Incidental Mutation 'R4729:Ice1'
| ID |
358707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
041603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R4729 (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 70754503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 528
(R528G)
|
| 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: R528G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: R528G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,667,187 (GRCm39) |
L220H |
unknown |
Het |
| Amt |
T |
A |
9: 108,177,851 (GRCm39) |
L272Q |
probably damaging |
Het |
| Ank2 |
G |
C |
3: 126,770,545 (GRCm39) |
Y894* |
probably null |
Het |
| Ankzf1 |
T |
A |
1: 75,170,908 (GRCm39) |
F105I |
probably damaging |
Het |
| Aox4 |
C |
A |
1: 58,298,236 (GRCm39) |
Y1067* |
probably null |
Het |
| BC034090 |
T |
A |
1: 155,100,836 (GRCm39) |
Q476L |
probably damaging |
Het |
| Bhmt |
G |
T |
13: 93,763,871 (GRCm39) |
R57S |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,633,136 (GRCm39) |
F964L |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,724,851 (GRCm39) |
S396R |
probably benign |
Het |
| Cpne4 |
C |
A |
9: 104,799,755 (GRCm39) |
Q191K |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,475,038 (GRCm39) |
Y352H |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,058,623 (GRCm39) |
S426P |
probably damaging |
Het |
| Dennd10 |
T |
A |
19: 60,823,309 (GRCm39) |
F315I |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,329,443 (GRCm39) |
N326K |
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,911,760 (GRCm39) |
I257N |
probably damaging |
Het |
| Elfn1 |
T |
G |
5: 139,959,413 (GRCm39) |
F806V |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,783,204 (GRCm39) |
Y559F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,543,480 (GRCm39) |
|
probably null |
Het |
| Fam78a |
T |
C |
2: 31,972,617 (GRCm39) |
N101S |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,874,185 (GRCm39) |
S1051P |
probably benign |
Het |
| Galns |
C |
T |
8: 123,330,195 (GRCm39) |
G112D |
probably damaging |
Het |
| Gm9923 |
A |
G |
10: 72,145,524 (GRCm39) |
K125R |
probably damaging |
Het |
| Hectd3 |
G |
A |
4: 116,854,415 (GRCm39) |
V326M |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,048,248 (GRCm39) |
S495P |
possibly damaging |
Het |
| Igkv12-38 |
T |
A |
6: 69,920,368 (GRCm39) |
Y50F |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,445,025 (GRCm39) |
S883G |
probably damaging |
Het |
| Irf8 |
T |
C |
8: 121,480,178 (GRCm39) |
S139P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Kcnq4 |
G |
T |
4: 120,570,271 (GRCm39) |
D357E |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,584 (GRCm39) |
L364P |
probably damaging |
Het |
| Krt7 |
A |
G |
15: 101,318,439 (GRCm39) |
I309V |
probably benign |
Het |
| Krt76 |
G |
T |
15: 101,797,516 (GRCm39) |
A281D |
probably damaging |
Het |
| Lancl2 |
T |
C |
6: 57,714,697 (GRCm39) |
F430L |
probably damaging |
Het |
| Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
| Lrrc26 |
A |
T |
2: 25,180,076 (GRCm39) |
T26S |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,912,041 (GRCm39) |
M1840L |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,812,486 (GRCm39) |
C966Y |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,247,266 (GRCm39) |
S354C |
possibly damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,252,159 (GRCm39) |
G577D |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,426,027 (GRCm39) |
R2366H |
probably damaging |
Het |
| Myo18a |
T |
G |
11: 77,668,511 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
A |
13: 100,358,639 (GRCm39) |
R866C |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,102,567 (GRCm39) |
V455E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,153,674 (GRCm39) |
I2417T |
possibly damaging |
Het |
| Nme5 |
C |
T |
18: 34,702,890 (GRCm39) |
A133T |
probably benign |
Het |
| Nradd |
T |
C |
9: 110,450,979 (GRCm39) |
D51G |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,250,843 (GRCm39) |
R591G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,337,929 (GRCm39) |
F73S |
probably damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,419 (GRCm39) |
Q250* |
probably null |
Het |
| Pde1c |
T |
A |
6: 56,049,194 (GRCm39) |
K766N |
probably damaging |
Het |
| Phf21b |
G |
A |
15: 84,738,942 (GRCm39) |
Q40* |
probably null |
Het |
| Prr14 |
A |
G |
7: 127,073,868 (GRCm39) |
D244G |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,351,249 (GRCm39) |
A88T |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,593,317 (GRCm39) |
S428T |
probably benign |
Het |
| Rdh9 |
A |
G |
10: 127,612,621 (GRCm39) |
I90V |
probably benign |
Het |
| Rhag |
G |
T |
17: 41,139,292 (GRCm39) |
G76C |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,261,984 (GRCm39) |
V6E |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,244 (GRCm39) |
V92E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,500,592 (GRCm39) |
I229T |
probably damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,854,695 (GRCm39) |
T652K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,635,459 (GRCm39) |
I345F |
probably damaging |
Het |
| Snrnp200 |
A |
T |
2: 127,074,857 (GRCm39) |
I1477F |
probably damaging |
Het |
| Snx31 |
G |
A |
15: 36,523,698 (GRCm39) |
T328I |
possibly damaging |
Het |
| Strn |
A |
G |
17: 78,965,390 (GRCm39) |
F634S |
probably damaging |
Het |
| Tmem101 |
C |
T |
11: 102,047,155 (GRCm39) |
G6R |
probably benign |
Het |
| Tmem199 |
C |
G |
11: 78,399,506 (GRCm39) |
G131R |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,055,267 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,681,929 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
C |
5: 136,086,247 (GRCm39) |
L61P |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,632 (GRCm39) |
Y75H |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,906 (GRCm39) |
I500K |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,124,272 (GRCm39) |
R400C |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,767,286 (GRCm39) |
P599L |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,464,557 (GRCm39) |
A1572S |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,680 (GRCm39) |
C246S |
possibly damaging |
Het |
| Zfp719 |
T |
A |
7: 43,239,834 (GRCm39) |
I474N |
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 |
|
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'- ATATGCCTGACTGGGGAGTG -3'
(R):5'- CATCTGAATTTGTGAGGGACAGAG -3'
Sequencing Primer
(F):5'- AGTGGACTCCCGCACATCTC -3'
(R):5'- TTTGTGAGGGACAGAGGAGAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation