Incidental Mutation 'R9345:Ice1'
| ID |
707770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ice1
|
| Ensembl Gene |
ENSMUSG00000034525 |
| Gene Name |
interactor of little elongation complex ELL subunit 1 |
| Synonyms |
BC018507 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R9345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70740758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 80
(F80L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
|
| AlphaFold |
E9Q286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043493
AA Change: F2150L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: F2150L
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,807,869 (GRCm39) |
I837F |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,103,866 (GRCm39) |
Y225C |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,378,056 (GRCm39) |
V710A |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,761,899 (GRCm39) |
|
probably benign |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,094,024 (GRCm39) |
S523T |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,971,588 (GRCm39) |
V973A |
possibly damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,691 (GRCm39) |
W9* |
probably null |
Het |
| Ccdc82 |
A |
G |
9: 13,281,891 (GRCm39) |
T439A |
probably benign |
Het |
| Ccne2 |
C |
A |
4: 11,199,420 (GRCm39) |
Q274K |
probably benign |
Het |
| Clec11a |
T |
C |
7: 43,956,189 (GRCm39) |
M1V |
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,541,017 (GRCm39) |
Y2370F |
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,467,699 (GRCm39) |
H228Y |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,036,101 (GRCm39) |
G283S |
probably benign |
Het |
| Dis3 |
T |
C |
14: 99,318,814 (GRCm39) |
T659A |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,060,071 (GRCm39) |
D456G |
possibly damaging |
Het |
| Efr3b |
T |
A |
12: 4,033,409 (GRCm39) |
K249* |
probably null |
Het |
| Emilin2 |
C |
T |
17: 71,581,539 (GRCm39) |
V396I |
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,706,735 (GRCm39) |
S947T |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,207,754 (GRCm39) |
C2472Y |
probably benign |
Het |
| Gm3159 |
A |
T |
14: 4,398,488 (GRCm38) |
I60L |
probably benign |
Het |
| Gm3402 |
A |
T |
5: 146,451,330 (GRCm39) |
N63Y |
probably damaging |
Het |
| Gm49355 |
C |
T |
14: 12,296,641 (GRCm38) |
|
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,528,287 (GRCm39) |
L199P |
probably damaging |
Het |
| Hck |
T |
A |
2: 152,992,904 (GRCm39) |
H470Q |
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,299,981 (GRCm39) |
Y413H |
probably benign |
Het |
| Ifrd1 |
G |
A |
12: 40,267,458 (GRCm39) |
P38S |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,788,479 (GRCm39) |
T431A |
probably benign |
Het |
| Kcnd3 |
A |
T |
3: 105,566,003 (GRCm39) |
I395F |
probably damaging |
Het |
| Kif20a |
A |
G |
18: 34,759,779 (GRCm39) |
E58G |
probably benign |
Het |
| Kras |
A |
T |
6: 145,192,442 (GRCm39) |
D30E |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,724,593 (GRCm39) |
A59V |
probably damaging |
Het |
| Lrrc20 |
T |
C |
10: 61,383,890 (GRCm39) |
L99P |
probably damaging |
Het |
| Mfn2 |
T |
C |
4: 147,966,649 (GRCm39) |
D514G |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,242,902 (GRCm39) |
E96G |
probably damaging |
Het |
| Nppb |
T |
G |
4: 148,070,518 (GRCm39) |
L29R |
probably damaging |
Het |
| Or51f1e |
C |
T |
7: 102,747,713 (GRCm39) |
A255V |
possibly damaging |
Het |
| Or5ak22 |
A |
G |
2: 85,230,097 (GRCm39) |
V260A |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,281 (GRCm39) |
H129R |
probably damaging |
Het |
| Pex11g |
T |
C |
8: 3,509,363 (GRCm39) |
N188S |
possibly damaging |
Het |
| Pla2g3 |
A |
G |
11: 3,442,170 (GRCm39) |
D410G |
probably benign |
Het |
| Pnma1 |
C |
A |
12: 84,194,232 (GRCm39) |
W157L |
probably benign |
Het |
| Pofut2 |
A |
G |
10: 77,103,090 (GRCm39) |
Y362C |
probably damaging |
Het |
| Ppp1r14c |
C |
A |
10: 3,373,567 (GRCm39) |
S126* |
probably null |
Het |
| Psg27 |
T |
C |
7: 18,299,081 (GRCm39) |
H80R |
probably benign |
Het |
| Rere |
T |
A |
4: 150,554,770 (GRCm39) |
V156D |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Samd8 |
G |
A |
14: 21,830,227 (GRCm39) |
V281I |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,404,401 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
A |
G |
7: 33,712,722 (GRCm39) |
L40P |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,147,708 (GRCm39) |
H1780L |
probably benign |
Het |
| Slc10a6 |
T |
C |
5: 103,754,521 (GRCm39) |
T337A |
probably benign |
Het |
| Slc44a4 |
A |
T |
17: 35,140,219 (GRCm39) |
D208V |
probably benign |
Het |
| Slco1c1 |
G |
T |
6: 141,493,553 (GRCm39) |
C363F |
probably benign |
Het |
| Smg5 |
T |
A |
3: 88,261,848 (GRCm39) |
L707Q |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,016,412 (GRCm39) |
D789E |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,464,648 (GRCm39) |
Y561C |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,183,097 (GRCm39) |
L316P |
probably benign |
Het |
| Thrsp |
T |
C |
7: 97,066,326 (GRCm39) |
T129A |
possibly damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,558,851 (GRCm39) |
H693R |
probably benign |
Het |
| Trim54 |
T |
G |
5: 31,294,478 (GRCm39) |
D335E |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,790,126 (GRCm39) |
D107G |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,595,089 (GRCm39) |
E954D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,538,595 (GRCm39) |
L34701P |
possibly damaging |
Het |
| Vmn1r119 |
A |
C |
7: 20,746,034 (GRCm39) |
V116G |
probably damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,346,769 (GRCm39) |
|
probably benign |
Het |
| Zc3h12c |
T |
A |
9: 52,028,010 (GRCm39) |
M470L |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,654,668 (GRCm39) |
K615E |
possibly 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 |
|
R8911:Ice1
|
UTSW |
13 |
70,740,787 (GRCm39) |
missense |
|
|
|
R8954:Ice1
|
UTSW |
13 |
70,758,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCAACTGACCCTTGAAGATAC -3'
(R):5'- AGCTGTCTCACTGAGTGGTAG -3'
Sequencing Primer
(F):5'- GCAACTGACCCTTGAAGATACAACAC -3'
(R):5'- TGGTAGCCCACACTGCAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation