Incidental Mutation 'R5901:Efcab7'
| ID |
456311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab7
|
| Ensembl Gene |
ENSMUSG00000073791 |
| Gene Name |
EF-hand calcium binding domain 7 |
| Synonyms |
|
| MMRRC Submission |
043239-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5901 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
99717440-99769985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99766941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 495
(H495Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097959]
[ENSMUST00000136874]
|
| AlphaFold |
Q8VDY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097959
AA Change: H495Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: H495Q
| 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 |
possibly damaging
Transcript: ENSMUST00000136874
AA Change: H55Q
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,407,644 (GRCm39) |
E38G |
probably damaging |
Het |
| Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
| B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
| BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
| Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
| Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
| Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
| Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
| Kif17 |
T |
C |
4: 138,025,643 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
| Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,867,536 (GRCm39) |
L450P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
| Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
| Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,715 (GRCm39) |
N702D |
possibly damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
| Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
| Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
| Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
| Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
| Xkr4 |
A |
T |
1: 3,286,901 (GRCm39) |
F430I |
probably damaging |
Het |
| Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
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 |
|
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 |
|
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'- CAGGAGGCTAATCCAAGATTTTG -3'
(R):5'- GGTATTTGGCTGCAATATAAGAAGG -3'
Sequencing Primer
(F):5'- GTTTGTTTCCCTCATCAGGCATG -3'
(R):5'- GGCTGCAATATAAGAAGGAAGATAAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation