Incidental Mutation 'R5584:Efcab14'
| ID |
438607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab14
|
| Ensembl Gene |
ENSMUSG00000034210 |
| Gene Name |
EF-hand calcium binding domain 14 |
| Synonyms |
4732418C07Rik |
| MMRRC Submission |
043138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5584 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115594941-115634524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115621794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 358
(V358A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074425]
[ENSMUST00000106522]
[ENSMUST00000106524]
[ENSMUST00000106525]
|
| AlphaFold |
Q8BGQ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074425
AA Change: V358A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210
AA Change: V358A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
SCOP:d1fi6a_
|
425 |
498 |
2e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106522
AA Change: V358A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210
AA Change: V358A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106524
AA Change: V294A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210
AA Change: V294A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
SCOP:d1hqva_
|
360 |
418 |
3e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106525
AA Change: V358A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210
AA Change: V358A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
SCOP:d1hqva_
|
424 |
482 |
3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141927
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,553,386 (GRCm39) |
G5496D |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,293,031 (GRCm39) |
Q262H |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,661,457 (GRCm39) |
T1070A |
possibly damaging |
Het |
| Epb41l4a |
G |
T |
18: 33,987,324 (GRCm39) |
T351N |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,406 (GRCm39) |
V237E |
possibly damaging |
Het |
| Ezh2 |
A |
T |
6: 47,508,950 (GRCm39) |
N684K |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,627 (GRCm39) |
T946A |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,229,574 (GRCm39) |
I125N |
probably damaging |
Het |
| Gcsam |
A |
C |
16: 45,440,226 (GRCm39) |
I90L |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,995,341 (GRCm39) |
I87N |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,313,593 (GRCm39) |
N1944K |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,281,632 (GRCm39) |
D3913G |
probably damaging |
Het |
| Ltb4r1 |
T |
A |
14: 56,004,844 (GRCm39) |
M49K |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,382,647 (GRCm39) |
I273T |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,550 (GRCm39) |
S384T |
probably damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,602 (GRCm39) |
I363S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,818 (GRCm39) |
D482E |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,286 (GRCm39) |
Y262C |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,678,366 (GRCm39) |
K284E |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,958,289 (GRCm39) |
N124S |
probably benign |
Het |
| Rbm46 |
C |
A |
3: 82,771,465 (GRCm39) |
M383I |
probably benign |
Het |
| Rfx1 |
G |
A |
8: 84,814,706 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,615,975 (GRCm39) |
V493A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,620,954 (GRCm39) |
V520A |
possibly damaging |
Het |
| Sis |
C |
G |
3: 72,817,748 (GRCm39) |
W1488C |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,469,753 (GRCm39) |
F411S |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,651 (GRCm39) |
N405K |
probably damaging |
Het |
| Thnsl1 |
C |
T |
2: 21,218,223 (GRCm39) |
P138L |
probably damaging |
Het |
| Trim27 |
T |
A |
13: 21,376,719 (GRCm39) |
I489N |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,852,332 (GRCm39) |
V829I |
possibly damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,396 (GRCm39) |
D217G |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,843,623 (GRCm39) |
T272A |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,965,933 (GRCm39) |
N806I |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,236,218 (GRCm39) |
E164G |
probably damaging |
Het |
|
| Other mutations in Efcab14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02232:Efcab14
|
APN |
4 |
115,617,261 (GRCm39) |
splice site |
probably benign |
|
|
IGL02300:Efcab14
|
APN |
4 |
115,616,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02598:Efcab14
|
APN |
4 |
115,597,631 (GRCm39) |
nonsense |
probably null |
|
|
IGL02680:Efcab14
|
APN |
4 |
115,597,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Efcab14
|
APN |
4 |
115,596,001 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0123:Efcab14
|
UTSW |
4 |
115,597,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Efcab14
|
UTSW |
4 |
115,597,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1275:Efcab14
|
UTSW |
4 |
115,613,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Efcab14
|
UTSW |
4 |
115,613,714 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1590:Efcab14
|
UTSW |
4 |
115,613,746 (GRCm39) |
splice site |
probably benign |
|
|
R1694:Efcab14
|
UTSW |
4 |
115,603,736 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1768:Efcab14
|
UTSW |
4 |
115,610,116 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1769:Efcab14
|
UTSW |
4 |
115,610,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3887:Efcab14
|
UTSW |
4 |
115,595,857 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4158:Efcab14
|
UTSW |
4 |
115,597,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4160:Efcab14
|
UTSW |
4 |
115,597,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5690:Efcab14
|
UTSW |
4 |
115,617,244 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5796:Efcab14
|
UTSW |
4 |
115,603,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5945:Efcab14
|
UTSW |
4 |
115,613,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6445:Efcab14
|
UTSW |
4 |
115,613,668 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6761:Efcab14
|
UTSW |
4 |
115,596,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7564:Efcab14
|
UTSW |
4 |
115,617,159 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8030:Efcab14
|
UTSW |
4 |
115,623,599 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8747:Efcab14
|
UTSW |
4 |
115,603,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9467:Efcab14
|
UTSW |
4 |
115,610,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Efcab14
|
UTSW |
4 |
115,625,901 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9760:Efcab14
|
UTSW |
4 |
115,616,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Efcab14
|
UTSW |
4 |
115,623,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Efcab14
|
UTSW |
4 |
115,595,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCAGCTGAGCACTTATC -3'
(R):5'- ACTCGGTCCCATTAGTGCTG -3'
Sequencing Primer
(F):5'- CCAAAGACAGTCCTAGTATTTGTCC -3'
(R):5'- ATTAGTGCTGGCGGACAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation