Incidental Mutation 'IGL02572:Efcab5'
ID |
299020 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efcab5
|
Ensembl Gene |
ENSMUSG00000050944 |
Gene Name |
EF-hand calcium binding domain 5 |
Synonyms |
4930563A03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL02572
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 77028714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 206
(R206*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108400]
[ENSMUST00000130901]
|
AlphaFold |
A0JP43 |
Predicted Effect |
probably null
Transcript: ENSMUST00000108400
AA Change: R342*
|
SMART Domains |
Protein: ENSMUSP00000104037 Gene: ENSMUSG00000050944 AA Change: R342*
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 null
Transcript: ENSMUST00000130901
AA Change: R206*
|
SMART Domains |
Protein: ENSMUSP00000118152 Gene: ENSMUSG00000050944 AA Change: R206*
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: ENSMUST00000148985
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
T |
C |
1: 85,652,892 (GRCm39) |
N92S |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,323,329 (GRCm39) |
L99P |
possibly damaging |
Het |
Adam19 |
T |
A |
11: 46,022,548 (GRCm39) |
Y500* |
probably null |
Het |
Amy1 |
A |
T |
3: 113,358,722 (GRCm39) |
|
probably benign |
Het |
Aox3 |
T |
C |
1: 58,197,526 (GRCm39) |
I624T |
probably damaging |
Het |
Atad3a |
C |
T |
4: 155,838,041 (GRCm39) |
D244N |
possibly damaging |
Het |
Atp5mf |
C |
A |
5: 145,124,047 (GRCm39) |
|
probably benign |
Het |
Bbof1 |
G |
A |
12: 84,475,139 (GRCm39) |
D443N |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,978,573 (GRCm39) |
Q914* |
probably null |
Het |
C330011M18Rik |
A |
G |
8: 84,793,208 (GRCm39) |
|
probably benign |
Het |
Cgref1 |
A |
G |
5: 31,090,911 (GRCm39) |
V301A |
probably benign |
Het |
Coa6 |
T |
C |
8: 127,149,480 (GRCm39) |
Y19H |
probably damaging |
Het |
Cop1 |
T |
A |
1: 159,136,448 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
T |
C |
4: 89,579,795 (GRCm39) |
S252P |
probably benign |
Het |
Dnaaf5 |
T |
G |
5: 139,170,384 (GRCm39) |
S484A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,324,935 (GRCm39) |
S433C |
probably damaging |
Het |
Epop |
A |
T |
11: 97,519,027 (GRCm39) |
S361T |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,871,802 (GRCm39) |
T3530S |
probably benign |
Het |
Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
Fsip2 |
T |
G |
2: 82,822,347 (GRCm39) |
S6027A |
probably benign |
Het |
Galnt14 |
A |
G |
17: 73,842,262 (GRCm39) |
L209P |
probably damaging |
Het |
Hif3a |
C |
A |
7: 16,784,513 (GRCm39) |
R25L |
probably null |
Het |
Hsf5 |
A |
G |
11: 87,522,521 (GRCm39) |
|
probably benign |
Het |
Il22ra2 |
A |
T |
10: 19,502,492 (GRCm39) |
T104S |
probably benign |
Het |
Klrk1 |
A |
G |
6: 129,592,316 (GRCm39) |
S138P |
probably damaging |
Het |
Lrp5 |
G |
T |
19: 3,664,283 (GRCm39) |
Q815K |
probably benign |
Het |
Morn4 |
A |
G |
19: 42,064,886 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
A |
7: 106,781,929 (GRCm39) |
Y375* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,443,943 (GRCm39) |
M1714K |
probably damaging |
Het |
Or2aj6 |
T |
A |
16: 19,443,848 (GRCm39) |
M1L |
probably benign |
Het |
Or5aq7 |
G |
A |
2: 86,938,710 (GRCm39) |
T7I |
possibly damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,735 (GRCm39) |
D17V |
possibly damaging |
Het |
Pappa2 |
C |
T |
1: 158,678,786 (GRCm39) |
A877T |
probably benign |
Het |
Pcsk2 |
G |
A |
2: 143,532,262 (GRCm39) |
A137T |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,212,044 (GRCm39) |
V2054A |
probably benign |
Het |
Rad52 |
A |
G |
6: 119,892,188 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rusf1 |
A |
T |
7: 127,889,752 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,519,740 (GRCm39) |
|
probably benign |
Het |
Scrn1 |
C |
T |
6: 54,489,186 (GRCm39) |
D312N |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,471,109 (GRCm39) |
Q352R |
probably benign |
Het |
Slc25a28 |
A |
G |
19: 43,652,885 (GRCm39) |
Y259H |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,768,216 (GRCm39) |
M151V |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stra8 |
G |
A |
6: 34,916,094 (GRCm39) |
D280N |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,897,275 (GRCm39) |
D744E |
possibly damaging |
Het |
Tiparp |
A |
G |
3: 65,439,310 (GRCm39) |
T27A |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,333,818 (GRCm39) |
F99S |
probably damaging |
Het |
Tmod3 |
T |
C |
9: 75,416,667 (GRCm39) |
T222A |
probably benign |
Het |
Tnn |
A |
G |
1: 159,913,677 (GRCm39) |
I1272T |
probably damaging |
Het |
Tnpo1 |
A |
T |
13: 98,985,667 (GRCm39) |
I829N |
probably damaging |
Het |
Trpm5 |
A |
T |
7: 142,641,613 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,598,215 (GRCm39) |
V19566A |
probably damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,040 (GRCm39) |
D81G |
probably damaging |
Het |
Zdhhc20 |
A |
G |
14: 58,127,564 (GRCm39) |
V25A |
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |