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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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