Incidental Mutation 'R7176:Ice1'
ID |
558635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
MMRRC Submission |
045267-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R7176 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
70736808-70785958 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 70772525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000222568]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043493
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
G |
T |
17: 46,635,203 (GRCm39) |
H267N |
probably benign |
Het |
Abtb2 |
A |
G |
2: 103,539,720 (GRCm39) |
D695G |
probably benign |
Het |
Adam21 |
C |
T |
12: 81,607,022 (GRCm39) |
D247N |
possibly damaging |
Het |
Adnp |
T |
C |
2: 168,024,578 (GRCm39) |
N906D |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,416,594 (GRCm39) |
H1079Q |
probably damaging |
Het |
Aqp3 |
T |
A |
4: 41,095,202 (GRCm39) |
N60Y |
probably damaging |
Het |
Art4 |
T |
G |
6: 136,834,166 (GRCm39) |
T26P |
probably benign |
Het |
Arvcf |
T |
C |
16: 18,218,477 (GRCm39) |
L553P |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,243,908 (GRCm39) |
I1487N |
probably damaging |
Het |
Capn3 |
A |
T |
2: 120,334,973 (GRCm39) |
Y820F |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,401,941 (GRCm39) |
T39A |
probably damaging |
Het |
Ccdc168 |
A |
T |
1: 44,099,506 (GRCm39) |
S531T |
probably benign |
Het |
Ccdc18 |
T |
A |
5: 108,315,972 (GRCm39) |
C481S |
probably benign |
Het |
Ccnf |
A |
G |
17: 24,468,376 (GRCm39) |
I7T |
possibly damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cdkl4 |
A |
T |
17: 80,851,221 (GRCm39) |
Y160* |
probably null |
Het |
Celsr3 |
C |
T |
9: 108,722,961 (GRCm39) |
P2783S |
probably benign |
Het |
Cisd3 |
A |
T |
11: 97,576,959 (GRCm39) |
D11V |
probably benign |
Het |
Daxx |
A |
T |
17: 34,132,292 (GRCm39) |
H512L |
unknown |
Het |
Dip2b |
A |
G |
15: 100,067,199 (GRCm39) |
H567R |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,469,969 (GRCm39) |
A18E |
probably benign |
Het |
Eif3d |
A |
T |
15: 77,847,434 (GRCm39) |
V268D |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,004,162 (GRCm39) |
M625V |
unknown |
Het |
Foxn1 |
T |
C |
11: 78,251,693 (GRCm39) |
R513G |
possibly damaging |
Het |
Gemin5 |
C |
T |
11: 58,056,828 (GRCm39) |
V134I |
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,728,433 (GRCm39) |
R161G |
probably damaging |
Het |
Il1rl1 |
T |
C |
1: 40,485,766 (GRCm39) |
Y306H |
probably damaging |
Het |
Kbtbd7 |
A |
T |
14: 79,665,194 (GRCm39) |
E342V |
possibly damaging |
Het |
Kyat3 |
A |
T |
3: 142,443,600 (GRCm39) |
K404N |
possibly damaging |
Het |
Lins1 |
T |
C |
7: 66,363,553 (GRCm39) |
W483R |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,723,207 (GRCm39) |
I194T |
possibly damaging |
Het |
Mcm8 |
G |
T |
2: 132,661,992 (GRCm39) |
A137S |
probably benign |
Het |
Mdm1 |
C |
A |
10: 117,978,770 (GRCm39) |
Q12K |
probably damaging |
Het |
Mrgprb5 |
C |
A |
7: 47,818,059 (GRCm39) |
L225F |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,033,690 (GRCm39) |
H1068L |
|
Het |
Ngef |
A |
T |
1: 87,408,417 (GRCm39) |
V550E |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,458,064 (GRCm39) |
Q84* |
probably null |
Het |
Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
Ocln |
C |
A |
13: 100,651,590 (GRCm39) |
G327C |
probably damaging |
Het |
Ocln |
A |
C |
13: 100,651,591 (GRCm39) |
N326K |
probably benign |
Het |
Or10ag55-ps1 |
C |
T |
2: 87,115,378 (GRCm39) |
A248V |
probably damaging |
Het |
Otogl |
T |
C |
10: 107,614,772 (GRCm39) |
D1960G |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,987,331 (GRCm39) |
D530G |
possibly damaging |
Het |
Plod1 |
A |
T |
4: 147,997,744 (GRCm39) |
M655K |
probably benign |
Het |
Ppp4r3b |
A |
G |
11: 29,148,904 (GRCm39) |
N449D |
probably damaging |
Het |
Ppp6r3 |
G |
T |
19: 3,521,989 (GRCm39) |
T563K |
probably damaging |
Het |
Prepl |
T |
A |
17: 85,376,454 (GRCm39) |
L533F |
probably benign |
Het |
Rbl1 |
G |
A |
2: 157,030,245 (GRCm39) |
R421W |
probably damaging |
Het |
Rrp15 |
G |
A |
1: 186,453,730 (GRCm39) |
S239L |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,530,944 (GRCm39) |
S815P |
probably benign |
Het |
Scn7a |
G |
A |
2: 66,506,632 (GRCm39) |
T1419I |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,244,458 (GRCm39) |
|
probably null |
Het |
Shpk |
A |
G |
11: 73,113,814 (GRCm39) |
H409R |
probably benign |
Het |
Slamf6 |
A |
C |
1: 171,761,858 (GRCm39) |
N93T |
probably benign |
Het |
Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
Slc35g1 |
T |
A |
19: 38,391,771 (GRCm39) |
V351E |
probably damaging |
Het |
Smcr8 |
A |
T |
11: 60,669,772 (GRCm39) |
I307F |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,977,077 (GRCm39) |
I305T |
possibly damaging |
Het |
Speer4c1 |
T |
C |
5: 15,916,536 (GRCm39) |
T144A |
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,919,732 (GRCm39) |
T774I |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,269,925 (GRCm39) |
H1724R |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,055 (GRCm39) |
S2830P |
probably benign |
Het |
Vmn2r27 |
T |
A |
6: 124,168,995 (GRCm39) |
I712F |
probably benign |
Het |
Wdr59 |
T |
G |
8: 112,219,388 (GRCm39) |
Q223P |
|
Het |
Zfp28 |
T |
A |
7: 6,386,456 (GRCm39) |
C22S |
possibly damaging |
Het |
Zfp536 |
T |
G |
7: 37,180,276 (GRCm39) |
|
probably null |
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 |
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'- ATGGTGAGGAAATTTGCACCC -3'
(R):5'- TCCAGAGGAGTCACACAGTGAG -3'
Sequencing Primer
(F):5'- TTGCACCCAACAAAACAATTTTAGAG -3'
(R):5'- AGGTTTGCCCATTTCTGTTGAAG -3'
|
Posted On |
2019-06-26 |