Incidental Mutation 'R0386:Efcab5'
| ID |
31301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab5
|
| Ensembl Gene |
ENSMUSG00000050944 |
| Gene Name |
EF-hand calcium binding domain 5 |
| Synonyms |
4930563A03Rik |
| MMRRC Submission |
038592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77031749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 42
(R42W)
|
| 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: R178W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: R178W
| 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: R42W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: R42W
| 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
|
| Meta Mutation Damage Score |
0.3850 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,044,308 (GRCm39) |
V194A |
probably damaging |
Het |
| Adamts13 |
G |
A |
2: 26,876,691 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
C |
19: 8,988,508 (GRCm39) |
M3264T |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,906,335 (GRCm39) |
C1409S |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,338,687 (GRCm39) |
V3161A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,383,727 (GRCm39) |
Y2983F |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,060,107 (GRCm39) |
L2774F |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,256,917 (GRCm39) |
T4398S |
probably damaging |
Het |
| Elavl4 |
A |
G |
4: 110,063,902 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,213 (GRCm39) |
A1214T |
probably benign |
Het |
| Fn1 |
G |
T |
1: 71,634,945 (GRCm39) |
T2127N |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,222,629 (GRCm39) |
S391R |
possibly damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,266,150 (GRCm39) |
Y269F |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,847,868 (GRCm39) |
S259P |
possibly damaging |
Het |
| Gm16332 |
A |
G |
1: 139,851,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm16380 |
T |
A |
9: 53,791,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9869 |
A |
T |
9: 60,745,344 (GRCm39) |
|
probably benign |
Het |
| Gm9936 |
G |
A |
5: 114,995,192 (GRCm39) |
Q142* |
probably null |
Het |
| Hmbs |
T |
C |
9: 44,248,305 (GRCm39) |
Y260C |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,784 (GRCm39) |
C193* |
probably null |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Lce1j |
T |
C |
3: 92,696,695 (GRCm39) |
K28E |
unknown |
Het |
| Lpgat1 |
C |
T |
1: 191,451,460 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,882,799 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
A |
G |
9: 64,547,360 (GRCm39) |
N235D |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,003 (GRCm39) |
|
probably null |
Het |
| Nr2c2ap |
A |
G |
8: 70,584,237 (GRCm39) |
D9G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,027,165 (GRCm39) |
T13A |
probably damaging |
Het |
| Ofcc1 |
A |
C |
13: 40,367,950 (GRCm39) |
L188* |
probably null |
Het |
| Oma1 |
A |
T |
4: 103,182,398 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
A |
T |
1: 173,877,965 (GRCm39) |
T9S |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,217 (GRCm39) |
E270G |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,769,060 (GRCm39) |
F1642S |
probably damaging |
Het |
| Pglyrp2 |
A |
G |
17: 32,639,836 (GRCm39) |
M1T |
probably null |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prdm10 |
C |
A |
9: 31,227,596 (GRCm39) |
T67K |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,754,852 (GRCm39) |
H1193Q |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,232 (GRCm39) |
S291P |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,784,290 (GRCm39) |
T150A |
probably damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,117,361 (GRCm39) |
Y170F |
probably benign |
Het |
| Sema4a |
C |
T |
3: 88,344,107 (GRCm39) |
V715I |
possibly damaging |
Het |
| Smgc |
G |
A |
15: 91,738,841 (GRCm39) |
A500T |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,584,148 (GRCm39) |
V1639A |
probably damaging |
Het |
| Srrm4 |
A |
G |
5: 116,620,437 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
G |
A |
16: 57,009,636 (GRCm39) |
H418Y |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,420,159 (GRCm39) |
L10P |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,042,621 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
G |
T |
2: 121,035,424 (GRCm39) |
T1609K |
probably damaging |
Het |
| Tut1 |
A |
G |
19: 8,932,919 (GRCm39) |
N84S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,593,287 (GRCm39) |
G282R |
probably damaging |
Het |
| Usp19 |
A |
T |
9: 108,376,910 (GRCm39) |
D1160V |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,933 (GRCm39) |
V1872A |
probably damaging |
Het |
| Zfp276 |
C |
A |
8: 123,986,242 (GRCm39) |
Y386* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATTGGACTACAACACCCAGC -3'
(R):5'- TTCAACAAGTCGTGCCAGTCCC -3'
Sequencing Primer
(F):5'- AGCTTCAGCTCCAGGACATTC -3'
(R):5'- CCTACGGGCAAGATATAGCTTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation