Incidental Mutation 'R9407:Efcab5'
| ID |
711604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab5
|
| Ensembl Gene |
ENSMUSG00000050944 |
| Gene Name |
EF-hand calcium binding domain 5 |
| Synonyms |
4930563A03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R9407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77022934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 593
(T593I)
|
| 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: T729I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: T729I
| 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: T593I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: T593I
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,629 (GRCm39) |
Y49C |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,093,210 (GRCm39) |
L1021* |
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,574,229 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,372,345 (GRCm39) |
I505V |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,803,693 (GRCm39) |
D2159G |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,454 (GRCm39) |
I586V |
probably benign |
Het |
| Cd300e |
C |
A |
11: 114,946,171 (GRCm39) |
D97Y |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,723,596 (GRCm39) |
D2877G |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,655,841 (GRCm39) |
N328D |
probably benign |
Het |
| Cldn15 |
G |
A |
5: 137,003,765 (GRCm39) |
V227M |
probably damaging |
Het |
| Clec10a |
T |
G |
11: 70,060,155 (GRCm39) |
I98S |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,749,963 (GRCm39) |
Q89R |
probably damaging |
Het |
| Cryba2 |
C |
A |
1: 74,932,037 (GRCm39) |
A4S |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,442,613 (GRCm39) |
A3222T |
|
Het |
| Dapk1 |
C |
A |
13: 60,898,991 (GRCm39) |
Y820* |
probably null |
Het |
| Entrep3 |
C |
A |
3: 89,094,645 (GRCm39) |
A416D |
possibly damaging |
Het |
| Gar1 |
A |
G |
3: 129,620,608 (GRCm39) |
Y160H |
probably damaging |
Het |
| Gm21834 |
T |
A |
17: 58,048,863 (GRCm39) |
I118L |
probably benign |
Het |
| Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
| Gzmb |
T |
A |
14: 56,497,712 (GRCm39) |
Y176F |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,881,975 (GRCm39) |
K273Q |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,555,234 (GRCm39) |
E816V |
probably damaging |
Het |
| Insr |
A |
C |
8: 3,235,106 (GRCm39) |
D694E |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,072 (GRCm39) |
R38Q |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,870,036 (GRCm39) |
C172* |
probably null |
Het |
| Itgal |
T |
G |
7: 126,921,796 (GRCm39) |
|
probably null |
Het |
| Laptm5 |
A |
T |
4: 130,655,990 (GRCm39) |
M103L |
|
Het |
| Lypd4 |
A |
T |
7: 24,566,160 (GRCm39) |
C55S |
probably null |
Het |
| Mccc1 |
A |
C |
3: 36,030,865 (GRCm39) |
H400Q |
possibly damaging |
Het |
| Myl4 |
C |
T |
11: 104,474,887 (GRCm39) |
R79W |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,596 (GRCm39) |
T569A |
probably benign |
Het |
| Or14a259 |
G |
C |
7: 86,013,194 (GRCm39) |
S117* |
probably null |
Het |
| Or4c117 |
T |
A |
2: 88,955,629 (GRCm39) |
T149S |
probably benign |
Het |
| Or5ak24 |
A |
G |
2: 85,261,060 (GRCm39) |
S38P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,538,265 (GRCm39) |
D1153V |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,614 (GRCm39) |
D111V |
probably damaging |
Het |
| Pomt2 |
G |
T |
12: 87,157,146 (GRCm39) |
F724L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,994,491 (GRCm39) |
Y1284F |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,034,224 (GRCm39) |
K301R |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,951,214 (GRCm39) |
R223* |
probably null |
Het |
| Slc35a1 |
A |
T |
4: 34,675,181 (GRCm39) |
V119E |
probably damaging |
Het |
| Slc6a11 |
A |
T |
6: 114,220,914 (GRCm39) |
I482F |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,583,128 (GRCm39) |
T419A |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,942,991 (GRCm39) |
C616* |
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,553,298 (GRCm39) |
I1125N |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,136,732 (GRCm39) |
D1251G |
probably damaging |
Het |
| Tnfaip2 |
C |
G |
12: 111,412,161 (GRCm39) |
S187R |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,644,045 (GRCm39) |
Y4469C |
probably damaging |
Het |
| Vmn1r229 |
G |
C |
17: 21,035,259 (GRCm39) |
C168S |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,124 (GRCm39) |
S179P |
probably damaging |
Het |
| Zfp474 |
A |
C |
18: 52,771,502 (GRCm39) |
I52L |
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 |
|
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 |
|
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 |
|
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'- GGTTGTACATTTCTAAAGAGATGGC -3'
(R):5'- ACAATGTGATGGGAGGCATC -3'
Sequencing Primer
(F):5'- TGGCACACTAGGAGGAAGAACC -3'
(R):5'- AACAGGTACCATAGGTTTTCCC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation