731,228 (GRCm39) |
T145M |
unknown |
Het |
| Kirrel3 |
T |
C |
9: 34,946,202 (GRCm39) |
S654P |
probably damaging |
Het |
| Klrb1 |
A |
T |
6: 128,687,486 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,025,339 (GRCm39) |
D166V |
probably damaging |
Het |
| Lipk |
T |
A |
19: 34,017,794 (GRCm39) |
Y277* |
probably null |
Het |
| Ly6g |
A |
C |
15: 75,030,398 (GRCm39) |
N49T |
possibly damaging |
Het |
| Ms4a4c |
A |
T |
19: 11,392,191 (GRCm39) |
Q4L |
probably benign |
Het |
| Nfya |
A |
C |
17: 48,699,932 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,913,709 (GRCm39) |
V530A |
probably benign |
Het |
| Ocln |
A |
T |
13: 100,675,796 (GRCm39) |
Y232* |
probably null |
Het |
| Or10ag59 |
A |
G |
2: 87,405,857 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or2r2 |
A |
G |
6: 42,463,947 (GRCm39) |
F60S |
probably damaging |
Het |
| Or4d2b |
C |
T |
11: 87,780,324 (GRCm39) |
V133I |
probably benign |
Het |
| Or5b114-ps1 |
A |
G |
19: 13,352,815 (GRCm39) |
H163R |
unknown |
Het |
| Otogl |
G |
A |
10: 107,649,911 (GRCm39) |
A1148V |
probably benign |
Het |
| Paqr5 |
C |
T |
9: 61,880,113 (GRCm39) |
W46* |
probably null |
Het |
| Psd2 |
C |
A |
18: 36,113,385 (GRCm39) |
L286M |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,612,311 (GRCm39) |
Y27* |
probably null |
Het |
| Ripk2 |
A |
G |
4: 16,158,275 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
C |
T |
7: 4,967,146 (GRCm39) |
|
probably null |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,466,728 (GRCm39) |
D4072A |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,912,345 (GRCm39) |
Y214C |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,513,202 (GRCm39) |
D256E |
possibly damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,847 (GRCm39) |
Y90C |
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,469,564 (GRCm39) |
I1088T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,624,819 (GRCm39) |
D1710E |
probably benign |
Het |
| Tmc7 |
T |
A |
7: 118,146,901 (GRCm39) |
T459S |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,780 (GRCm39) |
Y164C |
probably damaging |
Het |
| Tmem275 |
A |
G |
4: 115,755,491 (GRCm39) |
T97A |
unknown |
Het |
| Tmem63b |
T |
C |
17: 45,977,558 (GRCm39) |
E356G |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,415,357 (GRCm39) |
I261V |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,544 (GRCm39) |
K121* |
probably null |
Het |
| Zc3h12d |
A |
T |
10: 7,715,644 (GRCm39) |
S16C |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,812 (GRCm39) |
M1744K |
probably damaging |
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 |
|
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 |
|
RF012:Efhb
|
UTSW |
17 |
53,720,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TACCCATCTCTGTGGGTGTC -3'
(R):5'- AGTCTGTTTCCCAGGTAACGG -3'
Sequencing Primer
(F):5'- GGGTGTCCCAGAAATAGTATGTC -3'
(R):5'- CTGTTTCCCAGGTAACGGAATAAAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation