Incidental Mutation 'R6717:Efcab7'
| ID |
529421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab7
|
| Ensembl Gene |
ENSMUSG00000073791 |
| Gene Name |
EF-hand calcium binding domain 7 |
| Synonyms |
|
| MMRRC Submission |
044835-MU
|
| Accession Numbers |
Genbank: NM_145549; MGI: 2385199 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99829198-99912788 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99904734 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 407
(D407G)
|
| 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: D407G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: D407G
| 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: ENSMUST00000123830
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136874
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
T |
5: 4,064,086 (GRCm38) |
L3122F |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,753,650 (GRCm38) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,020,889 (GRCm38) |
V621E |
probably damaging |
Het |
| Cfap126 |
T |
C |
1: 171,114,102 (GRCm38) |
|
probably null |
Het |
| Cog2 |
T |
C |
8: 124,525,749 (GRCm38) |
I64T |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,473,464 (GRCm38) |
|
probably null |
Het |
| Eif2b5 |
G |
T |
16: 20,505,283 (GRCm38) |
G459C |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,827,506 (GRCm38) |
E1168G |
probably damaging |
Het |
| Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,902 (GRCm38) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,496,312 (GRCm38) |
T980A |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,787,574 (GRCm38) |
V363A |
possibly damaging |
Het |
| Ggt6 |
T |
A |
11: 72,437,520 (GRCm38) |
L244* |
probably null |
Het |
| Gm13119 |
G |
T |
4: 144,362,657 (GRCm38) |
V182L |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,615,137 (GRCm38) |
I768F |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,416,237 (GRCm38) |
M560I |
probably benign |
Het |
| Hapln4 |
G |
A |
8: 70,085,090 (GRCm38) |
E145K |
probably damaging |
Het |
| Hoxd9 |
C |
T |
2: 74,698,389 (GRCm38) |
P112S |
probably benign |
Het |
| Ly6g6f |
T |
A |
17: 35,085,574 (GRCm38) |
M1L |
probably benign |
Het |
| Mast1 |
T |
C |
8: 84,917,754 (GRCm38) |
T849A |
probably benign |
Het |
| Mob4 |
A |
T |
1: 55,136,713 (GRCm38) |
M39L |
possibly damaging |
Het |
| Mrgpre |
A |
T |
7: 143,781,523 (GRCm38) |
L81Q |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 108,080,575 (GRCm38) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,857,822 (GRCm38) |
R1502* |
probably null |
Het |
| Olfr1020 |
T |
A |
2: 85,850,223 (GRCm38) |
I257N |
probably damaging |
Het |
| Olfr142 |
T |
A |
2: 90,252,524 (GRCm38) |
I155L |
probably benign |
Het |
| Olfr311 |
T |
C |
11: 58,841,287 (GRCm38) |
Y58H |
probably damaging |
Het |
| Pdc |
A |
G |
1: 150,333,018 (GRCm38) |
D84G |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,207,239 (GRCm38) |
N443D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 109,614,769 (GRCm38) |
W85R |
unknown |
Het |
| Rfc1 |
A |
G |
5: 65,312,961 (GRCm38) |
S68P |
probably damaging |
Het |
| Rfc1 |
G |
A |
5: 65,302,004 (GRCm38) |
Q190* |
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,561,490 (GRCm38) |
V432A |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,118,982 (GRCm38) |
S204P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,332,287 (GRCm38) |
E205G |
probably damaging |
Het |
| Slc2a8 |
A |
C |
2: 32,976,177 (GRCm38) |
M277R |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,354,423 (GRCm38) |
Y566C |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,354,303 (GRCm38) |
N185S |
probably benign |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,558,310 (GRCm38) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 109,327,616 (GRCm38) |
T279S |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,240,950 (GRCm38) |
|
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,362,104 (GRCm38) |
T516A |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,564,029 (GRCm38) |
L1088Q |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,784,421 (GRCm38) |
M879L |
probably benign |
Het |
| Tnk2 |
A |
G |
16: 32,670,869 (GRCm38) |
E322G |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,285,436 (GRCm38) |
V2081A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,794,409 (GRCm38) |
|
probably null |
Het |
| Zfp105 |
T |
C |
9: 122,930,308 (GRCm38) |
V348A |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,915,409 (GRCm38) |
R562G |
probably benign |
Het |
|
| Other mutations in Efcab7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Efcab7
|
APN |
4 |
99,831,463 (GRCm38) |
missense |
probably benign |
0.12 |
|
3-1:Efcab7
|
UTSW |
4 |
99,901,769 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0023:Efcab7
|
UTSW |
4 |
99,901,637 (GRCm38) |
splice site |
probably benign |
|
|
R0085:Efcab7
|
UTSW |
4 |
99,904,680 (GRCm38) |
unclassified |
probably benign |
|
|
R0122:Efcab7
|
UTSW |
4 |
99,892,363 (GRCm38) |
splice site |
probably benign |
|
|
R0326:Efcab7
|
UTSW |
4 |
99,831,394 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0382:Efcab7
|
UTSW |
4 |
99,901,769 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0410:Efcab7
|
UTSW |
4 |
99,878,285 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0413:Efcab7
|
UTSW |
4 |
99,909,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0611:Efcab7
|
UTSW |
4 |
99,901,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0689:Efcab7
|
UTSW |
4 |
99,904,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1114:Efcab7
|
UTSW |
4 |
99,878,250 (GRCm38) |
nonsense |
probably null |
|
|
R1459:Efcab7
|
UTSW |
4 |
99,912,547 (GRCm38) |
missense |
probably null |
1.00 |
|
R1722:Efcab7
|
UTSW |
4 |
99,900,618 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1932:Efcab7
|
UTSW |
4 |
99,911,018 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1954:Efcab7
|
UTSW |
4 |
99,900,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2305:Efcab7
|
UTSW |
4 |
99,831,481 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2358:Efcab7
|
UTSW |
4 |
99,831,586 (GRCm38) |
unclassified |
probably benign |
|
|
R2845:Efcab7
|
UTSW |
4 |
99,909,638 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3915:Efcab7
|
UTSW |
4 |
99,878,173 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4469:Efcab7
|
UTSW |
4 |
99,909,704 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4686:Efcab7
|
UTSW |
4 |
99,878,116 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4737:Efcab7
|
UTSW |
4 |
99,831,568 (GRCm38) |
nonsense |
probably null |
|
|
R4970:Efcab7
|
UTSW |
4 |
99,831,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5120:Efcab7
|
UTSW |
4 |
99,897,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5264:Efcab7
|
UTSW |
4 |
99,878,170 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5366:Efcab7
|
UTSW |
4 |
99,904,734 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5901:Efcab7
|
UTSW |
4 |
99,909,744 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6255:Efcab7
|
UTSW |
4 |
99,829,390 (GRCm38) |
unclassified |
probably benign |
|
|
R6438:Efcab7
|
UTSW |
4 |
99,909,772 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6451:Efcab7
|
UTSW |
4 |
99,831,501 (GRCm38) |
nonsense |
probably null |
|
|
R6766:Efcab7
|
UTSW |
4 |
99,877,959 (GRCm38) |
frame shift |
probably null |
|
|
R6855:Efcab7
|
UTSW |
4 |
99,900,580 (GRCm38) |
nonsense |
probably null |
|
|
R6865:Efcab7
|
UTSW |
4 |
99,912,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7868:Efcab7
|
UTSW |
4 |
99,888,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7893:Efcab7
|
UTSW |
4 |
99,888,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8069:Efcab7
|
UTSW |
4 |
99,829,378 (GRCm38) |
missense |
unknown |
|
|
R8787:Efcab7
|
UTSW |
4 |
99,900,594 (GRCm38) |
missense |
probably null |
0.99 |
|
R9214:Efcab7
|
UTSW |
4 |
99,878,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9649:Efcab7
|
UTSW |
4 |
99,904,705 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGTCCTATGATGGTGTCTG -3'
(R):5'- TCCAGGGACTTGAGTGTCTAG -3'
Sequencing Primer
(F):5'- TGTTGAGCTGTGGGAAGTTAGAAAG -3'
(R):5'- TGAGTGTCTAGATTTAAAAAGTCCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation