Incidental Mutation 'R8954:Ice1'
ID 681870
Institutional Source Beutler Lab
Gene Symbol Ice1
Ensembl Gene ENSMUSG00000034525
Gene Name interactor of little elongation complex ELL subunit 1
Synonyms BC018507
MMRRC Submission 068790-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R8954 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 70551707-70637634 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70610578 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 215 (N215S)
Ref Sequence ENSEMBL: ENSMUSP00000036482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043493] [ENSMUST00000222568]
AlphaFold E9Q286
Predicted Effect probably damaging
Transcript: ENSMUST00000043493
AA Change: N215S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: N215S

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
Predicted Effect probably benign
Transcript: ENSMUST00000222627
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik A T 7: 118,794,578 (GRCm38) T450S possibly damaging Het
9930021J03Rik A T 19: 29,718,726 (GRCm38) N1122K possibly damaging Het
Accsl T A 2: 93,857,954 (GRCm38) Y445F probably benign Het
Actn4 T C 7: 28,895,158 (GRCm38) D815G probably damaging Het
Adam4 T C 12: 81,420,372 (GRCm38) S492G possibly damaging Het
Anapc2 A G 2: 25,280,478 (GRCm38) K643E probably benign Het
Ankfy1 T A 11: 72,750,491 (GRCm38) I630K possibly damaging Het
Arhgap24 A G 5: 102,892,270 (GRCm38) T361A probably benign Het
Arhgef28 T C 13: 97,929,633 (GRCm38) M1571V probably benign Het
Arid5b A C 10: 68,101,980 (GRCm38) V196G possibly damaging Het
Art2b C A 7: 101,579,903 (GRCm38) probably null Het
Asxl3 G A 18: 22,517,750 (GRCm38) R932H probably damaging Het
B3galnt1 T C 3: 69,575,340 (GRCm38) N196S possibly damaging Het
C5ar2 C A 7: 16,237,808 (GRCm38) V65F possibly damaging Het
Cfap54 A T 10: 93,043,393 (GRCm38) L403Q probably damaging Het
Cfap74 G A 4: 155,436,730 (GRCm38) E620K Het
Chac1 C T 2: 119,353,355 (GRCm38) A146V probably damaging Het
Cpne2 T A 8: 94,558,146 (GRCm38) S317T probably damaging Het
Cux1 T A 5: 136,373,349 (GRCm38) K138* probably null Het
Cwc22 T A 2: 77,924,593 (GRCm38) Y214F probably damaging Het
Cyp2c39 A T 19: 39,536,753 (GRCm38) T167S probably benign Het
Cyp4a12a T A 4: 115,328,738 (GRCm38) Y414* probably null Het
Dap3 A T 3: 88,928,263 (GRCm38) D256E probably damaging Het
Dmxl2 C T 9: 54,473,872 (GRCm38) S110N probably benign Het
Dnhd1 A T 7: 105,694,779 (GRCm38) I1777L probably benign Het
Ecel1 G A 1: 87,148,627 (GRCm38) Q717* probably null Het
Eif3j2 G A 18: 43,477,634 (GRCm38) T38M possibly damaging Het
Fam205c G T 4: 42,871,753 (GRCm38) D207E probably damaging Het
Fat3 T C 9: 16,376,568 (GRCm38) H553R probably benign Het
Fcho2 T C 13: 98,777,477 (GRCm38) D204G probably benign Het
Frmpd1 A T 4: 45,284,702 (GRCm38) E1174D probably benign Het
Gabra6 T A 11: 42,315,132 (GRCm38) Y299F probably damaging Het
Gak G A 5: 108,629,652 (GRCm38) probably benign Het
Gapdhs T A 7: 30,733,166 (GRCm38) H214L probably damaging Het
Gapvd1 T C 2: 34,678,098 (GRCm38) Y1418C probably damaging Het
Gk5 C A 9: 96,177,509 (GRCm38) D471E probably benign Het
Glg1 A G 8: 111,187,895 (GRCm38) M419T probably damaging Het
Gm11639 T G 11: 105,018,699 (GRCm38) probably null Het
Hist3h2a T A 11: 58,954,959 (GRCm38) N74K possibly damaging Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ifitm10 T C 7: 142,328,563 (GRCm38) N157D probably benign Het
Itga11 A G 9: 62,769,263 (GRCm38) D911G possibly damaging Het
Kcnt1 A G 2: 25,894,326 (GRCm38) N247S probably benign Het
Kirrel T C 3: 87,089,866 (GRCm38) T265A probably benign Het
Klhl29 A T 12: 5,137,542 (GRCm38) L274H possibly damaging Het
Kmt2b T G 7: 30,574,215 (GRCm38) T2326P probably damaging Het
Lcn11 A G 2: 25,779,253 (GRCm38) S141G probably benign Het
Ldb3 T C 14: 34,555,344 (GRCm38) R358G probably null Het
Ldlr G A 9: 21,739,532 (GRCm38) D446N possibly damaging Het
Lipt2 T C 7: 100,160,242 (GRCm38) F179L probably damaging Het
Lmbrd1 G T 1: 24,706,040 (GRCm38) V154F possibly damaging Het
Malrd1 A G 2: 15,551,367 (GRCm38) I99V Het
Map1b T A 13: 99,434,227 (GRCm38) E662V unknown Het
Mfsd11 T C 11: 116,859,336 (GRCm38) S100P probably damaging Het
Mgst1 C T 6: 138,142,969 (GRCm38) probably benign Het
Mtf1 T A 4: 124,804,856 (GRCm38) V49D probably damaging Het
Mtss1 T C 15: 58,955,137 (GRCm38) D236G probably damaging Het
Myct1 C T 10: 5,604,208 (GRCm38) T25I probably damaging Het
Myh4 T A 11: 67,252,980 (GRCm38) F1089I possibly damaging Het
Nrxn1 A T 17: 90,590,187 (GRCm38) I835K probably damaging Het
Nsd3 T A 8: 25,673,378 (GRCm38) S595T probably damaging Het
Nt5c2 A T 19: 46,888,922 (GRCm38) S527T probably damaging Het
Olfr1066 C A 2: 86,455,548 (GRCm38) C241F probably damaging Het
Olfr195 T A 16: 59,148,956 (GRCm38) Y35* probably null Het
Olfr554 T C 7: 102,640,675 (GRCm38) V143A probably benign Het
Olfr661 T A 7: 104,688,693 (GRCm38) L226* probably null Het
Olfr869 A T 9: 20,137,368 (GRCm38) D84V probably damaging Het
Osbpl8 A G 10: 111,272,192 (GRCm38) S350G probably benign Het
Otoa G A 7: 121,145,518 (GRCm38) W833* probably null Het
Pcdhga6 T G 18: 37,708,487 (GRCm38) I420S probably damaging Het
Pmfbp1 A C 8: 109,531,801 (GRCm38) M666L probably benign Het
Pola2 T G 19: 5,948,424 (GRCm38) D370A probably damaging Het
Ppip5k1 C G 2: 121,323,220 (GRCm38) probably benign Het
Ppp1r12b A T 1: 134,834,462 (GRCm38) D815E probably benign Het
Ppp4r3b T A 11: 29,205,669 (GRCm38) V545E possibly damaging Het
Ptpn23 A T 9: 110,392,500 (GRCm38) N177K probably damaging Het
Rad9b A T 5: 122,344,230 (GRCm38) S147R probably benign Het
Rps20 T A 4: 3,834,617 (GRCm38) M82L probably benign Het
Samd9l C T 6: 3,374,577 (GRCm38) V895I probably damaging Het
Sbf2 T A 7: 110,438,911 (GRCm38) K396* probably null Het
Sbno2 G T 10: 80,057,962 (GRCm38) Q1198K probably damaging Het
Scp2d1 C T 2: 144,823,966 (GRCm38) T75I probably damaging Het
Shank3 T A 15: 89,549,228 (GRCm38) I1392N possibly damaging Het
Sidt1 A G 16: 44,262,027 (GRCm38) F532L probably benign Het
Smchd1 A T 17: 71,448,757 (GRCm38) V243D probably damaging Het
Smg1 T C 7: 118,206,992 (GRCm38) R185G probably damaging Het
Spag16 C T 1: 69,996,845 (GRCm38) S344F Het
Spsb3 A G 17: 24,891,519 (GRCm38) D440G probably damaging Het
Themis A C 10: 28,789,713 (GRCm38) S591R probably benign Het
Trpm1 G A 7: 64,208,341 (GRCm38) V177I probably damaging Het
Usp37 A G 1: 74,474,984 (GRCm38) probably null Het
Vmn1r171 C T 7: 23,633,100 (GRCm38) T238I probably damaging Het
Vmn2r33 T C 7: 7,551,656 (GRCm38) M633V probably benign Het
Vmn2r93 T A 17: 18,325,990 (GRCm38) L708H probably damaging Het
Wdr53 T A 16: 32,256,655 (GRCm38) V226E probably damaging Het
Wdr62 T A 7: 30,254,029 (GRCm38) I193F probably damaging Het
Zfp607b T A 7: 27,703,962 (GRCm38) D614E probably benign Het
Other mutations in Ice1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Ice1 APN 13 70,602,289 (GRCm38) missense probably damaging 1.00
IGL01155:Ice1 APN 13 70,604,082 (GRCm38) missense possibly damaging 0.93
IGL01298:Ice1 APN 13 70,604,904 (GRCm38) missense possibly damaging 0.93
IGL01797:Ice1 APN 13 70,623,946 (GRCm38) missense probably damaging 1.00
IGL02423:Ice1 APN 13 70,592,599 (GRCm38) missense probably damaging 1.00
IGL02583:Ice1 APN 13 70,605,735 (GRCm38) missense possibly damaging 0.80
IGL02794:Ice1 APN 13 70,609,159 (GRCm38) missense possibly damaging 0.95
IGL02882:Ice1 APN 13 70,624,474 (GRCm38) splice site probably benign
IGL02929:Ice1 APN 13 70,596,203 (GRCm38) missense probably damaging 1.00
IGL03343:Ice1 APN 13 70,602,929 (GRCm38) missense probably damaging 1.00
IGL03384:Ice1 APN 13 70,603,249 (GRCm38) missense probably benign 0.00
PIT4651001:Ice1 UTSW 13 70,623,921 (GRCm38) critical splice donor site probably null
R0078:Ice1 UTSW 13 70,603,348 (GRCm38) missense probably damaging 0.98
R0081:Ice1 UTSW 13 70,619,044 (GRCm38) nonsense probably null
R0281:Ice1 UTSW 13 70,604,047 (GRCm38) missense possibly damaging 0.64
R0557:Ice1 UTSW 13 70,601,191 (GRCm38) missense probably benign 0.08
R0973:Ice1 UTSW 13 70,602,427 (GRCm38) missense probably benign 0.04
R0973:Ice1 UTSW 13 70,602,427 (GRCm38) missense probably benign 0.04
R0974:Ice1 UTSW 13 70,602,427 (GRCm38) missense probably benign 0.04
R1033:Ice1 UTSW 13 70,606,594 (GRCm38) missense probably damaging 0.96
R1371:Ice1 UTSW 13 70,596,221 (GRCm38) missense probably damaging 1.00
R1525:Ice1 UTSW 13 70,605,410 (GRCm38) missense probably benign 0.01
R1539:Ice1 UTSW 13 70,605,904 (GRCm38) missense probably damaging 1.00
R1596:Ice1 UTSW 13 70,604,895 (GRCm38) missense possibly damaging 0.94
R1603:Ice1 UTSW 13 70,603,353 (GRCm38) missense probably benign 0.01
R1680:Ice1 UTSW 13 70,605,448 (GRCm38) missense probably benign 0.00
R1737:Ice1 UTSW 13 70,606,325 (GRCm38) missense probably damaging 0.99
R1766:Ice1 UTSW 13 70,604,442 (GRCm38) missense possibly damaging 0.78
R1774:Ice1 UTSW 13 70,604,553 (GRCm38) missense probably damaging 1.00
R1834:Ice1 UTSW 13 70,615,338 (GRCm38) missense probably damaging 0.99
R1840:Ice1 UTSW 13 70,606,218 (GRCm38) missense probably benign 0.00
R1898:Ice1 UTSW 13 70,602,307 (GRCm38) missense possibly damaging 0.83
R1930:Ice1 UTSW 13 70,605,083 (GRCm38) missense probably benign 0.18
R2000:Ice1 UTSW 13 70,602,427 (GRCm38) missense possibly damaging 0.58
R2106:Ice1 UTSW 13 70,605,622 (GRCm38) missense probably benign 0.00
R2293:Ice1 UTSW 13 70,614,957 (GRCm38) missense probably damaging 1.00
R2377:Ice1 UTSW 13 70,602,780 (GRCm38) missense probably damaging 1.00
R2909:Ice1 UTSW 13 70,596,173 (GRCm38) missense probably damaging 1.00
R2965:Ice1 UTSW 13 70,602,578 (GRCm38) missense probably benign 0.31
R3730:Ice1 UTSW 13 70,603,240 (GRCm38) missense probably damaging 1.00
R3886:Ice1 UTSW 13 70,605,370 (GRCm38) missense probably benign 0.00
R3914:Ice1 UTSW 13 70,606,084 (GRCm38) missense probably benign 0.30
R4051:Ice1 UTSW 13 70,603,527 (GRCm38) missense probably damaging 1.00
R4321:Ice1 UTSW 13 70,603,110 (GRCm38) missense possibly damaging 0.83
R4499:Ice1 UTSW 13 70,609,027 (GRCm38) missense possibly damaging 0.87
R4729:Ice1 UTSW 13 70,606,384 (GRCm38) missense probably damaging 1.00
R5078:Ice1 UTSW 13 70,604,850 (GRCm38) missense probably benign
R5431:Ice1 UTSW 13 70,592,650 (GRCm38) missense probably damaging 1.00
R5722:Ice1 UTSW 13 70,615,100 (GRCm38) missense possibly damaging 0.95
R5881:Ice1 UTSW 13 70,606,501 (GRCm38) missense probably benign 0.04
R5914:Ice1 UTSW 13 70,606,377 (GRCm38) missense possibly damaging 0.93
R6171:Ice1 UTSW 13 70,606,731 (GRCm38) missense probably benign
R6253:Ice1 UTSW 13 70,603,164 (GRCm38) missense probably damaging 1.00
R6274:Ice1 UTSW 13 70,594,839 (GRCm38) missense probably damaging 0.97
R6518:Ice1 UTSW 13 70,606,309 (GRCm38) missense possibly damaging 0.89
R6665:Ice1 UTSW 13 70,603,473 (GRCm38) missense possibly damaging 0.85
R6714:Ice1 UTSW 13 70,615,263 (GRCm38) splice site probably null
R6853:Ice1 UTSW 13 70,603,302 (GRCm38) missense possibly damaging 0.92
R6917:Ice1 UTSW 13 70,594,894 (GRCm38) missense probably damaging 1.00
R7032:Ice1 UTSW 13 70,596,164 (GRCm38) missense probably damaging 0.99
R7176:Ice1 UTSW 13 70,624,406 (GRCm38) critical splice donor site probably null
R7352:Ice1 UTSW 13 70,606,102 (GRCm38) nonsense probably null
R7445:Ice1 UTSW 13 70,596,167 (GRCm38) missense
R7646:Ice1 UTSW 13 70,589,797 (GRCm38) missense possibly damaging 0.93
R7647:Ice1 UTSW 13 70,589,797 (GRCm38) missense possibly damaging 0.93
R7648:Ice1 UTSW 13 70,589,797 (GRCm38) missense possibly damaging 0.93
R7650:Ice1 UTSW 13 70,605,483 (GRCm38) missense probably damaging 1.00
R7650:Ice1 UTSW 13 70,589,797 (GRCm38) missense possibly damaging 0.93
R7812:Ice1 UTSW 13 70,603,005 (GRCm38) missense possibly damaging 0.63
R8061:Ice1 UTSW 13 70,603,732 (GRCm38) missense probably damaging 1.00
R8129:Ice1 UTSW 13 70,606,201 (GRCm38) missense probably benign 0.02
R8283:Ice1 UTSW 13 70,604,430 (GRCm38) missense probably damaging 0.97
R8303:Ice1 UTSW 13 70,606,407 (GRCm38) missense probably benign 0.04
R8444:Ice1 UTSW 13 70,604,376 (GRCm38) missense probably damaging 1.00
R8474:Ice1 UTSW 13 70,604,447 (GRCm38) missense probably benign 0.42
R8751:Ice1 UTSW 13 70,602,891 (GRCm38) missense probably damaging 1.00
R8887:Ice1 UTSW 13 70,602,931 (GRCm38) missense probably damaging 1.00
R8911:Ice1 UTSW 13 70,592,668 (GRCm38) missense
R9345:Ice1 UTSW 13 70,592,639 (GRCm38) missense
R9438:Ice1 UTSW 13 70,606,315 (GRCm38) missense probably benign 0.04
R9452:Ice1 UTSW 13 70,596,343 (GRCm38) missense probably damaging 1.00
X0026:Ice1 UTSW 13 70,592,602 (GRCm38) missense probably damaging 1.00
Z1176:Ice1 UTSW 13 70,605,201 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTGACAGTTATCTGCTGG -3'
(R):5'- CAAACAAGCCTATGTCGAGTC -3'

Sequencing Primer
(F):5'- CTGGGGTTTAGAGTCACACTCC -3'
(R):5'- AACAAGCCTATGTCGAGTCTTGGG -3'
Posted On 2021-08-31