Incidental Mutation 'R7369:Efcab5'
ID |
572019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab5
|
Ensembl Gene |
ENSMUSG00000050944 |
Gene Name |
EF-hand calcium binding domain 5 |
Synonyms |
4930563A03Rik |
MMRRC Submission |
045453-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R7369 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 77008661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 819
(P819L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108400]
[ENSMUST00000130901]
|
AlphaFold |
A0JP43 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108400
AA Change: P955L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104037 Gene: ENSMUSG00000050944 AA Change: P955L
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
low complexity region
|
210 |
219 |
N/A |
INTRINSIC |
internal_repeat_1
|
250 |
352 |
2.42e-20 |
PROSPERO |
internal_repeat_1
|
354 |
452 |
2.42e-20 |
PROSPERO |
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
coiled coil region
|
749 |
776 |
N/A |
INTRINSIC |
GAF
|
877 |
1066 |
1.78e-2 |
SMART |
low complexity region
|
1235 |
1245 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130901
AA Change: P819L
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118152 Gene: ENSMUSG00000050944 AA Change: P819L
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
83 |
N/A |
INTRINSIC |
internal_repeat_1
|
114 |
216 |
1.89e-19 |
PROSPERO |
internal_repeat_1
|
218 |
316 |
1.89e-19 |
PROSPERO |
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
coiled coil region
|
613 |
640 |
N/A |
INTRINSIC |
GAF
|
741 |
930 |
1.78e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (77/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
C |
T |
7: 29,989,377 (GRCm39) |
L196F |
unknown |
Het |
Ahr |
A |
T |
12: 35,554,659 (GRCm39) |
W487R |
possibly damaging |
Het |
Apaf1 |
A |
G |
10: 90,836,898 (GRCm39) |
S1060P |
probably damaging |
Het |
Atf7 |
G |
T |
15: 102,462,244 (GRCm39) |
P126H |
probably damaging |
Het |
B3gnt5 |
C |
A |
16: 19,588,410 (GRCm39) |
Q210K |
probably benign |
Het |
Begain |
T |
C |
12: 108,999,853 (GRCm39) |
Y306C |
possibly damaging |
Het |
Car5a |
T |
C |
8: 122,650,573 (GRCm39) |
K157R |
probably benign |
Het |
Car5b |
A |
C |
X: 162,797,836 (GRCm39) |
S35R |
probably benign |
Het |
Cdh6 |
A |
G |
15: 13,042,724 (GRCm39) |
V478A |
probably damaging |
Het |
Cdyl |
A |
G |
13: 35,999,992 (GRCm39) |
E91G |
probably damaging |
Het |
Cep135 |
A |
C |
5: 76,741,100 (GRCm39) |
K59Q |
possibly damaging |
Het |
Clec2m |
T |
A |
6: 129,308,496 (GRCm39) |
Q11L |
possibly damaging |
Het |
Cnot3 |
T |
A |
7: 3,656,330 (GRCm39) |
D205E |
possibly damaging |
Het |
Dgkd |
G |
A |
1: 87,849,344 (GRCm39) |
G379R |
probably damaging |
Het |
Dppa1 |
T |
A |
11: 46,506,944 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
T |
13: 38,381,501 (GRCm39) |
V2749F |
possibly damaging |
Het |
E2f4 |
A |
G |
8: 106,026,966 (GRCm39) |
K177E |
probably benign |
Het |
Ercc5 |
T |
A |
1: 44,220,020 (GRCm39) |
S1097R |
probably benign |
Het |
Erp44 |
T |
C |
4: 48,218,183 (GRCm39) |
N162S |
probably benign |
Het |
Evl |
A |
G |
12: 108,652,824 (GRCm39) |
Y423C |
unknown |
Het |
Fam78a |
T |
A |
2: 31,959,699 (GRCm39) |
N137I |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,164,008 (GRCm39) |
N374D |
possibly damaging |
Het |
Fcrla |
T |
G |
1: 170,749,886 (GRCm39) |
D57A |
probably benign |
Het |
Gm7145 |
A |
T |
1: 117,913,838 (GRCm39) |
H240L |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,408,965 (GRCm39) |
N1549K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 87,048,391 (GRCm39) |
R9H |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,160,300 (GRCm39) |
|
probably null |
Het |
Lce1d |
G |
A |
3: 92,593,390 (GRCm39) |
Q8* |
probably null |
Het |
Lcn4 |
T |
C |
2: 26,557,906 (GRCm39) |
H180R |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,359,301 (GRCm39) |
Y283F |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,172,051 (GRCm39) |
R1646K |
|
Het |
Map3k21 |
C |
A |
8: 126,637,855 (GRCm39) |
A147E |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,338,454 (GRCm39) |
S11P |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,773,375 (GRCm39) |
F5518L |
probably damaging |
Het |
Msh3 |
T |
A |
13: 92,435,770 (GRCm39) |
T510S |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,111,524 (GRCm39) |
Q1654H |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,968,747 (GRCm39) |
V506A |
probably benign |
Het |
Nfkbiz |
A |
G |
16: 55,642,209 (GRCm39) |
S70P |
probably damaging |
Het |
Nmi |
T |
C |
2: 51,840,096 (GRCm39) |
D215G |
possibly damaging |
Het |
Nphp3 |
T |
C |
9: 103,895,449 (GRCm39) |
S496P |
probably damaging |
Het |
Nrp1 |
T |
A |
8: 129,158,396 (GRCm39) |
C228S |
probably damaging |
Het |
Or6c5c |
A |
T |
10: 129,299,390 (GRCm39) |
M282L |
probably benign |
Het |
Pcdh9 |
C |
A |
14: 94,123,803 (GRCm39) |
R789L |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,769,503 (GRCm39) |
T105S |
probably benign |
Het |
Polr2a |
A |
C |
11: 69,636,803 (GRCm39) |
S383A |
probably benign |
Het |
Prr35 |
G |
A |
17: 26,166,934 (GRCm39) |
S201L |
probably damaging |
Het |
Psd3 |
T |
A |
8: 68,356,818 (GRCm39) |
H634L |
possibly damaging |
Het |
Ptgr2 |
T |
G |
12: 84,339,080 (GRCm39) |
|
probably benign |
Het |
Ptk6 |
A |
G |
2: 180,840,254 (GRCm39) |
Y251H |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,321,294 (GRCm39) |
T1251A |
|
Het |
Rtkn2 |
A |
G |
10: 67,877,259 (GRCm39) |
K443E |
probably damaging |
Het |
Rundc3a |
T |
A |
11: 102,290,721 (GRCm39) |
L268Q |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,802,879 (GRCm39) |
E138G |
probably benign |
Het |
Shroom1 |
A |
T |
11: 53,356,075 (GRCm39) |
D375V |
probably benign |
Het |
Siglecf |
A |
G |
7: 43,001,241 (GRCm39) |
T70A |
probably damaging |
Het |
Slc20a2 |
A |
T |
8: 23,051,416 (GRCm39) |
E483V |
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,593,394 (GRCm39) |
V148A |
probably benign |
Het |
Sort1 |
G |
A |
3: 108,258,996 (GRCm39) |
G676D |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,584,293 (GRCm39) |
S1581G |
probably benign |
Het |
Stx6 |
C |
T |
1: 155,073,130 (GRCm39) |
R214* |
probably null |
Het |
Stxbp5l |
A |
G |
16: 36,954,703 (GRCm39) |
I950T |
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,013,239 (GRCm39) |
C660S |
possibly damaging |
Het |
Tgm4 |
T |
A |
9: 122,885,749 (GRCm39) |
|
probably null |
Het |
Tmem67 |
T |
C |
4: 12,053,535 (GRCm39) |
Y671C |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,719,717 (GRCm39) |
|
probably null |
Het |
Tut7 |
A |
G |
13: 59,929,867 (GRCm39) |
I1458T |
possibly damaging |
Het |
Uba2 |
A |
G |
7: 33,850,239 (GRCm39) |
S405P |
possibly damaging |
Het |
Usp34 |
T |
C |
11: 23,382,361 (GRCm39) |
I2043T |
|
Het |
Vmn1r12 |
T |
A |
6: 57,136,683 (GRCm39) |
I260N |
possibly damaging |
Het |
Vmn1r172 |
C |
T |
7: 23,360,030 (GRCm39) |
T305I |
unknown |
Het |
Vmn2r24 |
T |
C |
6: 123,792,638 (GRCm39) |
V655A |
probably damaging |
Het |
Wdr33 |
T |
C |
18: 32,019,719 (GRCm39) |
S464P |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,750 (GRCm39) |
C217S |
probably damaging |
Het |
Zfp760 |
A |
G |
17: 21,942,214 (GRCm39) |
E463G |
probably benign |
Het |
Zhx1 |
A |
G |
15: 57,916,696 (GRCm39) |
Y517H |
probably damaging |
Het |
|
Other mutations in Efcab5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00663:Efcab5
|
APN |
11 |
77,027,862 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01343:Efcab5
|
APN |
11 |
77,020,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02190:Efcab5
|
APN |
11 |
77,012,140 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02270:Efcab5
|
APN |
11 |
76,995,139 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02572:Efcab5
|
APN |
11 |
77,028,714 (GRCm39) |
nonsense |
probably null |
|
IGL02653:Efcab5
|
APN |
11 |
77,022,848 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02818:Efcab5
|
APN |
11 |
76,996,174 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03068:Efcab5
|
APN |
11 |
76,994,927 (GRCm39) |
missense |
probably benign |
|
IGL03222:Efcab5
|
APN |
11 |
77,028,193 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03226:Efcab5
|
APN |
11 |
77,028,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03257:Efcab5
|
APN |
11 |
77,079,596 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4131001:Efcab5
|
UTSW |
11 |
77,028,517 (GRCm39) |
|
|
|
PIT4418001:Efcab5
|
UTSW |
11 |
77,022,877 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0276:Efcab5
|
UTSW |
11 |
77,031,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Efcab5
|
UTSW |
11 |
77,020,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R0277:Efcab5
|
UTSW |
11 |
77,031,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R0284:Efcab5
|
UTSW |
11 |
76,994,353 (GRCm39) |
intron |
probably benign |
|
R0386:Efcab5
|
UTSW |
11 |
77,063,204 (GRCm39) |
missense |
probably benign |
0.30 |
R0386:Efcab5
|
UTSW |
11 |
77,031,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R0966:Efcab5
|
UTSW |
11 |
77,031,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R0968:Efcab5
|
UTSW |
11 |
77,031,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Efcab5
|
UTSW |
11 |
76,996,204 (GRCm39) |
missense |
probably benign |
0.09 |
R1673:Efcab5
|
UTSW |
11 |
77,042,679 (GRCm39) |
missense |
probably damaging |
0.99 |
R1842:Efcab5
|
UTSW |
11 |
77,025,701 (GRCm39) |
missense |
probably benign |
0.00 |
R1848:Efcab5
|
UTSW |
11 |
76,994,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Efcab5
|
UTSW |
11 |
77,063,147 (GRCm39) |
missense |
probably benign |
0.06 |
R3713:Efcab5
|
UTSW |
11 |
77,007,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R4012:Efcab5
|
UTSW |
11 |
77,008,656 (GRCm39) |
missense |
probably damaging |
0.98 |
R4020:Efcab5
|
UTSW |
11 |
76,994,930 (GRCm39) |
missense |
probably benign |
0.33 |
R4391:Efcab5
|
UTSW |
11 |
76,981,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R4392:Efcab5
|
UTSW |
11 |
76,981,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R4692:Efcab5
|
UTSW |
11 |
77,004,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4929:Efcab5
|
UTSW |
11 |
76,994,209 (GRCm39) |
missense |
probably benign |
0.36 |
R4985:Efcab5
|
UTSW |
11 |
77,029,055 (GRCm39) |
missense |
probably damaging |
0.98 |
R4988:Efcab5
|
UTSW |
11 |
77,028,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R5246:Efcab5
|
UTSW |
11 |
77,079,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5260:Efcab5
|
UTSW |
11 |
77,028,477 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5387:Efcab5
|
UTSW |
11 |
77,025,668 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5516:Efcab5
|
UTSW |
11 |
77,079,615 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5535:Efcab5
|
UTSW |
11 |
77,042,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R5694:Efcab5
|
UTSW |
11 |
77,079,701 (GRCm39) |
missense |
probably benign |
0.09 |
R5922:Efcab5
|
UTSW |
11 |
77,079,570 (GRCm39) |
missense |
probably benign |
0.44 |
R6030:Efcab5
|
UTSW |
11 |
77,012,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Efcab5
|
UTSW |
11 |
77,012,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R6183:Efcab5
|
UTSW |
11 |
77,028,084 (GRCm39) |
missense |
probably benign |
0.04 |
R6437:Efcab5
|
UTSW |
11 |
77,028,728 (GRCm39) |
missense |
probably benign |
0.25 |
R6442:Efcab5
|
UTSW |
11 |
76,996,260 (GRCm39) |
nonsense |
probably null |
|
R6592:Efcab5
|
UTSW |
11 |
77,004,436 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6769:Efcab5
|
UTSW |
11 |
76,996,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R7257:Efcab5
|
UTSW |
11 |
77,028,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R7285:Efcab5
|
UTSW |
11 |
77,029,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7285:Efcab5
|
UTSW |
11 |
77,028,170 (GRCm39) |
missense |
probably benign |
|
R7350:Efcab5
|
UTSW |
11 |
77,028,387 (GRCm39) |
missense |
probably benign |
0.05 |
R7760:Efcab5
|
UTSW |
11 |
77,042,752 (GRCm39) |
missense |
probably benign |
0.31 |
R8213:Efcab5
|
UTSW |
11 |
77,006,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R8690:Efcab5
|
UTSW |
11 |
76,994,115 (GRCm39) |
missense |
probably damaging |
0.98 |
R9294:Efcab5
|
UTSW |
11 |
77,012,064 (GRCm39) |
missense |
probably benign |
0.03 |
R9310:Efcab5
|
UTSW |
11 |
77,004,531 (GRCm39) |
missense |
probably benign |
0.23 |
R9324:Efcab5
|
UTSW |
11 |
77,004,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9404:Efcab5
|
UTSW |
11 |
77,022,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R9405:Efcab5
|
UTSW |
11 |
77,022,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R9407:Efcab5
|
UTSW |
11 |
77,022,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R9509:Efcab5
|
UTSW |
11 |
76,994,977 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9562:Efcab5
|
UTSW |
11 |
77,022,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R9651:Efcab5
|
UTSW |
11 |
77,022,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R9748:Efcab5
|
UTSW |
11 |
77,007,022 (GRCm39) |
nonsense |
probably null |
|
X0061:Efcab5
|
UTSW |
11 |
77,007,060 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Efcab5
|
UTSW |
11 |
77,022,965 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCCAACTTACTTCAGAAGGC -3'
(R):5'- CGAAGCTGGTGACAAATACATG -3'
Sequencing Primer
(F):5'- CATGGTGGGACATACCTGTAACC -3'
(R):5'- CTGGTGACAAATACATGGTCAAAAG -3'
|
Posted On |
2019-09-13 |