Incidental Mutation 'R0557:Ice1'
ID |
45673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
MMRRC Submission |
038749-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R0557 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70749310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1945
(I1945V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043493
AA Change: I1945V
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525 AA Change: I1945V
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 |
probably benign
Transcript: ENSMUST00000222274
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223102
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
G |
A |
10: 78,903,519 (GRCm39) |
H266Y |
probably damaging |
Het |
Abi3bp |
C |
T |
16: 56,488,750 (GRCm39) |
R1294C |
probably damaging |
Het |
Acot3 |
T |
C |
12: 84,105,630 (GRCm39) |
Y366H |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,353,817 (GRCm39) |
V254A |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,979,308 (GRCm39) |
D197E |
probably benign |
Het |
Aldh1b1 |
A |
T |
4: 45,802,647 (GRCm39) |
T62S |
probably benign |
Het |
Alox12e |
T |
C |
11: 70,212,274 (GRCm39) |
R135G |
possibly damaging |
Het |
Amn1 |
T |
C |
6: 149,072,503 (GRCm39) |
Y78C |
possibly damaging |
Het |
Ankmy2 |
G |
A |
12: 36,237,765 (GRCm39) |
S288N |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,693,297 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
T |
C |
15: 83,187,386 (GRCm39) |
D491G |
probably damaging |
Het |
Arhgap15 |
T |
C |
2: 44,006,629 (GRCm39) |
S249P |
possibly damaging |
Het |
Atp9b |
A |
G |
18: 80,809,137 (GRCm39) |
V211A |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,562,751 (GRCm39) |
Y12H |
probably damaging |
Het |
Cdkn2aip |
T |
C |
8: 48,165,977 (GRCm39) |
T110A |
probably damaging |
Het |
Cemip2 |
C |
T |
19: 21,789,267 (GRCm39) |
A567V |
probably benign |
Het |
Chchd6 |
A |
G |
6: 89,551,569 (GRCm39) |
S31P |
probably damaging |
Het |
Chrna3 |
A |
G |
9: 54,923,149 (GRCm39) |
Y220H |
probably damaging |
Het |
Ctu1 |
A |
G |
7: 43,326,583 (GRCm39) |
D414G |
unknown |
Het |
Cxxc1 |
C |
T |
18: 74,351,845 (GRCm39) |
R241W |
possibly damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,406,398 (GRCm39) |
I18T |
unknown |
Het |
Dip2c |
A |
T |
13: 9,603,495 (GRCm39) |
I405F |
possibly damaging |
Het |
Disp3 |
A |
T |
4: 148,325,861 (GRCm39) |
M1299K |
possibly damaging |
Het |
Dnah9 |
T |
G |
11: 65,975,492 (GRCm39) |
H1519P |
probably damaging |
Het |
Ehd3 |
C |
A |
17: 74,136,928 (GRCm39) |
Q366K |
probably benign |
Het |
Exosc3 |
A |
T |
4: 45,316,957 (GRCm39) |
M232K |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,165,216 (GRCm39) |
|
probably null |
Het |
Fgfr2 |
A |
G |
7: 129,820,811 (GRCm39) |
V241A |
probably damaging |
Het |
Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
Hars2 |
T |
C |
18: 36,924,130 (GRCm39) |
I489T |
possibly damaging |
Het |
Il33 |
A |
C |
19: 29,932,036 (GRCm39) |
N143T |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,419,321 (GRCm39) |
W313* |
probably null |
Het |
Insyn2a |
A |
G |
7: 134,520,434 (GRCm39) |
L32P |
probably damaging |
Het |
Isca1 |
G |
T |
13: 59,904,788 (GRCm39) |
Q91K |
possibly damaging |
Het |
Kcnh5 |
T |
A |
12: 75,161,323 (GRCm39) |
Y195F |
probably damaging |
Het |
Lama4 |
T |
G |
10: 38,964,393 (GRCm39) |
I1355S |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,697,574 (GRCm39) |
D470G |
probably benign |
Het |
Mak |
A |
G |
13: 41,193,135 (GRCm39) |
Y446H |
probably benign |
Het |
Mki67 |
C |
T |
7: 135,300,990 (GRCm39) |
S1348N |
possibly damaging |
Het |
Mpzl3 |
A |
G |
9: 44,977,806 (GRCm39) |
Y138C |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,192,624 (GRCm39) |
L1501P |
possibly damaging |
Het |
Naa35 |
A |
G |
13: 59,775,778 (GRCm39) |
E552G |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,183,369 (GRCm39) |
L200* |
probably null |
Het |
Nrm |
T |
C |
17: 36,175,524 (GRCm39) |
V210A |
probably damaging |
Het |
Nt5e |
T |
A |
9: 88,248,519 (GRCm39) |
N405K |
probably damaging |
Het |
Or1j4 |
T |
A |
2: 36,740,760 (GRCm39) |
I234N |
possibly damaging |
Het |
Or1o11 |
T |
A |
17: 37,756,712 (GRCm39) |
I100N |
probably damaging |
Het |
Orc2 |
T |
C |
1: 58,508,846 (GRCm39) |
S434G |
probably damaging |
Het |
Plcb4 |
G |
A |
2: 135,796,269 (GRCm39) |
V388I |
probably damaging |
Het |
Ppm1l |
A |
G |
3: 69,405,234 (GRCm39) |
D177G |
probably benign |
Het |
Prl8a2 |
A |
T |
13: 27,536,875 (GRCm39) |
R165* |
probably null |
Het |
Ptbp3 |
G |
A |
4: 59,517,684 (GRCm39) |
R66* |
probably null |
Het |
Pten |
A |
G |
19: 32,795,290 (GRCm39) |
T286A |
probably benign |
Het |
Rac2 |
C |
T |
15: 78,449,174 (GRCm39) |
V113M |
probably damaging |
Het |
Rai1 |
C |
T |
11: 60,081,321 (GRCm39) |
T1795I |
probably benign |
Het |
Ros1 |
T |
G |
10: 51,961,359 (GRCm39) |
K1792Q |
possibly damaging |
Het |
Sema6a |
A |
G |
18: 47,382,567 (GRCm39) |
V660A |
probably benign |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Slc26a5 |
A |
G |
5: 22,024,762 (GRCm39) |
S441P |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,294,163 (GRCm39) |
L462P |
probably damaging |
Het |
Spag5 |
T |
A |
11: 78,205,037 (GRCm39) |
S607R |
probably damaging |
Het |
Spata18 |
A |
T |
5: 73,809,013 (GRCm39) |
N29Y |
probably damaging |
Het |
Spata20 |
C |
T |
11: 94,376,048 (GRCm39) |
R22H |
probably benign |
Het |
Spsb2 |
A |
C |
6: 124,787,355 (GRCm39) |
Y263S |
probably damaging |
Het |
Sptbn4 |
C |
A |
7: 27,107,753 (GRCm39) |
E885* |
probably null |
Het |
Syne2 |
T |
C |
12: 75,976,075 (GRCm39) |
I1175T |
probably benign |
Het |
Tmem209 |
A |
C |
6: 30,501,913 (GRCm39) |
H253Q |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,702,468 (GRCm39) |
D788E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,353,848 (GRCm39) |
S1509P |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,584,173 (GRCm39) |
D2661E |
probably damaging |
Het |
Vars1 |
C |
A |
17: 35,223,960 (GRCm39) |
P264Q |
possibly damaging |
Het |
Vmn2r66 |
T |
G |
7: 84,643,972 (GRCm39) |
S813R |
probably damaging |
Het |
Wipf2 |
C |
A |
11: 98,782,915 (GRCm39) |
Q114K |
possibly damaging |
Het |
Wnt5b |
G |
T |
6: 119,410,779 (GRCm39) |
H220Q |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,346,695 (GRCm39) |
T2979A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,531,708 (GRCm39) |
V408A |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,808,556 (GRCm39) |
S2744P |
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 |
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 |
R8911:Ice1
|
UTSW |
13 |
70,740,787 (GRCm39) |
missense |
|
|
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'- CCCACAGTGTGCAACACAGGAATAG -3'
(R):5'- CTGAATGGTGACCATGTCCTAATAGGC -3'
Sequencing Primer
(F):5'- GTACATGCACCCATGTCAGTAATTC -3'
(R):5'- CCATGTCCTAATAGGCAAGTAGGTG -3'
|
Posted On |
2013-06-11 |