Incidental Mutation 'R3713:Efcab5'
| ID |
259761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab5
|
| Ensembl Gene |
ENSMUSG00000050944 |
| Gene Name |
EF-hand calcium binding domain 5 |
| Synonyms |
4930563A03Rik |
| MMRRC Submission |
040706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R3713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77089915-77188968 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77116182 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 872
(L872Q)
|
| 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: L1008Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: L1008Q
| 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: L872Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: L872Q
| 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 |
0.4877 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,627,193 (GRCm38) |
M137V |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,955,190 (GRCm38) |
I381N |
probably benign |
Het |
| Abcd4 |
C |
T |
12: 84,611,759 (GRCm38) |
M223I |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 42,713,088 (GRCm38) |
V164A |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 133,065,986 (GRCm38) |
A1513T |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,586,181 (GRCm38) |
M168T |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,056,215 (GRCm38) |
T196I |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,118,669 (GRCm38) |
|
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,667,532 (GRCm38) |
E1042G |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 118,047,440 (GRCm38) |
D8G |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,764,193 (GRCm38) |
T302A |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,760,357 (GRCm38) |
I110N |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 (GRCm38) |
|
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,759,338 (GRCm38) |
S762N |
possibly damaging |
Het |
| Cecr2 |
T |
C |
6: 120,758,260 (GRCm38) |
L819P |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,786,075 (GRCm38) |
A261S |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,471,790 (GRCm38) |
|
probably benign |
Het |
| Col7a1 |
G |
T |
9: 108,964,440 (GRCm38) |
G1357* |
probably null |
Het |
| Cux1 |
A |
G |
5: 136,565,543 (GRCm38) |
|
probably benign |
Het |
| Cwh43 |
A |
T |
5: 73,438,492 (GRCm38) |
I535F |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,542,689 (GRCm38) |
M1K |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,812,790 (GRCm38) |
V2081A |
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,990,518 (GRCm38) |
Y163C |
probably damaging |
Het |
| Fam221a |
T |
C |
6: 49,372,614 (GRCm38) |
Y38H |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,210,890 (GRCm38) |
M1T |
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,092 (GRCm38) |
T26I |
possibly damaging |
Het |
| Galp |
A |
T |
7: 6,213,837 (GRCm38) |
D72V |
probably damaging |
Het |
| Gm9843 |
A |
G |
16: 76,403,531 (GRCm38) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 110,646,348 (GRCm38) |
V161F |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,692,995 (GRCm38) |
Y98H |
probably damaging |
Het |
| Lrrc63 |
T |
G |
14: 75,107,336 (GRCm38) |
Y437S |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,446,841 (GRCm38) |
E448G |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,668,360 (GRCm38) |
H404R |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,608,950 (GRCm38) |
R773L |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,943,649 (GRCm38) |
I1045V |
probably benign |
Het |
| Mroh3 |
T |
C |
1: 136,185,976 (GRCm38) |
T692A |
probably benign |
Het |
| Myo15 |
A |
T |
11: 60,479,231 (GRCm38) |
E939V |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,161,902 (GRCm38) |
F542S |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,581,428 (GRCm38) |
Y73C |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,561,505 (GRCm38) |
H354L |
possibly damaging |
Het |
| Neil1 |
A |
T |
9: 57,146,970 (GRCm38) |
V22E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 23,039,937 (GRCm38) |
I36V |
probably damaging |
Het |
| Nprl3 |
G |
A |
11: 32,255,464 (GRCm38) |
T111I |
probably damaging |
Het |
| Olfr1184 |
C |
A |
2: 88,487,443 (GRCm38) |
T237N |
probably damaging |
Het |
| Olfr361 |
A |
G |
2: 37,085,505 (GRCm38) |
M81T |
possibly damaging |
Het |
| Olfr385 |
A |
T |
11: 73,588,905 (GRCm38) |
Y278N |
probably damaging |
Het |
| Pald1 |
G |
A |
10: 61,342,365 (GRCm38) |
T624I |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,443,733 (GRCm38) |
P388L |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,707,923 (GRCm38) |
V232A |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,423,062 (GRCm38) |
I388V |
probably damaging |
Het |
| Phactr2 |
C |
A |
10: 13,388,732 (GRCm38) |
|
probably benign |
Het |
| Prdx5 |
T |
C |
19: 6,908,109 (GRCm38) |
D56G |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,571,970 (GRCm38) |
I350N |
probably damaging |
Het |
| Rangap1 |
C |
A |
15: 81,710,460 (GRCm38) |
E389D |
probably benign |
Het |
| Reln |
A |
G |
5: 21,904,734 (GRCm38) |
V3126A |
probably damaging |
Het |
| Rpl21 |
G |
A |
5: 146,835,037 (GRCm38) |
G59S |
possibly damaging |
Het |
| Rsph6a |
G |
A |
7: 19,057,550 (GRCm38) |
V215M |
probably damaging |
Het |
| Smcp |
T |
C |
3: 92,584,124 (GRCm38) |
K139E |
unknown |
Het |
| Stag1 |
A |
G |
9: 100,889,618 (GRCm38) |
T699A |
probably benign |
Het |
| Tarsl2 |
G |
A |
7: 65,688,952 (GRCm38) |
|
probably null |
Het |
| Tle1 |
G |
T |
4: 72,126,422 (GRCm38) |
H459Q |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,741,266 (GRCm38) |
V26428I |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,731,019 (GRCm38) |
P27302S |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,949,319 (GRCm38) |
E656G |
probably benign |
Het |
| Vmn1r218 |
A |
T |
13: 23,136,911 (GRCm38) |
N63Y |
probably damaging |
Het |
| Vmn1r79 |
A |
G |
7: 12,176,212 (GRCm38) |
N40S |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,027,648 (GRCm38) |
D1107G |
possibly damaging |
Het |
| Zfp101 |
A |
G |
17: 33,381,906 (GRCm38) |
M292T |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 24,261,845 (GRCm38) |
C620* |
probably null |
Het |
| Zscan4b |
T |
C |
7: 10,901,891 (GRCm38) |
T170A |
probably benign |
Het |
|
| Other mutations in Efcab5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Efcab5
|
APN |
11 |
77,137,036 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01343:Efcab5
|
APN |
11 |
77,129,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02190:Efcab5
|
APN |
11 |
77,121,314 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02270:Efcab5
|
APN |
11 |
77,104,313 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02572:Efcab5
|
APN |
11 |
77,137,888 (GRCm38) |
nonsense |
probably null |
|
|
IGL02653:Efcab5
|
APN |
11 |
77,132,022 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02818:Efcab5
|
APN |
11 |
77,105,348 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03068:Efcab5
|
APN |
11 |
77,104,101 (GRCm38) |
missense |
probably benign |
|
|
IGL03222:Efcab5
|
APN |
11 |
77,137,367 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL03226:Efcab5
|
APN |
11 |
77,137,675 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03257:Efcab5
|
APN |
11 |
77,188,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4131001:Efcab5
|
UTSW |
11 |
77,137,691 (GRCm38) |
|
|
|
|
PIT4418001:Efcab5
|
UTSW |
11 |
77,132,051 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0276:Efcab5
|
UTSW |
11 |
77,140,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0276:Efcab5
|
UTSW |
11 |
77,129,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0277:Efcab5
|
UTSW |
11 |
77,140,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0284:Efcab5
|
UTSW |
11 |
77,103,527 (GRCm38) |
intron |
probably benign |
|
|
R0386:Efcab5
|
UTSW |
11 |
77,172,378 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0386:Efcab5
|
UTSW |
11 |
77,140,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0966:Efcab5
|
UTSW |
11 |
77,140,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0968:Efcab5
|
UTSW |
11 |
77,140,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1433:Efcab5
|
UTSW |
11 |
77,105,378 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1673:Efcab5
|
UTSW |
11 |
77,151,853 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1842:Efcab5
|
UTSW |
11 |
77,134,875 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1848:Efcab5
|
UTSW |
11 |
77,103,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2069:Efcab5
|
UTSW |
11 |
77,172,321 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4012:Efcab5
|
UTSW |
11 |
77,117,830 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4020:Efcab5
|
UTSW |
11 |
77,104,104 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4391:Efcab5
|
UTSW |
11 |
77,090,458 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4392:Efcab5
|
UTSW |
11 |
77,090,458 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4692:Efcab5
|
UTSW |
11 |
77,113,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4929:Efcab5
|
UTSW |
11 |
77,103,383 (GRCm38) |
missense |
probably benign |
0.36 |
|
R4985:Efcab5
|
UTSW |
11 |
77,138,229 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4988:Efcab5
|
UTSW |
11 |
77,137,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5246:Efcab5
|
UTSW |
11 |
77,188,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5260:Efcab5
|
UTSW |
11 |
77,137,651 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5387:Efcab5
|
UTSW |
11 |
77,134,842 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5516:Efcab5
|
UTSW |
11 |
77,188,789 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5535:Efcab5
|
UTSW |
11 |
77,151,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5694:Efcab5
|
UTSW |
11 |
77,188,875 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5922:Efcab5
|
UTSW |
11 |
77,188,744 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6030:Efcab5
|
UTSW |
11 |
77,121,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6030:Efcab5
|
UTSW |
11 |
77,121,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6183:Efcab5
|
UTSW |
11 |
77,137,258 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6437:Efcab5
|
UTSW |
11 |
77,137,902 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6442:Efcab5
|
UTSW |
11 |
77,105,434 (GRCm38) |
nonsense |
probably null |
|
|
R6592:Efcab5
|
UTSW |
11 |
77,113,610 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6769:Efcab5
|
UTSW |
11 |
77,105,432 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7257:Efcab5
|
UTSW |
11 |
77,137,779 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7285:Efcab5
|
UTSW |
11 |
77,138,215 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7285:Efcab5
|
UTSW |
11 |
77,137,344 (GRCm38) |
missense |
probably benign |
|
|
R7350:Efcab5
|
UTSW |
11 |
77,137,561 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7369:Efcab5
|
UTSW |
11 |
77,117,835 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R7760:Efcab5
|
UTSW |
11 |
77,151,926 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8213:Efcab5
|
UTSW |
11 |
77,116,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8690:Efcab5
|
UTSW |
11 |
77,103,289 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9294:Efcab5
|
UTSW |
11 |
77,121,238 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9310:Efcab5
|
UTSW |
11 |
77,113,705 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9324:Efcab5
|
UTSW |
11 |
77,113,720 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9404:Efcab5
|
UTSW |
11 |
77,132,108 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9405:Efcab5
|
UTSW |
11 |
77,132,108 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9407:Efcab5
|
UTSW |
11 |
77,132,108 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9509:Efcab5
|
UTSW |
11 |
77,104,151 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9562:Efcab5
|
UTSW |
11 |
77,132,108 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9651:Efcab5
|
UTSW |
11 |
77,132,108 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9748:Efcab5
|
UTSW |
11 |
77,116,196 (GRCm38) |
nonsense |
probably null |
|
|
X0061:Efcab5
|
UTSW |
11 |
77,116,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Efcab5
|
UTSW |
11 |
77,132,139 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGGTTGACTTTGAAGAC -3'
(R):5'- TTAACAAGTGATCCACCTCTCCTAC -3'
Sequencing Primer
(F):5'- CCAGGGTTGACTTTGAAGACATACAG -3'
(R):5'- GTGATCCACCTCTCCTACATATAATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation