Incidental Mutation 'R8911:Ice1'
ID |
678646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
MMRRC Submission |
068764-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R8911 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70740787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 70
(R70Q)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043493
AA Change: R2140Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525 AA Change: R2140Q
Domain | Start | End | E-Value | Type |
coiled coil region
|
22 |
185 |
N/A |
INTRINSIC |
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
low complexity region
|
338 |
351 |
N/A |
INTRINSIC |
low complexity region
|
372 |
378 |
N/A |
INTRINSIC |
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
low complexity region
|
606 |
619 |
N/A |
INTRINSIC |
low complexity region
|
769 |
780 |
N/A |
INTRINSIC |
low complexity region
|
946 |
958 |
N/A |
INTRINSIC |
low complexity region
|
1061 |
1073 |
N/A |
INTRINSIC |
low complexity region
|
1329 |
1352 |
N/A |
INTRINSIC |
low complexity region
|
1595 |
1604 |
N/A |
INTRINSIC |
low complexity region
|
1656 |
1671 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
2026 |
2223 |
5e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220637
|
Predicted Effect |
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
3425401B19Rik |
A |
T |
14: 32,383,626 (GRCm39) |
C780S |
possibly damaging |
Het |
Abca12 |
T |
C |
1: 71,380,690 (GRCm39) |
D306G |
probably benign |
Het |
Adgrl2 |
T |
C |
3: 148,558,163 (GRCm39) |
|
probably benign |
Het |
Agt |
T |
C |
8: 125,291,184 (GRCm39) |
Y41C |
probably benign |
Het |
Alx3 |
G |
T |
3: 107,511,603 (GRCm39) |
R204L |
probably damaging |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Bcl11a |
C |
T |
11: 24,114,763 (GRCm39) |
P702L |
probably damaging |
Het |
Bpifa2 |
A |
G |
2: 153,851,090 (GRCm39) |
N17S |
probably benign |
Het |
Cabcoco1 |
T |
C |
10: 68,377,584 (GRCm39) |
D35G |
probably benign |
Het |
Cd69 |
T |
C |
6: 129,252,187 (GRCm39) |
K21R |
probably benign |
Het |
Cdhr18 |
T |
C |
14: 13,823,796 (GRCm38) |
|
probably null |
Het |
Cntn4 |
T |
C |
6: 106,330,743 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
A |
C |
17: 58,506,043 (GRCm39) |
N689T |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,883,238 (GRCm39) |
Y389C |
probably damaging |
Het |
Col5a1 |
T |
C |
2: 27,887,630 (GRCm39) |
|
probably null |
Het |
Coro1b |
G |
A |
19: 4,200,803 (GRCm39) |
R245Q |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,748,019 (GRCm39) |
D244G |
probably damaging |
Het |
Ctcfl |
C |
T |
2: 172,937,121 (GRCm39) |
|
probably null |
Het |
Dpy19l4 |
G |
A |
4: 11,317,078 (GRCm39) |
P40L |
possibly damaging |
Het |
Dsg4 |
C |
A |
18: 20,584,929 (GRCm39) |
Y214* |
probably null |
Het |
Eapp |
A |
T |
12: 54,739,440 (GRCm39) |
|
probably benign |
Het |
Fmo6 |
T |
C |
1: 162,748,114 (GRCm39) |
T317A |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,564 (GRCm39) |
C39R |
unknown |
Het |
Golim4 |
T |
C |
3: 75,813,703 (GRCm39) |
|
probably benign |
Het |
Greb1 |
G |
A |
12: 16,740,903 (GRCm39) |
S1393L |
possibly damaging |
Het |
Guca1b |
A |
G |
17: 47,700,044 (GRCm39) |
I73V |
probably benign |
Het |
Hdac7 |
C |
T |
15: 97,694,789 (GRCm39) |
V796I |
possibly damaging |
Het |
Hectd1 |
A |
G |
12: 51,795,616 (GRCm39) |
I2271T |
probably damaging |
Het |
Heg1 |
T |
G |
16: 33,558,627 (GRCm39) |
Y1066* |
