Incidental Mutation 'R4392:Efcab5'
ID |
326427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab5
|
Ensembl Gene |
ENSMUSG00000050944 |
Gene Name |
EF-hand calcium binding domain 5 |
Synonyms |
4930563A03Rik |
MMRRC Submission |
041127-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R4392 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76981284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 1354
(N1354I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108400]
[ENSMUST00000130901]
|
AlphaFold |
A0JP43 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108400
AA Change: N1354I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104037 Gene: ENSMUSG00000050944 AA Change: N1354I
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: T973S
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118152 Gene: ENSMUSG00000050944 AA Change: T973S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151731
|
Meta Mutation Damage Score |
0.2326 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
Validation Efficiency |
95% (69/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,822,435 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
C |
11: 9,259,034 (GRCm39) |
K2920T |
possibly damaging |
Het |
Amy2b |
T |
G |
3: 113,056,724 (GRCm39) |
|
noncoding transcript |
Het |
Anapc1 |
T |
C |
2: 128,518,169 (GRCm39) |
|
probably null |
Het |
Bmp7 |
T |
G |
2: 172,758,335 (GRCm39) |
D178A |
probably benign |
Het |
Brsk1 |
T |
A |
7: 4,701,749 (GRCm39) |
I170N |
probably damaging |
Het |
Bub3 |
C |
T |
7: 131,168,064 (GRCm39) |
A187V |
probably benign |
Het |
Cacna2d2 |
A |
G |
9: 107,277,479 (GRCm39) |
H71R |
possibly damaging |
Het |
Cdrt4 |
A |
T |
11: 62,842,179 (GRCm39) |
K20N |
probably benign |
Het |
Clec12a |
A |
T |
6: 129,330,427 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,569,770 (GRCm39) |
Y1600F |
probably damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,728,700 (GRCm39) |
I57N |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,059,917 (GRCm39) |
L223P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,289,375 (GRCm39) |
R1188H |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,385,196 (GRCm39) |
|
probably benign |
Het |
Eif4b |
T |
A |
15: 101,995,076 (GRCm39) |
|
probably null |
Het |
Erlec1 |
A |
G |
11: 30,893,697 (GRCm39) |
|
probably null |
Het |
Esp24 |
T |
C |
17: 39,350,968 (GRCm39) |
|
probably benign |
Het |
Esp34 |
T |
C |
17: 38,870,382 (GRCm39) |
V24A |
possibly damaging |
Het |
Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
Foxc2 |
T |
C |
8: 121,844,191 (GRCm39) |
S280P |
probably damaging |
Het |
Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,068,002 (GRCm39) |
F467S |
probably damaging |
Het |
Grwd1 |
C |
T |
7: 45,477,204 (GRCm39) |
G228S |
probably damaging |
Het |
Gtf2i |
T |
C |
5: 134,289,483 (GRCm39) |
E399G |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Ift56 |
A |
G |
6: 38,358,492 (GRCm39) |
|
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,585,880 (GRCm39) |
Y83H |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,069,630 (GRCm39) |
T413A |
probably damaging |
Het |
Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
Mmrn2 |
T |
A |
14: 34,119,573 (GRCm39) |
L184H |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,187,311 (GRCm39) |
R133C |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,235,707 (GRCm39) |
|
probably null |
Het |
Nkain3 |
C |
A |
4: 20,282,985 (GRCm39) |
R116L |
possibly damaging |
Het |
Nxph2 |
A |
C |
2: 23,290,284 (GRCm39) |
Q212P |
probably damaging |
Het |
Or4f7d-ps1 |
T |
C |
2: 111,674,690 (GRCm39) |
|
noncoding transcript |
Het |
Or4k15c |
A |
G |
14: 50,322,060 (GRCm39) |
F26S |
probably benign |
Het |
Otog |
T |
C |
7: 45,934,548 (GRCm39) |
Y1369H |
probably damaging |
Het |
Prl |
A |
G |
13: 27,248,334 (GRCm39) |
I131V |
possibly damaging |
Het |
Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
Rad18 |
A |
T |
6: 112,670,490 (GRCm39) |
C25S |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,189,655 (GRCm39) |
T678A |
probably damaging |
Het |
Scaper |
T |
A |
9: 55,765,399 (GRCm39) |
E557V |
probably damaging |
Het |
Scube3 |
C |
T |
17: 28,383,762 (GRCm39) |
P511L |
probably null |
Het |
Sgpl1 |
A |
G |
10: 60,940,231 (GRCm39) |
|
probably benign |
Het |
Slc10a1 |
C |
A |
12: 81,014,578 (GRCm39) |
E47D |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,117,896 (GRCm39) |
N369S |
probably damaging |
Het |
Sstr5 |
T |
C |
17: 25,710,198 (GRCm39) |
T344A |
probably benign |
Het |
Tgm4 |
C |
T |
9: 122,895,817 (GRCm39) |
T631I |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,821,326 (GRCm39) |
Y457H |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,637,429 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
T |
2: 126,690,458 (GRCm39) |
W207R |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Usp2 |
A |
T |
9: 44,002,556 (GRCm39) |
H384L |
probably damaging |
Het |
Vmn2r27 |
C |
T |
6: 124,207,135 (GRCm39) |
V169I |
probably benign |
Het |
Vopp1 |
A |
C |
6: 57,739,461 (GRCm39) |
F29C |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,741,860 (GRCm39) |
D953G |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,287,707 (GRCm39) |
C419* |
probably null |
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 |
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 |
R7369:Efcab5
|
UTSW |
11 |
77,008,661 (GRCm39) |
missense |
possibly damaging |
0.60 |
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'- TGTCCCGACACAGTACCAG -3'
(R):5'- TGATGTATGATCCCATTACATGAGA -3'
Sequencing Primer
(F):5'- GACACAGTACCAGTCCTTAAAGTTTC -3'
(R):5'- GATTCACAACATAGCTAATGAGT -3'
|
Posted On |
2015-07-06 |