Incidental Mutation 'R4469:Efcab7'
| ID |
329311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab7
|
| Ensembl Gene |
ENSMUSG00000073791 |
| Gene Name |
EF-hand calcium binding domain 7 |
| Synonyms |
|
| MMRRC Submission |
041726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4469 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99717440-99769985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99766901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 482
(D482G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097959]
[ENSMUST00000136874]
|
| AlphaFold |
Q8VDY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097959
AA Change: D482G
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: D482G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
99 |
N/A |
INTRINSIC |
|
SCOP:d2pvba_
|
339 |
408 |
2e-4 |
SMART |
|
Blast:EFh
|
348 |
376 |
2e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123830
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136874
AA Change: D42G
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,345 (GRCm39) |
K196E |
probably damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
| Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
| Ces2g |
A |
T |
8: 105,692,602 (GRCm39) |
I301F |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,657,997 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
| Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
| G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
| Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
| Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
| Nostrin |
C |
G |
2: 69,006,061 (GRCm39) |
I248M |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,953,944 (GRCm39) |
V266A |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
| Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
probably damaging |
Het |
|
| Other mutations in Efcab7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Efcab7
|
APN |
4 |
99,719,700 (GRCm39) |
missense |
probably benign |
0.12 |
|
3-1:Efcab7
|
UTSW |
4 |
99,758,966 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0023:Efcab7
|
UTSW |
4 |
99,758,834 (GRCm39) |
splice site |
probably benign |
|
|
R0085:Efcab7
|
UTSW |
4 |
99,761,877 (GRCm39) |
unclassified |
probably benign |
|
|
R0122:Efcab7
|
UTSW |
4 |
99,749,560 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Efcab7
|
UTSW |
4 |
99,719,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0382:Efcab7
|
UTSW |
4 |
99,758,966 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0410:Efcab7
|
UTSW |
4 |
99,735,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0413:Efcab7
|
UTSW |
4 |
99,766,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Efcab7
|
UTSW |
4 |
99,758,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Efcab7
|
UTSW |
4 |
99,761,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Efcab7
|
UTSW |
4 |
99,735,452 (GRCm39) |
nonsense |
probably null |
|
|
R1459:Efcab7
|
UTSW |
4 |
99,769,744 (GRCm39) |
missense |
probably null |
1.00 |
|
R1722:Efcab7
|
UTSW |
4 |
99,757,815 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1932:Efcab7
|
UTSW |
4 |
99,768,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Efcab7
|
UTSW |
4 |
99,757,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2305:Efcab7
|
UTSW |
4 |
99,719,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2358:Efcab7
|
UTSW |
4 |
99,719,823 (GRCm39) |
unclassified |
probably benign |
|
|
R2845:Efcab7
|
UTSW |
4 |
99,766,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3915:Efcab7
|
UTSW |
4 |
99,735,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4686:Efcab7
|
UTSW |
4 |
99,735,318 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4737:Efcab7
|
UTSW |
4 |
99,719,805 (GRCm39) |
nonsense |
probably null |
|
|
R4970:Efcab7
|
UTSW |
4 |
99,719,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Efcab7
|
UTSW |
4 |
99,754,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Efcab7
|
UTSW |
4 |
99,735,372 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5366:Efcab7
|
UTSW |
4 |
99,761,931 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5901:Efcab7
|
UTSW |
4 |
99,766,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6255:Efcab7
|
UTSW |
4 |
99,717,627 (GRCm39) |
unclassified |
probably benign |
|
|
R6438:Efcab7
|
UTSW |
4 |
99,766,969 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6451:Efcab7
|
UTSW |
4 |
99,719,738 (GRCm39) |
nonsense |
probably null |
|
|
R6717:Efcab7
|
UTSW |
4 |
99,761,931 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6766:Efcab7
|
UTSW |
4 |
99,735,161 (GRCm39) |
frame shift |
probably null |
|
|
R6855:Efcab7
|
UTSW |
4 |
99,757,777 (GRCm39) |
nonsense |
probably null |
|
|
R6865:Efcab7
|
UTSW |
4 |
99,769,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7868:Efcab7
|
UTSW |
4 |
99,746,154 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7893:Efcab7
|
UTSW |
4 |
99,746,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Efcab7
|
UTSW |
4 |
99,717,615 (GRCm39) |
missense |
unknown |
|
|
R8787:Efcab7
|
UTSW |
4 |
99,757,791 (GRCm39) |
missense |
probably null |
0.99 |
|
R9214:Efcab7
|
UTSW |
4 |
99,735,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Efcab7
|
UTSW |
4 |
99,761,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTACCAGGAGGCTAATCCAAG -3'
(R):5'- GGTATTTGGCTGCAATATAAGAAGG -3'
Sequencing Primer
(F):5'- CCAGGAGGCTAATCCAAGATTTTG -3'
(R):5'- GGAAAGCTACCACATAATCAATACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation