Incidental Mutation 'R6445:Efcab14'
| ID |
519157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab14
|
| Ensembl Gene |
ENSMUSG00000034210 |
| Gene Name |
EF-hand calcium binding domain 14 |
| Synonyms |
4732418C07Rik |
| MMRRC Submission |
044388-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115594941-115634524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 115613668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 205
(H205Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074425]
[ENSMUST00000106522]
[ENSMUST00000106524]
[ENSMUST00000106525]
|
| AlphaFold |
Q8BGQ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074425
AA Change: H205Q
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074025
Gene: ENSMUSG00000034210
AA Change: H205Q
| 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 |
probably benign
Transcript: ENSMUST00000106522
AA Change: H205Q
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102132
Gene: ENSMUSG00000034210
AA Change: H205Q
| 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: H205Q
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102134
Gene: ENSMUSG00000034210
AA Change: H205Q
| 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 |
probably benign
Transcript: ENSMUST00000106525
AA Change: H205Q
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102135
Gene: ENSMUSG00000034210
AA Change: H205Q
| 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: ENSMUST00000132306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136593
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
C |
A |
14: 44,738,731 (GRCm39) |
D43E |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 165,012,612 (GRCm39) |
I158V |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,052,860 (GRCm39) |
I1676V |
probably benign |
Het |
| Crem |
T |
C |
18: 3,309,671 (GRCm39) |
Y18C |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,412 (GRCm39) |
I146V |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,752,558 (GRCm39) |
Y1437C |
probably damaging |
Het |
| Gm3055 |
T |
A |
10: 81,945,506 (GRCm39) |
N375K |
possibly damaging |
Het |
| Gm36864 |
A |
T |
7: 43,886,842 (GRCm39) |
Q245L |
possibly damaging |
Het |
| Gna11 |
A |
T |
10: 81,369,167 (GRCm39) |
I132N |
probably damaging |
Het |
| Ikzf4 |
C |
A |
10: 128,472,424 (GRCm39) |
|
probably null |
Het |
| Il9r |
C |
T |
11: 32,141,000 (GRCm39) |
G346D |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,648,775 (GRCm39) |
R190Q |
probably benign |
Het |
| Mfsd8 |
T |
C |
3: 40,791,553 (GRCm39) |
I54V |
probably damaging |
Het |
| Nktr |
G |
T |
9: 121,577,480 (GRCm39) |
|
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,472 (GRCm39) |
F168Y |
probably damaging |
Het |
| Peli2 |
T |
C |
14: 48,493,905 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,224,670 (GRCm39) |
A202T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,231,353 (GRCm39) |
I832K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,124,212 (GRCm39) |
K2765E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,296,840 (GRCm39) |
N744K |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,669,841 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,211,318 (GRCm39) |
R281S |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,383,393 (GRCm39) |
V1423A |
probably benign |
Het |
| Syt10 |
G |
A |
15: 89,698,471 (GRCm39) |
T291I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,744,880 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,063,719 (GRCm39) |
T186A |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,812,092 (GRCm39) |
D874E |
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 |
|
R5584:Efcab14
|
UTSW |
4 |
115,621,794 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
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'- GTTGCCTTTGGGTCAGAAAG -3'
(R):5'- TAGTGTCTGCTCAGCTCAGTG -3'
Sequencing Primer
(F):5'- TTTGGGTCAGAAAGGGGGAAACTAC -3'
(R):5'- CTGCTCAGCTCAGTGGGAAATTAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation