Incidental Mutation 'PIT4418001:Efcab5'
| ID |
555603 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4418001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76980741-77079794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77022877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 612
(Q612L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108400]
[ENSMUST00000130901]
|
| AlphaFold |
A0JP43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108400
AA Change: Q748L
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: Q748L
| 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 |
possibly damaging
Transcript: ENSMUST00000130901
AA Change: Q612L
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: Q612L
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
T |
C |
6: 88,816,630 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,161,961 (GRCm39) |
Y365H |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,074,587 (GRCm39) |
I1049F |
probably benign |
Het |
| Atg9b |
A |
T |
5: 24,590,513 (GRCm39) |
S859T |
possibly damaging |
Het |
| Banp |
G |
A |
8: 122,732,365 (GRCm39) |
A380T |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,631,384 (GRCm39) |
E1155G |
|
Het |
| Capn12 |
T |
C |
7: 28,585,961 (GRCm39) |
S270P |
probably benign |
Het |
| Cbs |
A |
T |
17: 31,834,495 (GRCm39) |
I498N |
possibly damaging |
Het |
| Cep68 |
T |
C |
11: 20,189,731 (GRCm39) |
K427R |
probably benign |
Het |
| Cobl |
G |
A |
11: 12,206,240 (GRCm39) |
T545I |
possibly damaging |
Het |
| Cr2 |
T |
A |
1: 194,839,760 (GRCm39) |
M556L |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,932,689 (GRCm39) |
S1068P |
probably benign |
Het |
| D2hgdh |
C |
T |
1: 93,766,590 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 139,008,999 (GRCm39) |
L159P |
|
Het |
| Dnajb4 |
A |
T |
3: 151,899,134 (GRCm39) |
F31I |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,498,260 (GRCm39) |
F369S |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,273,429 (GRCm39) |
L493H |
possibly damaging |
Het |
| Efr3b |
A |
T |
12: 4,030,490 (GRCm39) |
L407Q |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,003,494 (GRCm39) |
Q1085L |
probably damaging |
Het |
| Ell |
T |
C |
8: 71,034,331 (GRCm39) |
V199A |
probably damaging |
Het |
| Elmod2 |
G |
T |
8: 84,048,171 (GRCm39) |
T97K |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,386,956 (GRCm39) |
E138G |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 140,001,697 (GRCm39) |
F383L |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,597,879 (GRCm39) |
T559S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,084 (GRCm39) |
V238A |
probably benign |
Het |
| Gm3476 |
T |
C |
14: 6,118,411 (GRCm38) |
I237M |
probably benign |
Het |
| Gm5160 |
A |
T |
18: 14,558,339 (GRCm39) |
I139F |
probably damaging |
Het |
| Gpr15 |
T |
C |
16: 58,538,313 (GRCm39) |
T259A |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,126,746 (GRCm39) |
K293E |
possibly damaging |
Het |
| Ikbip |
T |
A |
10: 90,932,395 (GRCm39) |
H346Q |
probably benign |
Het |
| Il4ra |
G |
A |
7: 125,175,510 (GRCm39) |
G573S |
probably benign |
Het |
| Ing2 |
A |
T |
8: 48,122,125 (GRCm39) |
M141K |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,664,414 (GRCm39) |
S517P |
probably benign |
Het |
| Itprid1 |
T |
G |
6: 55,945,330 (GRCm39) |
S684A |
probably damaging |
Het |
| Kcnab1 |
A |
G |
3: 65,265,741 (GRCm39) |
E295G |
probably benign |
Het |
| Klhl21 |
A |
C |
4: 152,099,835 (GRCm39) |
Y515S |
possibly damaging |
Het |
| Lcn9 |
A |
T |
2: 25,714,553 (GRCm39) |
Y139F |
probably damaging |
Het |
| Mcemp1 |
G |
T |
8: 3,717,052 (GRCm39) |
L64F |
probably null |
Het |
| Mos |
T |
C |
4: 3,870,814 (GRCm39) |
D334G |
possibly damaging |
Het |
| Myo9b |
T |
G |
8: 71,775,591 (GRCm39) |
F338V |
probably damaging |
Het |
| Nefl |
G |
A |
14: 68,323,979 (GRCm39) |
V406M |
probably damaging |
Het |
| Nfam1 |
C |
A |
15: 82,885,689 (GRCm39) |
R181L |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,335,925 (GRCm39) |
R119G |
probably damaging |
Het |
| Or12e10 |
G |
T |
2: 87,640,938 (GRCm39) |
C258F |
probably damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
| Or7a40 |
T |
C |
16: 16,491,719 (GRCm39) |
N42S |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,073,960 (GRCm39) |
V914E |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,504,266 (GRCm39) |
Q111R |
probably null |
Het |
| Ptchd3 |
T |
A |
11: 121,732,566 (GRCm39) |
Y485* |
probably null |
Het |
| Ptchd4 |
T |
A |
17: 42,813,980 (GRCm39) |
I627N |
probably damaging |
Het |
| Retnlb |
T |
C |
16: 48,637,631 (GRCm39) |
V19A |
probably benign |
Het |
| Rimbp2 |
T |
A |
5: 128,857,425 (GRCm39) |
T809S |
probably benign |
Het |
| Sema6c |
T |
A |
3: 95,077,401 (GRCm39) |
D404E |
possibly damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,479,821 (GRCm39) |
A631V |
unknown |
Het |
| Snai3 |
A |
T |
8: 123,183,073 (GRCm39) |
H157Q |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,173,961 (GRCm39) |
Y52C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,535,504 (GRCm39) |
E68G |
probably benign |
Het |
| Sun1 |
T |
A |
5: 139,212,343 (GRCm39) |
D155E |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,474,183 (GRCm39) |
D627G |
probably benign |
Het |
| Tas2r108 |
T |
A |
6: 40,470,614 (GRCm39) |
I30K |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,090,571 (GRCm39) |
V639A |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,424,299 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,597,554 (GRCm39) |
N19786K |
probably damaging |
Het |
| Vmn1r79 |
T |
G |
7: 11,910,766 (GRCm39) |
V216G |
probably damaging |
Het |
| Wdr64 |
C |
A |
1: 175,571,160 (GRCm39) |
Y331* |
probably null |
Het |
| Zfyve28 |
A |
T |
5: 34,390,721 (GRCm39) |
V180E |
probably damaging |
Het |
| Zic4 |
C |
T |
9: 91,261,447 (GRCm39) |
T234I |
possibly 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) |
|
|
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATCTCTTGCCAAAAGC -3'
(R):5'- TTCACAGACCTACATGCGAC -3'
Sequencing Primer
(F):5'- GGAACTCCCTGTGTAAATCAGACTG -3'
(R):5'- CAGACCTACATGCGACTATTAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation