Incidental Mutation 'R7257:Efcab5'
ID |
564355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab5
|
Ensembl Gene |
ENSMUSG00000050944 |
Gene Name |
EF-hand calcium binding domain 5 |
Synonyms |
4930563A03Rik |
MMRRC Submission |
045318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R7257 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77028605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 242
(E242V)
|
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: E378V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104037 Gene: ENSMUSG00000050944 AA Change: E378V
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 |
probably damaging
Transcript: ENSMUST00000130901
AA Change: E242V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118152 Gene: ENSMUSG00000050944 AA Change: E242V
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (77/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
T |
6: 88,816,434 (GRCm39) |
V120E |
probably benign |
Het |
Acot11 |
G |
A |
4: 106,615,599 (GRCm39) |
T284M |
probably damaging |
Het |
Adk |
G |
T |
14: 21,102,739 (GRCm39) |
K11N |
probably damaging |
Het |
Akr1c14 |
T |
A |
13: 4,138,966 (GRCm39) |
N316K |
probably benign |
Het |
AL732309.1 |
A |
T |
2: 25,135,851 (GRCm39) |
V121D |
probably benign |
Het |
Amh |
C |
A |
10: 80,642,487 (GRCm39) |
Q257K |
probably benign |
Het |
Antxrl |
T |
G |
14: 33,787,806 (GRCm39) |
H276Q |
probably benign |
Het |
Atp5po |
G |
A |
16: 91,723,755 (GRCm39) |
T105M |
probably damaging |
Het |
Atxn2 |
T |
G |
5: 121,923,880 (GRCm39) |
N734K |
possibly damaging |
Het |
B3gat3 |
T |
A |
19: 8,903,102 (GRCm39) |
V153D |
probably benign |
Het |
Brd2 |
A |
G |
17: 34,332,796 (GRCm39) |
V528A |
probably damaging |
Het |
Camk2g |
T |
C |
14: 20,797,907 (GRCm39) |
S335G |
probably benign |
Het |
Cbln2 |
T |
A |
18: 86,734,859 (GRCm39) |
W211R |
probably damaging |
Het |
Cry2 |
A |
T |
2: 92,243,326 (GRCm39) |
I505N |
possibly damaging |
Het |
Ddx55 |
T |
A |
5: 124,698,784 (GRCm39) |
C249S |
possibly damaging |
Het |
Dglucy |
A |
G |
12: 100,808,997 (GRCm39) |
T232A |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,361,206 (GRCm39) |
Y76H |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,788,443 (GRCm39) |
I114T |
probably damaging |
Het |
Dock7 |
T |
A |
4: 98,861,649 (GRCm39) |
N1356I |
unknown |
Het |
Dock8 |
T |
A |
19: 25,104,449 (GRCm39) |
N710K |
probably benign |
Het |
Dync1i2 |
T |
A |
2: 71,079,700 (GRCm39) |
N391K |
possibly damaging |
Het |
Ect2 |
A |
G |
3: 27,192,684 (GRCm39) |
S420P |
probably damaging |
Het |
Fam83g |
T |
A |
11: 61,575,579 (GRCm39) |
Y74N |
probably damaging |
Het |
Fbxo34 |
T |
A |
14: 47,738,329 (GRCm39) |
|
probably null |
Het |
Flt4 |
A |
G |
11: 49,516,836 (GRCm39) |
T208A |
probably benign |
Het |
Fxyd5 |
T |
A |
7: 30,734,576 (GRCm39) |
H183L |
unknown |
Het |
Gpr150 |
T |
G |
13: 76,204,585 (GRCm39) |
D120A |
probably benign |
Het |
Grm7 |
A |
G |
6: 110,623,079 (GRCm39) |
Y84C |
probably damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,316,405 (GRCm39) |
S562P |
probably damaging |
Het |
Itga7 |
A |
G |
10: 128,780,282 (GRCm39) |
Y530C |
possibly damaging |
Het |
Itpr3 |
T |
A |
17: 27,337,535 (GRCm39) |
D2448E |
probably benign |
Het |
Mmp17 |
C |
A |
5: 129,672,697 (GRCm39) |
H216Q |
probably benign |
Het |
Mns1 |
C |
T |
9: 72,360,097 (GRCm39) |
R416W |
probably damaging |
Het |
Mog |
A |
G |
17: 37,334,019 (GRCm39) |
S25P |
unknown |
Het |
Myh2 |
A |
G |
11: 67,071,976 (GRCm39) |
K568R |
possibly damaging |
Het |
Myh7 |
A |
T |
14: 55,209,947 (GRCm39) |
|
probably null |
Het |
Mymk |
A |
T |
2: 26,957,380 (GRCm39) |
W79R |
probably damaging |
Het |
Ncoa4 |
T |
G |
14: 31,899,326 (GRCm39) |
L623R |
probably damaging |
Het |
Oca2 |
G |
A |
7: 55,929,286 (GRCm39) |
|
probably benign |
Het |
Odam |
A |
C |
5: 88,035,404 (GRCm39) |
S123R |
probably benign |
Het |
Or14c39 |
T |
A |
7: 86,344,012 (GRCm39) |
M116K |
probably damaging |
Het |
Or2w1 |
A |
G |
13: 21,317,427 (GRCm39) |
T161A |
probably benign |
Het |
Or51f1d |
T |
C |
7: 102,700,837 (GRCm39) |
F111L |
probably benign |
Het |
Or5d16 |
A |
G |
2: 87,773,915 (GRCm39) |
F19S |
probably damaging |
Het |
Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
Or6c8b |
C |
T |
10: 128,882,324 (GRCm39) |
V203M |
probably benign |
Het |
Ovch2 |
C |
T |
7: 107,393,640 (GRCm39) |
C162Y |
probably damaging |
Het |
Padi1 |
C |
A |
4: 140,556,782 (GRCm39) |
G142C |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,820,451 (GRCm39) |
I667V |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,883,785 (GRCm39) |
V624E |
probably damaging |
Het |
Phb1 |
A |
T |
11: 95,568,917 (GRCm39) |
E184V |
probably damaging |
Het |
Phlpp2 |
G |
T |
8: 110,666,820 (GRCm39) |
M1116I |
probably benign |
Het |
Pip5kl1 |
T |
C |
2: 32,470,443 (GRCm39) |
|
probably null |
Het |
Pitpnm2 |
T |
A |
5: 124,263,419 (GRCm39) |
I824F |
possibly damaging |
Het |
Pla2g4c |
G |
A |
7: 13,059,669 (GRCm39) |
S2N |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,257,969 (GRCm39) |
|
probably null |
Het |
Pole2 |
T |
C |
12: 69,249,684 (GRCm39) |
D521G |
probably damaging |
Het |
Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
Rapgef2 |
A |
T |
3: 78,989,934 (GRCm39) |
L931Q |
probably damaging |
Het |
Rassf3 |
G |
A |
10: 121,248,924 (GRCm39) |
Q206* |
probably null |
Het |
Rnf123 |
T |
A |
9: 107,946,228 (GRCm39) |
T316S |
probably damaging |
Het |
Rnf138 |
T |
A |
18: 21,141,750 (GRCm39) |
|
probably null |
Het |
Septin3 |
G |
A |
15: 82,173,414 (GRCm39) |
A249T |
probably damaging |
Het |
Slc35a4 |
A |
T |
18: 36,812,669 (GRCm39) |
D3V |
unknown |
Het |
Sltm |
T |
A |
9: 70,451,247 (GRCm39) |
|
probably null |
Het |
Smarca2 |
C |
T |
19: 26,631,864 (GRCm39) |
Q560* |
probably null |
Het |
Tcl1b1 |
A |
T |
12: 105,130,790 (GRCm39) |
D91V |
probably damaging |
Het |
Tirap |
A |
T |
9: 35,100,330 (GRCm39) |
V118E |
probably damaging |
Het |
Tlr5 |
T |
A |
1: 182,801,798 (GRCm39) |
Y367* |
probably null |
Het |
Tmcc1 |
A |
G |
6: 116,084,299 (GRCm39) |
F5L |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,935,475 (GRCm39) |
M2592V |
probably benign |
Het |
Trim66 |
T |
A |
7: 109,059,451 (GRCm39) |
E931V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,571,438 (GRCm39) |
I26485T |
probably damaging |
Het |
Veph1 |
C |
A |
3: 66,065,703 (GRCm39) |
V455L |
probably benign |
Het |
Vmn1r125 |
A |
T |
7: 21,006,750 (GRCm39) |
H216L |
probably damaging |
Het |
Wdr17 |
T |
A |
8: 55,085,522 (GRCm39) |
E1200D |
probably benign |
Het |
Zbtb37 |
T |
A |
1: 160,860,231 (GRCm39) |
N25Y |
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 |
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'- GACCCTCTCTGCTGAGTTTG -3'
(R):5'- AAGGGCCTCGCAAAACATCTG -3'
Sequencing Primer
(F):5'- AGTTTGTTCTACTGCCGAGC -3'
(R):5'- TCTGCTTCAAAACAAGGAGCAAG -3'
|
Posted On |
2019-06-26 |