Incidental Mutation 'R0081:Ice1'
ID |
44297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
MMRRC Submission |
038368-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R0081 (G1)
|
Quality Score |
131 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 70767163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 108
(Y108*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000222568]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043493
AA Change: Y108*
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525 AA Change: Y108*
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: ENSMUST00000222568
|
Meta Mutation Damage Score |
0.9712 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.2%
- 10x: 88.5%
- 20x: 63.6%
|
Validation Efficiency |
94% (159/169) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,271,703 (GRCm39) |
D485G |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,137 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
A |
T |
5: 129,255,146 (GRCm39) |
I598F |
probably damaging |
Het |
Adh5 |
A |
G |
3: 138,157,174 (GRCm39) |
D245G |
probably benign |
Het |
Adra2b |
T |
C |
2: 127,206,212 (GRCm39) |
V238A |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,606,258 (GRCm39) |
V1188I |
possibly damaging |
Het |
Asap1 |
C |
T |
15: 63,971,413 (GRCm39) |
G905D |
probably damaging |
Het |
AW554918 |
T |
C |
18: 25,477,959 (GRCm39) |
V428A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,950,436 (GRCm39) |
S3226T |
probably benign |
Het |
Cdh17 |
A |
T |
4: 11,785,280 (GRCm39) |
|
probably benign |
Het |
Cyfip2 |
A |
T |
11: 46,144,825 (GRCm39) |
Y676* |
probably null |
Het |
Dcaf17 |
T |
A |
2: 70,908,812 (GRCm39) |
|
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,531,139 (GRCm39) |
F736L |
probably damaging |
Het |
Ddx41 |
A |
T |
13: 55,683,193 (GRCm39) |
H171Q |
possibly damaging |
Het |
Dennd5b |
G |
T |
6: 148,895,257 (GRCm39) |
Q1258K |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,295 (GRCm39) |
D137G |
probably damaging |
Het |
Dpyd |
G |
A |
3: 118,737,904 (GRCm39) |
V482I |
probably benign |
Het |
Erich6 |
A |
T |
3: 58,543,547 (GRCm39) |
|
probably benign |
Het |
Fam193b |
A |
G |
13: 55,702,024 (GRCm39) |
|
probably benign |
Het |
Foxp2 |
T |
C |
6: 15,405,643 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,577,252 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
A |
G |
11: 83,313,693 (GRCm39) |
S540P |
possibly damaging |
Het |
Glis2 |
T |
C |
16: 4,431,517 (GRCm39) |
V348A |
probably benign |
Het |
Gm14443 |
C |
A |
2: 175,011,729 (GRCm39) |
G239V |
probably damaging |
Het |
Gpr158 |
T |
C |
2: 21,831,528 (GRCm39) |
V876A |
probably damaging |
Het |
H1f8 |
A |
G |
6: 115,926,942 (GRCm39) |
E273G |
probably benign |
Het |
Hadh |
C |
T |
3: 131,029,285 (GRCm39) |
D245N |
probably damaging |
Het |
Hk2 |
A |
T |
6: 82,711,957 (GRCm39) |
|
probably benign |
Het |
Il10ra |
T |
G |
9: 45,167,247 (GRCm39) |
M435L |
probably benign |
Het |
Inpp5k |
GT |
G |
11: 75,521,973 (GRCm39) |
|
probably null |
Het |
Kank4 |
G |
T |
4: 98,666,567 (GRCm39) |
P627T |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,549,346 (GRCm39) |
|
probably benign |
Het |
Lipn |
A |
G |
19: 34,054,376 (GRCm39) |
I205V |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Myh1 |
T |
C |
11: 67,106,683 (GRCm39) |
M1255T |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,448,349 (GRCm39) |
K925N |
probably benign |
Het |
Myoz1 |
T |
A |
14: 20,699,622 (GRCm39) |
M239L |
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nf1 |
C |
A |
11: 79,344,805 (GRCm39) |
|
probably benign |
Het |
Npepl1 |
C |
T |
2: 173,957,879 (GRCm39) |
P239S |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,506 (GRCm39) |
K131R |
probably benign |
Het |
Or12k5 |
G |
A |
2: 36,895,462 (GRCm39) |
L55F |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,935 (GRCm39) |
F73L |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,893 (GRCm39) |
Y94* |
probably null |
Het |
Or1j20 |
T |
C |
2: 36,760,022 (GRCm39) |
L148S |
possibly damaging |
Het |
Or4c10 |
T |
A |
2: 89,760,423 (GRCm39) |
I90K |
possibly damaging |
Het |
Or4f7 |
A |
C |
2: 111,644,213 (GRCm39) |
I286S |
probably damaging |
Het |
Or5p52 |
C |
T |
7: 107,502,212 (GRCm39) |
T96I |
probably benign |
Het |
Or6c202 |
C |
T |
10: 128,996,707 (GRCm39) |
D49N |
possibly damaging |
Het |
Pde7a |
T |
C |
3: 19,295,697 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,903,519 (GRCm39) |
C591R |
probably benign |
Het |
Pkn2 |
T |
G |
3: 142,559,343 (GRCm39) |
K61Q |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,058,711 (GRCm39) |
G722C |
probably damaging |
Het |
Ppp1cb |
T |
C |
5: 32,644,958 (GRCm39) |
V263A |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,895,567 (GRCm39) |
N440K |
possibly damaging |
Het |
Rbm34 |
T |
A |
8: 127,676,234 (GRCm39) |
K340N |
probably damaging |
Het |
Samd3 |
T |
C |
10: 26,147,399 (GRCm39) |
|
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sigirr |
T |
C |
7: 140,671,285 (GRCm39) |
D399G |
probably damaging |
Het |
Slc17a7 |
A |
G |
7: 44,824,371 (GRCm39) |
E554G |
probably benign |
Het |
Smc3 |
A |
G |
19: 53,589,993 (GRCm39) |
|
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,819,703 (GRCm39) |
Y68H |
probably benign |
Het |
Tespa1 |
T |
A |
10: 130,196,719 (GRCm39) |
L219Q |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,740,673 (GRCm39) |
S436G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,581,423 (GRCm39) |
I23157F |
probably damaging |
Het |
Ubxn2b |
T |
A |
4: 6,203,875 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,401,044 (GRCm39) |
E125G |
probably benign |
Het |
Vmn2r78 |
A |
T |
7: 86,572,235 (GRCm39) |
D532V |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,320,222 (GRCm39) |
L1078I |
probably benign |
Het |
Vwce |
A |
T |
19: 10,641,453 (GRCm39) |
|
probably null |
Het |
Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
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 |
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 |
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'- TGCTGACATTAGTCCAACTCTGCAC -3'
(R):5'- GAACTGAGTAGCTCTTGCTCTGCC -3'
Sequencing Primer
(F):5'- gggggagaggagaggagag -3'
(R):5'- GAGGAACCTAGCCTACTCCTG -3'
|
Posted On |
2013-06-11 |