Incidental Mutation 'R2305:Efcab7'
| ID |
244548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab7
|
| Ensembl Gene |
ENSMUSG00000073791 |
| Gene Name |
EF-hand calcium binding domain 7 |
| Synonyms |
|
| MMRRC Submission |
040304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2305 (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 99719718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097959]
[ENSMUST00000106994]
[ENSMUST00000124547]
[ENSMUST00000143994]
[ENSMUST00000146258]
|
| AlphaFold |
Q8VDY4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097959
AA Change: T30A
|
| SMART Domains |
Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: T30A
| 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 |
possibly damaging
Transcript: ENSMUST00000106994
AA Change: T30A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123830
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124547
AA Change: T30A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143994
AA Change: T67A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146739
|
| 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 |
|
| Meta Mutation Damage Score |
0.0653 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
C |
A |
2: 58,171,711 (GRCm39) |
D295Y |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,062,764 (GRCm39) |
D406G |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,775,979 (GRCm39) |
S1443P |
possibly damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,646,411 (GRCm39) |
K1828I |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,743,236 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,791 (GRCm39) |
L89Q |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,387,913 (GRCm39) |
E3124V |
probably benign |
Het |
| Exo1 |
C |
T |
1: 175,716,327 (GRCm39) |
P148L |
probably damaging |
Het |
| Hps4 |
A |
G |
5: 112,494,527 (GRCm39) |
I37V |
probably damaging |
Het |
| Krt9 |
T |
A |
11: 100,083,942 (GRCm39) |
M30L |
unknown |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Or10ak12 |
T |
G |
4: 118,666,058 (GRCm39) |
Q318H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,451 (GRCm39) |
E15G |
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,844,556 (GRCm39) |
Q1468* |
probably null |
Het |
| Phkb |
A |
G |
8: 86,770,431 (GRCm39) |
K900R |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,715,990 (GRCm39) |
H755Y |
probably benign |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,284 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
C |
A |
5: 110,922,826 (GRCm39) |
M232I |
probably benign |
Het |
| Serpina3a |
C |
A |
12: 104,082,787 (GRCm39) |
Q187K |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,997,573 (GRCm39) |
E465K |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,336 (GRCm39) |
T360A |
probably damaging |
Het |
| Tlk2 |
T |
G |
11: 105,132,417 (GRCm39) |
I217R |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,338 (GRCm39) |
D377G |
probably damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,146,195 (GRCm39) |
D866G |
probably damaging |
Het |
| Tubd1 |
T |
A |
11: 86,446,017 (GRCm39) |
I219N |
probably benign |
Het |
| Ugt3a1 |
C |
A |
15: 9,351,203 (GRCm39) |
P71T |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,535 (GRCm39) |
S3P |
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 |
|
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 |
|
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'- ACCCCATGGTGGCACATTTG -3'
(R):5'- CCAACTCATAAGCAGTAACTGATG -3'
Sequencing Primer
(F):5'- GCATTTTAGGTGATTTACATCGACG -3'
(R):5'- GAATACACAATCCTCTCTCTGTGTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation