Incidental Mutation 'R5145:Efcab12'
| ID |
395080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab12
|
| Ensembl Gene |
ENSMUSG00000030321 |
| Gene Name |
EF-hand calcium binding domain 12 |
| Synonyms |
BC060267 |
| MMRRC Submission |
042729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5145 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115787695-115815177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115800238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 262
(I262F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032468]
[ENSMUST00000124531]
[ENSMUST00000184428]
|
| AlphaFold |
V9GXH0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032468
AA Change: I262F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321
AA Change: I262F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mr8a_
|
302 |
344 |
1e-3 |
SMART |
|
low complexity region
|
438 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124531
AA Change: I262F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321
AA Change: I262F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mr8a_
|
302 |
344 |
3e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184428
AA Change: I262F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321
AA Change: I262F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mr8a_
|
302 |
344 |
1e-3 |
SMART |
|
low complexity region
|
438 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203044
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
| Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
| Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
| Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,263 (GRCm39) |
E79G |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,431,987 (GRCm39) |
I42S |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
| Or7a36 |
A |
G |
10: 78,820,143 (GRCm39) |
E173G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,738,259 (GRCm39) |
V179A |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Tti1 |
G |
A |
2: 157,850,432 (GRCm39) |
A269V |
probably benign |
Het |
| Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
possibly damaging |
Het |
|
| Other mutations in Efcab12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Efcab12
|
APN |
6 |
115,800,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02748:Efcab12
|
APN |
6 |
115,797,063 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03148:Efcab12
|
APN |
6 |
115,787,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Efcab12
|
UTSW |
6 |
115,791,611 (GRCm39) |
splice site |
probably benign |
|
|
R0366:Efcab12
|
UTSW |
6 |
115,800,209 (GRCm39) |
splice site |
probably benign |
|
|
R2847:Efcab12
|
UTSW |
6 |
115,788,072 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4674:Efcab12
|
UTSW |
6 |
115,800,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4707:Efcab12
|
UTSW |
6 |
115,791,510 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5185:Efcab12
|
UTSW |
6 |
115,800,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6168:Efcab12
|
UTSW |
6 |
115,791,577 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6960:Efcab12
|
UTSW |
6 |
115,815,273 (GRCm39) |
unclassified |
probably benign |
|
|
R7187:Efcab12
|
UTSW |
6 |
115,800,474 (GRCm39) |
missense |
not run |
|
|
R7297:Efcab12
|
UTSW |
6 |
115,787,997 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7324:Efcab12
|
UTSW |
6 |
115,800,555 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7715:Efcab12
|
UTSW |
6 |
115,800,504 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7996:Efcab12
|
UTSW |
6 |
115,800,378 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8418:Efcab12
|
UTSW |
6 |
115,799,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8527:Efcab12
|
UTSW |
6 |
115,791,535 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8923:Efcab12
|
UTSW |
6 |
115,787,982 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8924:Efcab12
|
UTSW |
6 |
115,800,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9364:Efcab12
|
UTSW |
6 |
115,814,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Efcab12
|
UTSW |
6 |
115,792,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9762:Efcab12
|
UTSW |
6 |
115,800,331 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTGTATTGCACTGCAG -3'
(R):5'- CTACCAGTGGACAAGAAGGTCTG -3'
Sequencing Primer
(F):5'- GCACTGCAGTCTCTTAATATGGATG -3'
(R):5'- TCTGGCTGAATCAGAGGGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation