Incidental Mutation 'R6255:Efcab7'
ID |
506045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab7
|
Ensembl Gene |
ENSMUSG00000073791 |
Gene Name |
EF-hand calcium binding domain 7 |
Synonyms |
|
MMRRC Submission |
044372-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6255 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
99717440-99769985 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 99717627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097959]
[ENSMUST00000106994]
[ENSMUST00000124547]
[ENSMUST00000143994]
[ENSMUST00000146258]
|
AlphaFold |
Q8VDY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097959
|
SMART Domains |
Protein: ENSMUSP00000095572 Gene: ENSMUSG00000073791
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: ENSMUST00000102786
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123045
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123830
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124547
|
Predicted Effect |
unknown
Transcript: ENSMUST00000143994
AA Change: W15R
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146258
|
SMART Domains |
Protein: ENSMUSP00000117153 Gene: ENSMUSG00000028549
Domain | Start | End | E-Value | Type |
Pfam:CENP-R
|
25 |
162 |
1e-63 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146739
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
All alleles(3) : Gene trapped(3) |
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,602,659 (GRCm39) |
V7E |
possibly damaging |
Het |
Aars2 |
G |
A |
17: 45,825,535 (GRCm39) |
G333S |
probably damaging |
Het |
Aen |
T |
A |
7: 78,555,592 (GRCm39) |
I85N |
probably damaging |
Het |
Ahnak |
C |
A |
19: 8,985,389 (GRCm39) |
H2224Q |
possibly damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,568,487 (GRCm39) |
R41H |
possibly damaging |
Het |
Bpifb9b |
T |
A |
2: 154,151,284 (GRCm39) |
W2R |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,779,390 (GRCm39) |
I139T |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,103,474 (GRCm39) |
N381I |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,735,011 (GRCm39) |
Y721C |
probably damaging |
Het |
Cfhr4 |
A |
T |
1: 139,680,749 (GRCm39) |
C256* |
probably null |
Het |
Cherp |
G |
T |
8: 73,224,725 (GRCm39) |
A125D |
probably damaging |
Het |
Cped1 |
G |
A |
6: 22,138,714 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
A |
18: 80,502,512 (GRCm39) |
|
probably null |
Het |
Cyp2c55 |
T |
C |
19: 39,007,111 (GRCm39) |
I169T |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,432,117 (GRCm39) |
L418P |
possibly damaging |
Het |
Efcab8 |
T |
C |
2: 153,652,188 (GRCm39) |
W466R |
possibly damaging |
Het |
Ehd3 |
C |
A |
17: 74,112,408 (GRCm39) |
N57K |
probably benign |
Het |
Ern2 |
C |
A |
7: 121,772,495 (GRCm39) |
K654N |
probably damaging |
Het |
Fbh1 |
A |
T |
2: 11,753,257 (GRCm39) |
F879L |
probably benign |
Het |
Gde1 |
T |
C |
7: 118,291,004 (GRCm39) |
D92G |
probably null |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Ifrd2 |
A |
G |
9: 107,469,290 (GRCm39) |
E346G |
probably damaging |
Het |
Ism1 |
AACGGACCCGTTCTTGTGGCTATGCA |
AA |
2: 139,587,962 (GRCm39) |
|
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,888,963 (GRCm39) |
V1102A |
possibly damaging |
Het |
Itgb6 |
A |
T |
2: 60,435,620 (GRCm39) |
I710N |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,947,705 (GRCm39) |
K1578E |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,346,902 (GRCm39) |
|
probably null |
Het |
Kitl |
T |
C |
10: 99,925,095 (GRCm39) |
*57Q |
probably null |
Het |
Lrat |
C |
A |
3: 82,810,812 (GRCm39) |
V70F |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,533,797 (GRCm39) |
M1022K |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,566,895 (GRCm39) |
T1875A |
unknown |
Het |
Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
Npas4 |
G |
A |
19: 5,036,403 (GRCm39) |
T587I |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,909,295 (GRCm39) |
V217A |
probably benign |
Het |
Or6c1b |
A |
G |
10: 129,273,557 (GRCm39) |
N292S |
possibly damaging |
Het |
Osbp |
C |
A |
19: 11,955,317 (GRCm39) |
A323D |
possibly damaging |
Het |
Panx2 |
G |
A |
15: 88,951,821 (GRCm39) |
R96H |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,254,341 (GRCm39) |
R385G |
possibly damaging |
Het |
Pkn2 |
T |
C |
3: 142,517,360 (GRCm39) |
T476A |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,203,226 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,280,969 (GRCm39) |
S94P |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,320,007 (GRCm39) |
I429L |
probably benign |
Het |
Rif1 |
A |
G |
2: 51,975,065 (GRCm39) |
K325E |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,264,578 (GRCm39) |
Y826C |
probably damaging |
Het |
Rsph10b |
G |
A |
5: 143,896,564 (GRCm39) |
G19R |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,924 (GRCm39) |
N361D |
probably damaging |
Het |
Slc26a9 |
A |
G |
1: 131,691,647 (GRCm39) |
D630G |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,181,314 (GRCm39) |
|
probably null |
Het |
Tspan10 |
T |
A |
11: 120,335,368 (GRCm39) |
C159* |
probably null |
Het |
Uba6 |
G |
A |
5: 86,312,624 (GRCm39) |
T23I |
probably benign |
Het |
Vmn2r74 |
T |
C |
7: 85,601,659 (GRCm39) |
T660A |
possibly damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,305,983 (GRCm39) |
N905S |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,488,214 (GRCm39) |
L963P |
possibly damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,359 (GRCm39) |
N452K |
probably benign |
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 |
R4469:Efcab7
|
UTSW |
4 |
99,766,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
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 |
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'- TAAGCGCTGGATGAGGTGTC -3'
(R):5'- TGGCTACCTAATTTCAGCTCAC -3'
Sequencing Primer
(F):5'- ATGAGGTGTCACCCCGTATG -3'
(R):5'- GGCTACCTAATTTCAGCTCACAAACC -3'
|
Posted On |
2018-02-28 |