Incidental Mutation 'IGL01797:Efcab15'
| ID |
155398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Efcab15
|
| Ensembl Gene |
ENSMUSG00000020940 |
| Gene Name |
EF-hand calcium binding domain 15 |
| Synonyms |
1700023F06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01797
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103089769-103099374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103089794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 381
(Y381C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021323
(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 damaging
Transcript: ENSMUST00000021323
AA Change: Y381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940
AA Change: Y381C
| 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 damaging
Transcript: ENSMUST00000107026
AA Change: Y312C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940
AA Change: Y312C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940
| 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
|
| SMART Domains |
Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940
| 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 |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,113,760 (GRCm39) |
V877A |
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,531,511 (GRCm39) |
I178V |
probably damaging |
Het |
| Cnbp |
A |
G |
6: 87,822,542 (GRCm39) |
|
probably benign |
Het |
| Coq8a |
A |
T |
1: 179,997,284 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
A |
G |
10: 127,113,182 (GRCm39) |
D244G |
possibly damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,618,630 (GRCm39) |
|
probably null |
Het |
| Faiml |
T |
C |
9: 99,116,442 (GRCm39) |
K83E |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,854,925 (GRCm39) |
C159* |
probably null |
Het |
| Fgd3 |
A |
T |
13: 49,443,065 (GRCm39) |
V169E |
probably damaging |
Het |
| Ice1 |
G |
T |
13: 70,772,065 (GRCm39) |
T51K |
probably damaging |
Het |
| Iqca1 |
A |
C |
1: 90,072,541 (GRCm39) |
|
probably null |
Het |
| Jup |
C |
A |
11: 100,272,498 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,915 (GRCm39) |
V373A |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,802 (GRCm39) |
M9K |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,706,086 (GRCm39) |
V480A |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,404,225 (GRCm39) |
H344R |
probably damaging |
Het |
| Or13a21 |
A |
G |
7: 139,998,931 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,644 (GRCm39) |
D70V |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,487,883 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
G |
A |
15: 5,198,187 (GRCm39) |
D159N |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,831,721 (GRCm39) |
I736N |
probably damaging |
Het |
| Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,398,459 (GRCm39) |
I286V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 86,003,371 (GRCm39) |
I1069K |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,540,257 (GRCm39) |
E34243A |
possibly damaging |
Het |
| Uqcr10 |
A |
C |
11: 4,654,179 (GRCm39) |
I43S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 187,995,706 (GRCm39) |
M159K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,041,048 (GRCm39) |
|
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,195 (GRCm39) |
D147V |
probably benign |
Het |
| Xntrpc |
T |
C |
7: 101,739,753 (GRCm39) |
I559T |
possibly damaging |
Het |
| Zfp268 |
T |
A |
4: 145,347,241 (GRCm39) |
N48K |
probably damaging |
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 |
|
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 |
|
|
R4197:Efcab15
|
UTSW |
11 |
103,091,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation