Incidental Mutation 'R8061:Ice1'
| ID |
619730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
067497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R8061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70751851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1412
(C1412S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
[ENSMUST00000222568]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043493
AA Change: C1412S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: C1412S
| 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: ENSMUST00000222568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222627
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
G |
A |
5: 115,255,710 (GRCm39) |
R42C |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,263,411 (GRCm39) |
R338C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,408 (GRCm39) |
E1008G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,747,456 (GRCm39) |
Y108N |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,728,982 (GRCm39) |
C369Y |
probably damaging |
Het |
| Asb3 |
A |
G |
11: 30,948,447 (GRCm39) |
N41S |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,331,920 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,300 (GRCm39) |
M1770K |
possibly damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,853,527 (GRCm39) |
|
probably benign |
Het |
| Cfap300 |
A |
G |
9: 8,042,672 (GRCm39) |
W37R |
probably damaging |
Het |
| Chrm1 |
T |
C |
19: 8,656,518 (GRCm39) |
Y408H |
possibly damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,491,655 (GRCm39) |
F390L |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,040 (GRCm39) |
Y100C |
probably benign |
Het |
| Cyria |
G |
T |
12: 12,412,028 (GRCm39) |
A150S |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,981 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,669,077 (GRCm39) |
Q1202* |
probably null |
Het |
| Disp1 |
C |
T |
1: 182,869,151 (GRCm39) |
V1090M |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,058 (GRCm39) |
D62G |
possibly damaging |
Het |
| Dock1 |
C |
T |
7: 134,374,052 (GRCm39) |
T566I |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,403,246 (GRCm39) |
M18R |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,546,884 (GRCm39) |
L296P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,997,275 (GRCm39) |
D155V |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,124,903 (GRCm39) |
S465P |
possibly damaging |
Het |
| Eno1b |
G |
A |
18: 48,180,725 (GRCm39) |
W301* |
probably null |
Het |
| Fpgt |
A |
G |
3: 154,792,903 (GRCm39) |
S375P |
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,011,785 (GRCm39) |
S348F |
possibly damaging |
Het |
| Gen1 |
A |
T |
12: 11,311,077 (GRCm39) |
|
probably benign |
Het |
| Iqcn |
A |
G |
8: 71,161,224 (GRCm39) |
E139G |
probably benign |
Het |
| Klhl2 |
A |
C |
8: 65,211,257 (GRCm39) |
L264V |
probably damaging |
Het |
| Lars2 |
A |
G |
9: 123,288,562 (GRCm39) |
T803A |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,612 (GRCm39) |
K232M |
probably damaging |
Het |
| Lix1 |
G |
A |
17: 17,663,938 (GRCm39) |
R92Q |
probably damaging |
Het |
| Meig1 |
C |
T |
2: 3,410,240 (GRCm39) |
V87I |
not run |
Het |
| Mitf |
A |
C |
6: 97,970,259 (GRCm39) |
S176R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,398 (GRCm39) |
V236A |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,030,239 (GRCm39) |
Y119* |
probably null |
Het |
| Ncapg2 |
A |
G |
12: 116,390,197 (GRCm39) |
N382S |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,792 (GRCm39) |
F147S |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,256,461 (GRCm39) |
R454Q |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,956,297 (GRCm39) |
S13P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,153,179 (GRCm39) |
D413G |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,188,316 (GRCm39) |
Y803F |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,380,162 (GRCm39) |
|
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,382,660 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,619,330 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,659,401 (GRCm39) |
Y112C |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,422,492 (GRCm39) |
N907S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,522,938 (GRCm39) |
N922I |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,088,077 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,018,361 (GRCm39) |
S280R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,965,419 (GRCm39) |
I63M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,751,610 (GRCm39) |
V2817E |
unknown |
Het |
| Sprr3 |
T |
C |
3: 92,364,184 (GRCm39) |
E220G |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,762 (GRCm39) |
E14G |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,501,663 (GRCm39) |
D1289G |
probably damaging |
Het |
| Tmem121b |
C |
A |
6: 120,469,064 (GRCm39) |
G551V |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,523,404 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,409 (GRCm39) |
I3336L |
probably benign |
Het |
| Vmn1r200 |
C |
A |
13: 22,579,453 (GRCm39) |
Y85* |
probably null |
Het |
| Vps39 |
T |
C |
2: 120,174,692 (GRCm39) |
I97V |
probably benign |
Het |
| Zan |
T |
A |
5: 137,434,893 (GRCm39) |
I2167F |
unknown |
Het |
| Zfp37 |
A |
T |
4: 62,109,665 (GRCm39) |
Y507* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,793,573 (GRCm39) |
V55A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,340 (GRCm39) |
N294I |
possibly damaging |
Het |
| Zfp729a |
T |
C |
13: 67,768,208 (GRCm39) |
T674A |
probably benign |
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 |
|
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'- AGGTCTGTTCCGAAGACGAC -3'
(R):5'- TTCAACCCCACCAAGGTTAG -3'
Sequencing Primer
(F):5'- GACGACTCTTATCAAAGTTGGCACTC -3'
(R):5'- CCACCAAGGTTAGAGCAAAGTTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation