Incidental Mutation 'R9405:Efcab5'
| ID |
711479 |
| 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 # |
R9405 (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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,978,506 (GRCm39) |
Q277L |
probably damaging |
Het |
| Adamts18 |
A |
G |
8: 114,430,030 (GRCm39) |
V1135A |
probably damaging |
Het |
| Apobr |
A |
G |
7: 126,184,704 (GRCm39) |
S72G |
possibly damaging |
Het |
| Arl13b |
T |
A |
16: 62,632,260 (GRCm39) |
Q214L |
possibly damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Asah2 |
T |
G |
19: 31,986,045 (GRCm39) |
T542P |
possibly damaging |
Het |
| Asns |
C |
T |
6: 7,689,283 (GRCm39) |
C73Y |
probably damaging |
Het |
| Calhm2 |
T |
A |
19: 47,124,108 (GRCm39) |
T79S |
probably benign |
Het |
| Cd300c2 |
T |
G |
11: 114,891,587 (GRCm39) |
T96P |
probably damaging |
Het |
| Copb1 |
G |
A |
7: 113,822,458 (GRCm39) |
T757I |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,539,187 (GRCm39) |
T1517S |
|
Het |
| Ddx60 |
T |
A |
8: 62,425,248 (GRCm39) |
L679M |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,093,757 (GRCm39) |
K1123R |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,009,737 (GRCm39) |
S612P |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,272,306 (GRCm39) |
C1037S |
probably benign |
Het |
| Ei24 |
A |
T |
9: 36,694,137 (GRCm39) |
I244N |
possibly damaging |
Het |
| Epb41l4a |
C |
A |
18: 33,943,271 (GRCm39) |
|
probably null |
Het |
| Fam83b |
A |
G |
9: 76,398,703 (GRCm39) |
M800T |
possibly damaging |
Het |
| Fcf1 |
T |
G |
12: 85,021,013 (GRCm39) |
C98G |
probably benign |
Het |
| H2bc3 |
T |
C |
13: 23,931,141 (GRCm39) |
Y122H |
probably benign |
Het |
| Hltf |
G |
T |
3: 20,137,094 (GRCm39) |
Q417H |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,185,258 (GRCm39) |
S35G |
probably benign |
Het |
| Igkv4-57-1 |
T |
G |
6: 69,521,525 (GRCm39) |
Y59S |
probably damaging |
Het |
| Irs2 |
C |
T |
8: 11,055,061 (GRCm39) |
V1124I |
possibly damaging |
Het |
| Kprp |
A |
G |
3: 92,731,560 (GRCm39) |
C497R |
unknown |
Het |
| Krt15 |
A |
T |
11: 100,022,961 (GRCm39) |
V418E |
probably benign |
Het |
| Lce1e |
G |
A |
3: 92,615,312 (GRCm39) |
P12S |
unknown |
Het |
| Lsmem1 |
T |
C |
12: 40,227,113 (GRCm39) |
D124G |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,642,036 (GRCm39) |
F85S |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,447 (GRCm39) |
V204E |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,109,356 (GRCm39) |
A1172T |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,349,424 (GRCm39) |
I2362N |
probably damaging |
Het |
| Nde1 |
T |
G |
16: 14,006,255 (GRCm39) |
L261R |
probably damaging |
Het |
| Neurl1b |
A |
G |
17: 26,658,265 (GRCm39) |
D401G |
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,839 (GRCm39) |
V303A |
probably damaging |
Het |
| Nlrc5 |
C |
T |
8: 95,199,652 (GRCm39) |
P88S |
probably damaging |
Het |
| Or10ad1b |
T |
A |
15: 98,124,912 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,460 (GRCm39) |
I212K |
possibly damaging |
Het |
| Or6c203 |
T |
A |
10: 129,010,165 (GRCm39) |
M242L |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,049,199 (GRCm39) |
K705* |
probably null |
Het |
| Pear1 |
A |
T |
3: 87,659,890 (GRCm39) |
F699I |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
T |
15: 93,400,861 (GRCm39) |
L541* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,538,344 (GRCm39) |
G70S |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 17,193,708 (GRCm39) |
N3065K |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,433,078 (GRCm39) |
N299K |
probably benign |
Het |
| Rdh5 |
A |
C |
10: 128,753,937 (GRCm39) |
D127E |
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,664,612 (GRCm39) |
H1580Y |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,637,994 (GRCm39) |
|
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,129 (GRCm39) |
L139Q |
possibly damaging |
Het |
| Six1 |
A |
G |
12: 73,093,095 (GRCm39) |
S36P |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,950,416 (GRCm39) |
I281V |
probably benign |
Het |
| Snai2 |
T |
A |
16: 14,524,589 (GRCm39) |
Y32N |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,114,634 (GRCm39) |
S244P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,152,030 (GRCm39) |
I5759T |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,012,985 (GRCm39) |
N329S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,435,214 (GRCm39) |
S737R |
unknown |
Het |
| Trav13d-3 |
G |
A |
14: 53,270,715 (GRCm39) |
R59H |
probably benign |
Het |
| Tspan9 |
C |
T |
6: 127,944,124 (GRCm39) |
A59T |
probably benign |
Het |
| Usp53 |
G |
A |
3: 122,746,918 (GRCm39) |
A349V |
probably damaging |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,898 (GRCm39) |
L284P |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,215 (GRCm39) |
N374S |
probably damaging |
Het |
| Zfp622 |
A |
T |
15: 25,985,035 (GRCm39) |
I134F |
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 |
|
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 |
|
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'- GGTTGTACATTTCTAAAGAGATGGC -3'
(R):5'- CAATGTGATGGGAGGCATCTG -3'
Sequencing Primer
(F):5'- TGGCACACTAGGAGGAAGAACC -3'
(R):5'- AACAGGTACCATAGGTTTTCCC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation