Incidental Mutation 'R8129:Ice1'
ID |
631926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ice1
|
Ensembl Gene |
ENSMUSG00000034525 |
Gene Name |
interactor of little elongation complex ELL subunit 1 |
Synonyms |
BC018507 |
MMRRC Submission |
067558-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
R8129 (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 G
at 70754320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 589
(S589P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043493]
[ENSMUST00000220637]
[ENSMUST00000222568]
|
AlphaFold |
E9Q286 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043493
AA Change: S589P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000036482 Gene: ENSMUSG00000034525 AA Change: S589P
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: 99.8%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 85.2%
|
Validation Efficiency |
98% (99/101) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
C |
2: 35,266,187 (GRCm39) |
D161G |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,140,559 (GRCm39) |
|
probably null |
Het |
Ahnak |
A |
T |
19: 8,977,464 (GRCm39) |
M1L |
not run |
Het |
Appl1 |
A |
G |
14: 26,671,466 (GRCm39) |
S329P |
possibly damaging |
Het |
Bach1 |
C |
T |
16: 87,519,314 (GRCm39) |
R535W |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,915,033 (GRCm39) |
D77G |
probably benign |
Het |
Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
Cdhr2 |
G |
T |
13: 54,864,208 (GRCm39) |
|
probably null |
Het |
Col25a1 |
T |
C |
3: 130,290,050 (GRCm39) |
S247P |
probably damaging |
Het |
Commd8 |
T |
C |
5: 72,320,164 (GRCm39) |
M126V |
unknown |
Het |
Dpysl4 |
C |
T |
7: 138,666,076 (GRCm39) |
T13M |
probably benign |
Het |
Epc1 |
A |
G |
18: 6,439,634 (GRCm39) |
V776A |
possibly damaging |
Het |
Fancg |
G |
T |
4: 43,005,036 (GRCm39) |
|
probably null |
Het |
Fdx1 |
T |
C |
9: 51,859,926 (GRCm39) |
T135A |
probably benign |
Het |
Fgf7 |
T |
C |
2: 125,877,765 (GRCm39) |
V44A |
probably benign |
Het |
Fgfr3 |
A |
T |
5: 33,891,250 (GRCm39) |
M523L |
probably damaging |
Het |
Focad |
A |
T |
4: 88,151,000 (GRCm39) |
H548L |
unknown |
Het |
Ftsj3 |
C |
A |
11: 106,144,657 (GRCm39) |
V111F |
probably benign |
Het |
Gm28168 |
T |
A |
1: 117,857,483 (GRCm39) |
D12E |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,844 (GRCm39) |
T488A |
probably benign |
Het |
Hormad2 |
C |
A |
11: 4,296,648 (GRCm39) |
V279L |
probably benign |
Het |
Hs6st1 |
A |
G |
1: 36,108,105 (GRCm39) |
K123E |
probably damaging |
Het |
Il1r1 |
T |
A |
1: 40,341,447 (GRCm39) |
H286Q |
probably benign |
Het |
Il1rl1 |
T |
A |
1: 40,490,987 (GRCm39) |
C423S |
probably damaging |
Het |
L1td1 |
A |
T |
4: 98,621,563 (GRCm39) |
M42L |
probably benign |
Het |
Large1 |
T |
C |
8: 73,542,585 (GRCm39) |
D713G |
probably damaging |
Het |
Llgl2 |
C |
A |
11: 115,741,737 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,260,624 (GRCm39) |
V4536M |
possibly damaging |
Het |
Map3k19 |
A |
C |
1: 127,750,420 (GRCm39) |
L977R |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,399,026 (GRCm39) |
D1617V |
|
Het |
Nek3 |
A |
G |
8: 22,639,908 (GRCm39) |
I189T |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,355,068 (GRCm39) |
|
probably null |
Het |
Omd |
A |
C |
13: 49,745,565 (GRCm39) |
D325A |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,939,210 (GRCm39) |
R92K |
probably benign |
Het |
Or4a76 |
C |
A |
2: 89,460,792 (GRCm39) |
G150V |
probably damaging |
Het |
Or52h7 |
A |
G |
7: 104,213,584 (GRCm39) |
Y52C |
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,508 (GRCm39) |
Y16F |
probably damaging |
Het |
Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,094,832 (GRCm39) |
D447G |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,262,944 (GRCm39) |
W1032R |
probably damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,995,263 (GRCm39) |
Y524C |
probably benign |
Het |
Ppp4r3b |
T |
C |
11: 29,159,364 (GRCm39) |
Y573H |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,096,200 (GRCm39) |
I568T |
probably benign |
Het |
Ptpn22 |
G |
A |
3: 103,797,600 (GRCm39) |
|
probably null |
Het |
Rbm12b1 |
A |
G |
4: 12,145,549 (GRCm39) |
D507G |
probably damaging |
Het |
Rdh7 |
A |
G |
10: 127,723,370 (GRCm39) |
S162P |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,775 (GRCm39) |
A378V |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,317,350 (GRCm39) |
F738S |
probably damaging |
Het |
Sdk1 |
C |
A |
5: 142,177,648 (GRCm39) |
N2031K |
probably benign |
Het |
Serpina3c |
A |
T |
12: 104,118,056 (GRCm39) |
L94Q |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,381,834 (GRCm39) |
S333G |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,822,658 (GRCm39) |
V88A |
possibly damaging |
Het |
Smarcad1 |
G |
T |
6: 65,044,078 (GRCm39) |
D217Y |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,765,390 (GRCm39) |
F244S |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,443,959 (GRCm39) |
D2156N |
possibly damaging |
Het |
Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
Tap2 |
C |
T |
17: 34,424,672 (GRCm39) |
T135I |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,161,254 (GRCm39) |
V20F |
probably damaging |
Het |
Tes |
A |
T |
6: 17,065,242 (GRCm39) |
|
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
Trim44 |
A |
G |
2: 102,230,848 (GRCm39) |
V61A |
unknown |
Het |
Ttll5 |
T |
C |
12: 85,937,858 (GRCm39) |
|
probably null |
Het |
Tubgcp4 |
C |
T |
2: 121,004,109 (GRCm39) |
T50I |
possibly damaging |
Het |
Txndc17 |
G |
A |
11: 72,098,588 (GRCm39) |
V47M |
probably damaging |
Het |
Ubp1 |
A |
G |
9: 113,804,417 (GRCm39) |
E494G |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,628,487 (GRCm39) |
S936T |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,603,154 (GRCm39) |
D585G |
probably damaging |
Het |
Wdtc1 |
A |
T |
4: 133,031,460 (GRCm39) |
|
probably null |
Het |
Zfp292 |
A |
G |
4: 34,807,386 (GRCm39) |
M1891T |
probably damaging |
Het |
Zfp84 |
A |
C |
7: 29,475,862 (GRCm39) |
I185L |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,808,956 (GRCm39) |
F364L |
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 |
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'- ACATGCTGTTGGCTCAGACC -3'
(R):5'- GCAAGAGGACCTTCAGTGAACTC -3'
Sequencing Primer
(F):5'- TGTTGGCTCAGACCGCAGAAG -3'
(R):5'- GGACCTTCAGTGAACTCATAGAATC -3'
|
Posted On |
2020-06-30 |