Incidental Mutation 'R4197:Efcab15'
ID |
377734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab15
|
Ensembl Gene |
ENSMUSG00000020940 |
Gene Name |
EF-hand calcium binding domain 15 |
Synonyms |
1700023F06Rik |
MMRRC Submission |
041028-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
103089769-103099374 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 103091966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 94
(S94L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021323]
[ENSMUST00000042286]
[ENSMUST00000107026]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000172850]
[ENSMUST00000174567]
[ENSMUST00000218163]
|
AlphaFold |
A2AB62 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021323
AA Change: S94L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021323 Gene: ENSMUSG00000020940 AA Change: S94L
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
7.23e1 |
SMART |
EFh
|
145 |
173 |
6.68e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042286
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805
Domain | Start | End | E-Value | Type |
Drf_GBD
|
27 |
280 |
1.04e-87 |
SMART |
Drf_FH3
|
283 |
632 |
2.29e-75 |
SMART |
FH2
|
627 |
1057 |
4.35e-142 |
SMART |
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107026
AA Change: S25L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102641 Gene: ENSMUSG00000020940 AA Change: S25L
Domain | Start | End | E-Value | Type |
EFh
|
40 |
68 |
7.23e1 |
SMART |
EFh
|
76 |
104 |
6.68e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107027
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805
Domain | Start | End | E-Value | Type |
Drf_GBD
|
27 |
280 |
1.04e-87 |
SMART |
Drf_FH3
|
283 |
632 |
2.29e-75 |
SMART |
FH2
|
627 |
1057 |
4.35e-142 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129726
|
SMART Domains |
Protein: ENSMUSP00000133299 Gene: ENSMUSG00000055805
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
50 |
8.2e-10 |
PFAM |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172850
AA Change: S94L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139837 Gene: ENSMUSG00000020940 AA Change: S94L
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
3.5e-1 |
SMART |
EFh
|
145 |
173 |
3.2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174567
AA Change: S129L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134292 Gene: ENSMUSG00000020940 AA Change: S129L
Domain | Start | End | E-Value | Type |
SCOP:d1mr8a_
|
153 |
209 |
5e-8 |
SMART |
Blast:EFh
|
159 |
187 |
4e-12 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218163
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
Other mutations in Efcab15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01415:Efcab15
|
APN |
11 |
103,091,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01797:Efcab15
|
APN |
11 |
103,089,794 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02507:Efcab15
|
APN |
11 |
103,090,275 (GRCm39) |
missense |
probably damaging |
0.99 |
catapult
|
UTSW |
11 |
103,098,947 (GRCm39) |
splice site |
probably null |
|
trebuchet
|
UTSW |
11 |
103,098,944 (GRCm39) |
splice site |
probably null |
|
PIT4514001:Efcab15
|
UTSW |
11 |
103,091,960 (GRCm39) |
missense |
probably benign |
0.00 |
R1715:Efcab15
|
UTSW |
11 |
103,090,650 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5195:Efcab15
|
UTSW |
11 |
103,089,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Efcab15
|
UTSW |
11 |
103,098,947 (GRCm39) |
splice site |
probably null |
|
R7366:Efcab15
|
UTSW |
11 |
103,098,944 (GRCm39) |
splice site |
probably null |
|
R7602:Efcab15
|
UTSW |
11 |
103,091,004 (GRCm39) |
missense |
probably benign |
|
R9100:Efcab15
|
UTSW |
11 |
103,090,893 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAAGGTGAACACTGTGTG -3'
(R):5'- CTAAAGAGGAGGCCTTACTGAG -3'
Sequencing Primer
(F):5'- CTGTGTGTTTAAAGACTTAGACTGGC -3'
(R):5'- GAGATCTCAAGAATCCTTCTGAAGC -3'
|
Posted On |
2016-03-31 |