probably null |
Het |
Helz2 |
C |
A |
2: 180,880,173 (GRCm39) |
K514N |
|
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Itgae |
A |
G |
11: 73,004,447 (GRCm39) |
T245A |
probably damaging |
Het |
Jhy |
G |
A |
9: 40,822,453 (GRCm39) |
Q562* |
probably null |
Het |
Khnyn |
A |
G |
14: 56,124,735 (GRCm39) |
R330G |
probably benign |
Het |
Lamc2 |
A |
T |
1: 153,027,873 (GRCm39) |
C184S |
probably damaging |
Het |
Lhx5 |
T |
A |
5: 120,574,509 (GRCm39) |
L271* |
probably null |
Het |
Magel2 |
G |
A |
7: 62,029,537 (GRCm39) |
V814M |
unknown |
Het |
Manf |
A |
G |
9: 106,767,461 (GRCm39) |
I85T |
possibly damaging |
Het |
Mgmt |
A |
G |
7: 136,729,794 (GRCm39) |
T203A |
probably benign |
Het |
Mmp9 |
C |
T |
2: 164,794,568 (GRCm39) |
S520F |
possibly damaging |
Het |
Myrip |
A |
G |
9: 120,270,484 (GRCm39) |
E578G |
possibly damaging |
Het |
Naaladl2 |
A |
G |
3: 23,900,757 (GRCm39) |
M691T |
probably damaging |
Het |
Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or4c112 |
T |
C |
2: 88,854,294 (GRCm39) |
N18D |
probably benign |
Het |
Or4c117 |
T |
C |
2: 88,955,608 (GRCm39) |
I156V |
probably benign |
Het |
Pcdhga12 |
A |
T |
18: 37,900,118 (GRCm39) |
M317L |
possibly damaging |
Het |
Pcnt |
T |
G |
10: 76,223,359 (GRCm39) |
K1941T |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,650,917 (GRCm39) |
M896K |
probably benign |
Het |
Pfkfb3 |
A |
T |
2: 11,487,254 (GRCm39) |
|
probably null |
Het |
Pik3cb |
A |
G |
9: 98,946,201 (GRCm39) |
S542P |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,247,257 (GRCm39) |
V822A |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,915,141 (GRCm39) |
G717C |
probably damaging |
Het |
Ptprs |
C |
T |
17: 56,730,320 (GRCm39) |
A1185T |
probably benign |
Het |
Ptpru |
T |
A |
4: 131,503,560 (GRCm39) |
I1157F |
probably damaging |
Het |
Rbbp6 |
A |
G |
7: 122,591,268 (GRCm39) |
T457A |
possibly damaging |
Het |
Rdh16f2 |
A |
G |
10: 127,712,812 (GRCm39) |
E270G |
probably damaging |
Het |
Rrp15 |
C |
T |
1: 186,453,641 (GRCm39) |
E269K |
unknown |
Het |
Sec23b |
T |
C |
2: 144,401,316 (GRCm39) |
V59A |
probably benign |
Het |
Slc22a21 |
A |
T |
11: 53,846,809 (GRCm39) |
|
probably null |
Het |
Sp5 |
C |
A |
2: 70,306,962 (GRCm39) |
P216T |
probably benign |
Het |
Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
Trim37 |
C |
T |
11: 87,097,629 (GRCm39) |
S808F |
possibly damaging |
Het |
Tsks |
A |
T |
7: 44,592,694 (GRCm39) |
|
probably benign |
Het |
Upf1 |
A |
T |
8: 70,791,087 (GRCm39) |
S563T |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,987,893 (GRCm39) |
D580G |
unknown |
Het |
Usp14 |
A |
G |
18: 9,996,194 (GRCm39) |
I462T |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn1r184 |
C |
G |
7: 25,966,310 (GRCm39) |
Q19E |
possibly damaging |
Het |
Vps50 |
C |
A |
6: 3,516,710 (GRCm39) |
A64E |
probably benign |
Het |
Zc3h11a |
T |
A |
1: 133,566,339 (GRCm39) |
N211I |
probably damaging |
Het |
Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,061 (GRCm39) |
S723T |
probably benign |
Het |
Zmynd12 |
A |
T |
4: 119,294,286 (GRCm39) |
I88F |
probably damaging |
Het |
|
Other mutations in Ice1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Ice1
|
APN |
13 |
70,750,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01155:Ice1
|
APN |
13 |
70,752,201 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01298:Ice1
|
APN |
13 |
70,753,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01797:Ice1
|
APN |
13 |
70,772,065 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02423:Ice1
|
APN |
13 |
70,740,718 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02583:Ice1
|
APN |
13 |
70,753,854 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02794:Ice1
|
APN |
13 |
70,757,278 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02882:Ice1
|
APN |
13 |
70,772,593 (GRCm39) |
splice site |
probably benign |
|
IGL02929:Ice1
|
APN |
13 |
70,744,322 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03343:Ice1
|
APN |
13 |
70,751,048 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03384:Ice1
|
APN |
13 |
70,751,368 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4651001:Ice1
|
UTSW |
13 |
70,772,040 (GRCm39) |
critical splice donor site |
probably null |
|
R0078:Ice1
|
UTSW |
13 |
70,751,467 (GRCm39) |
missense |
probably damaging |
0.98 |
R0081:Ice1
|
UTSW |
13 |
70,767,163 (GRCm39) |
nonsense |
probably null |
|
R0281:Ice1
|
UTSW |
13 |
70,752,166 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0557:Ice1
|
UTSW |
13 |
70,749,310 (GRCm39) |
missense |
probably benign |
0.08 |
R0973:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
probably benign |
0.04 |
R0973:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
probably benign |
0.04 |
R0974:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
probably benign |
0.04 |
R1033:Ice1
|
UTSW |
13 |
70,754,713 (GRCm39) |
missense |
probably damaging |
0.96 |
R1371:Ice1
|
UTSW |
13 |
70,744,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1525:Ice1
|
UTSW |
13 |
70,753,529 (GRCm39) |
missense |
probably benign |
0.01 |
R1539:Ice1
|
UTSW |
13 |
70,754,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Ice1
|
UTSW |
13 |
70,753,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1603:Ice1
|
UTSW |
13 |
70,751,472 (GRCm39) |
missense |
probably benign |
0.01 |
R1680:Ice1
|
UTSW |
13 |
70,753,567 (GRCm39) |
missense |
probably benign |
0.00 |
R1737:Ice1
|
UTSW |
13 |
70,754,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R1766:Ice1
|
UTSW |
13 |
70,752,561 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1774:Ice1
|
UTSW |
13 |
70,752,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Ice1
|
UTSW |
13 |
70,763,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R1840:Ice1
|
UTSW |
13 |
70,754,337 (GRCm39) |
missense |
probably benign |
0.00 |
R1898:Ice1
|
UTSW |
13 |
70,750,426 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1930:Ice1
|
UTSW |
13 |
70,753,202 (GRCm39) |
missense |
probably benign |
0.18 |
R2000:Ice1
|
UTSW |
13 |
70,750,546 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2106:Ice1
|
UTSW |
13 |
70,753,741 (GRCm39) |
missense |
probably benign |
0.00 |
R2293:Ice1
|
UTSW |
13 |
70,763,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R2377:Ice1
|
UTSW |
13 |
70,750,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R2909:Ice1
|
UTSW |
13 |
70,744,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R2965:Ice1
|
UTSW |
13 |
70,750,697 (GRCm39) |
missense |
probably benign |
0.31 |
R3730:Ice1
|
UTSW |
13 |
70,751,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R3886:Ice1
|
UTSW |
13 |
70,753,489 (GRCm39) |
missense |
probably benign |
0.00 |
R3914:Ice1
|
UTSW |
13 |
70,754,203 (GRCm39) |
missense |
probably benign |
0.30 |
R4051:Ice1
|
UTSW |
13 |
70,751,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R4321:Ice1
|
UTSW |
13 |
70,751,229 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4499:Ice1
|
UTSW |
13 |
70,757,146 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4729:Ice1
|
UTSW |
13 |
70,754,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R5078:Ice1
|
UTSW |
13 |
70,752,969 (GRCm39) |
missense |
probably benign |
|
R5431:Ice1
|
UTSW |
13 |
70,740,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Ice1
|
UTSW |
13 |
70,763,219 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5881:Ice1
|
UTSW |
13 |
70,754,620 (GRCm39) |
missense |
probably benign |
0.04 |
R5914:Ice1
|
UTSW |
13 |
70,754,496 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6171:Ice1
|
UTSW |
13 |
70,754,850 (GRCm39) |
missense |
probably benign |
|
R6253:Ice1
|
UTSW |
13 |
70,751,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R6274:Ice1
|
UTSW |
13 |
70,742,958 (GRCm39) |
missense |
probably damaging |
0.97 |
R6518:Ice1
|
UTSW |
13 |
70,754,428 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6665:Ice1
|
UTSW |
13 |
70,751,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6714:Ice1
|
UTSW |
13 |
70,763,382 (GRCm39) |
splice site |
probably null |
|
R6853:Ice1
|
UTSW |
13 |
70,751,421 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6917:Ice1
|
UTSW |
13 |
70,743,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R7032:Ice1
|
UTSW |
13 |
70,744,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R7176:Ice1
|
UTSW |
13 |
70,772,525 (GRCm39) |
critical splice donor site |
probably null |
|
R7352:Ice1
|
UTSW |
13 |
70,754,221 (GRCm39) |
nonsense |
probably null |
|
R7445:Ice1
|
UTSW |
13 |
70,744,286 (GRCm39) |
missense |
|
|
R7646:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7647:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7648:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7650:Ice1
|
UTSW |
13 |
70,753,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R7650:Ice1
|
UTSW |
13 |
70,737,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7812:Ice1
|
UTSW |
13 |
70,751,124 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8061:Ice1
|
UTSW |
13 |
70,751,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Ice1
|
UTSW |
13 |
70,754,320 (GRCm39) |
missense |
probably benign |
0.02 |
R8283:Ice1
|
UTSW |
13 |
70,752,549 (GRCm39) |
missense |
probably damaging |
0.97 |
R8303:Ice1
|
UTSW |
13 |
70,754,526 (GRCm39) |
missense |
probably benign |
0.04 |
R8444:Ice1
|
UTSW |
13 |
70,752,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R8474:Ice1
|
UTSW |
13 |
70,752,566 (GRCm39) |
missense |
probably benign |
0.42 |
R8751:Ice1
|
UTSW |
13 |
70,751,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Ice1
|
UTSW |
13 |
70,751,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R8954:Ice1
|
UTSW |
13 |
70,758,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Ice1
|
UTSW |
13 |
70,740,758 (GRCm39) |
missense |
|
|
R9438:Ice1
|
UTSW |
13 |
70,754,434 (GRCm39) |
missense |
probably benign |
0.04 |
R9452:Ice1
|
UTSW |
13 |
70,744,462 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Ice1
|
UTSW |
13 |
70,740,721 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ice1
|
UTSW |
13 |
70,753,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCAACTGACCCTTGAAGATAC -3'
(R):5'- CAGCTGTCTCACTGAGTGGTAG -3'
Sequencing Primer
(F):5'- CACATGAATTTAAGTTGGAAGGACTG -3'
(R):5'- TGGTAGCCCACACTGCAC -3'
|
Posted On |
2021-08-02 |