Incidental Mutation 'R0142:Bicc1'
ID 22392
Institutional Source Beutler Lab
Gene Symbol Bicc1
Ensembl Gene ENSMUSG00000014329
Gene Name BicC family RNA binding protein 1
Synonyms Bic-C, jcpk
MMRRC Submission 038427-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0142 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 70758662-70995530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70761200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 937 (K937E)
Ref Sequence ENSEMBL: ENSMUSP00000123201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
AlphaFold Q99MQ1
Predicted Effect probably benign
Transcript: ENSMUST00000014473
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329

DomainStartEndE-ValueType
KH 47 129 2.69e0 SMART
KH 133 206 6.24e-18 SMART
KH 285 355 1.25e-8 SMART
low complexity region 384 402 N/A INTRINSIC
low complexity region 447 467 N/A INTRINSIC
low complexity region 480 499 N/A INTRINSIC
low complexity region 700 718 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
low complexity region 794 815 N/A INTRINSIC
SAM 872 938 2.04e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000058942
Predicted Effect probably benign
Transcript: ENSMUST00000131445
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329

DomainStartEndE-ValueType
SCOP:d1dtja_ 1 46 1e-2 SMART
Blast:KH 1 47 1e-22 BLAST
KH 51 124 6.24e-18 SMART
KH 203 273 1.25e-8 SMART
low complexity region 302 320 N/A INTRINSIC
low complexity region 365 385 N/A INTRINSIC
low complexity region 398 417 N/A INTRINSIC
low complexity region 618 636 N/A INTRINSIC
low complexity region 654 665 N/A INTRINSIC
low complexity region 712 733 N/A INTRINSIC
SAM 790 856 2.04e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143791
AA Change: K937E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: K937E

DomainStartEndE-ValueType
KH 47 129 2.69e0 SMART
KH 133 206 6.24e-18 SMART
KH 285 355 1.25e-8 SMART
low complexity region 384 402 N/A INTRINSIC
low complexity region 447 467 N/A INTRINSIC
low complexity region 480 499 N/A INTRINSIC
low complexity region 700 718 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
low complexity region 794 815 N/A INTRINSIC
SAM 872 938 4.26e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218757
Meta Mutation Damage Score 0.1486 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.6%
Validation Efficiency 92% (61/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous inactivation of this gene causes heteroxia, impaired nodal flow, ventricular septal defects, partial prenatal lethality and postnatal death due to renal failure. Chemically induced mutants develop kidney cysts and may show bulging abdomens, bile duct anomalies and cardiovascular defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T G 11: 110,079,467 (GRCm39) D1229A probably damaging Het
Abhd8 A C 8: 71,914,506 (GRCm39) F41V probably damaging Het
Ago4 T G 4: 126,410,725 (GRCm39) E222A probably benign Het
Ap3b2 T C 7: 81,122,828 (GRCm39) I470V probably damaging Het
Bcl9l C T 9: 44,418,409 (GRCm39) T749M probably benign Het
Bmi1 G A 2: 18,688,095 (GRCm39) probably null Het
Boc A C 16: 44,310,604 (GRCm39) I772S probably damaging Het
Brd10 A G 19: 29,695,654 (GRCm39) S1347P possibly damaging Het
C2 T A 17: 35,092,504 (GRCm39) I178F possibly damaging Het
Cacna1c G T 6: 118,580,843 (GRCm39) A1416E probably damaging Het
Chst10 A G 1: 38,910,810 (GRCm39) L118P probably damaging Het
Crybg1 G A 10: 43,875,059 (GRCm39) T683I possibly damaging Het
Cul5 C T 9: 53,546,350 (GRCm39) V314I probably damaging Het
Dnajc17 C A 2: 119,010,415 (GRCm39) R211I probably benign Het
Emilin1 A G 5: 31,071,264 (GRCm39) T16A probably benign Het
Ercc6l2 A C 13: 64,020,320 (GRCm39) probably benign Het
Fsd2 T A 7: 81,209,683 (GRCm39) D53V probably damaging Het
Galnt13 A G 2: 54,988,615 (GRCm39) D479G probably damaging Het
Grk3 A T 5: 113,062,919 (GRCm39) W643R probably damaging Het
Hdgf G A 3: 87,820,416 (GRCm39) A4T possibly damaging Het
Hnrnpr T A 4: 136,054,593 (GRCm39) V182E probably damaging Het
Ipo13 A C 4: 117,762,766 (GRCm39) L279R probably damaging Het
Itga9 C A 9: 118,465,654 (GRCm39) N169K probably damaging Het
Jph3 A G 8: 122,480,110 (GRCm39) T263A possibly damaging Het
Jph4 G T 14: 55,345,783 (GRCm39) Q625K probably benign Het
Kctd3 A C 1: 188,728,595 (GRCm39) probably null Het
Kif26b A T 1: 178,742,954 (GRCm39) S570C probably damaging Het
Klhl5 G A 5: 65,300,693 (GRCm39) W164* probably null Het
Lacc1 A T 14: 77,268,239 (GRCm39) H357Q probably benign Het
Lama2 A G 10: 27,063,841 (GRCm39) I1316T probably benign Het
Lcp2 C T 11: 34,032,418 (GRCm39) P332L probably damaging Het
Map3k6 A T 4: 132,978,257 (GRCm39) H1033L probably benign Het
Mfsd2b A G 12: 4,916,234 (GRCm39) V252A probably benign Het
Myo16 T A 8: 10,619,790 (GRCm39) I1447N probably benign Het
Myo19 G A 11: 84,785,429 (GRCm39) R224H probably damaging Het
Myo5a C T 9: 75,067,856 (GRCm39) H637Y probably benign Het
Nek10 C T 14: 14,861,560 (GRCm38) R539C possibly damaging Het
Nfix A T 8: 85,448,315 (GRCm39) V404E probably damaging Het
Nr1i2 T C 16: 38,073,368 (GRCm39) R203G probably benign Het
Nup210l G A 3: 90,079,420 (GRCm39) G968D probably damaging Het
Or10q1 A T 19: 13,726,619 (GRCm39) I50F probably benign Het
Or2ag15 G T 7: 106,340,972 (GRCm39) H56Q probably benign Het
Or8b37 A T 9: 37,959,406 (GRCm39) H296L probably benign Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Plcz1 A G 6: 139,953,423 (GRCm39) F398S probably damaging Het
Ppfibp2 C A 7: 107,343,384 (GRCm39) P808T probably damaging Het
Srpk2 T C 5: 23,732,928 (GRCm39) K239E probably damaging Het
Svep1 A G 4: 58,118,232 (GRCm39) V830A probably benign Het
Tesc A T 5: 118,194,635 (GRCm39) I149F possibly damaging Het
Thsd7a A G 6: 12,418,334 (GRCm39) W632R probably damaging Het
Tmprss9 A G 10: 80,730,212 (GRCm39) D704G possibly damaging Het
Tob1 T C 11: 94,105,423 (GRCm39) Y320H probably damaging Het
Trpm3 G T 19: 22,965,280 (GRCm39) D1582Y probably damaging Het
Ttc28 A G 5: 111,425,323 (GRCm39) K1716R probably benign Het
Uqcrfs1 A G 13: 30,724,925 (GRCm39) V205A probably benign Het
Usp29 G A 7: 6,965,334 (GRCm39) M392I probably benign Het
Uspl1 A T 5: 149,125,159 (GRCm39) Y22F possibly damaging Het
Virma C A 4: 11,548,783 (GRCm39) N1780K probably benign Het
Vmn1r56 C T 7: 5,199,372 (GRCm39) A82T probably benign Het
Vmn2r5 A T 3: 64,400,009 (GRCm39) C553S probably damaging Het
Vwce A T 19: 10,641,976 (GRCm39) R901W probably damaging Het
Wdpcp C A 11: 21,807,444 (GRCm39) probably null Het
Zfp423 A T 8: 88,506,968 (GRCm39) C1000* probably null Het
Zscan20 A G 4: 128,479,630 (GRCm39) F954L probably benign Het
Other mutations in Bicc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Bicc1 APN 10 70,796,987 (GRCm39) missense probably damaging 1.00
IGL01988:Bicc1 APN 10 70,792,006 (GRCm39) missense probably damaging 1.00
IGL02686:Bicc1 APN 10 70,779,190 (GRCm39) splice site probably benign
IGL02829:Bicc1 APN 10 70,794,710 (GRCm39) missense probably damaging 1.00
IGL03276:Bicc1 APN 10 70,789,268 (GRCm39) missense possibly damaging 0.76
IGL03354:Bicc1 APN 10 70,782,432 (GRCm39) missense probably benign 0.00
artemis UTSW 10 70,863,784 (GRCm39) missense probably damaging 0.99
Pebbles UTSW 10 70,783,730 (GRCm39) missense possibly damaging 0.95
PIT1430001:Bicc1 UTSW 10 70,793,511 (GRCm39) missense possibly damaging 0.94
R0095:Bicc1 UTSW 10 70,796,988 (GRCm39) missense probably damaging 1.00
R0184:Bicc1 UTSW 10 70,915,045 (GRCm39) missense probably benign
R0469:Bicc1 UTSW 10 70,915,045 (GRCm39) missense probably benign
R0485:Bicc1 UTSW 10 70,761,145 (GRCm39) missense probably damaging 0.96
R0520:Bicc1 UTSW 10 70,793,020 (GRCm39) missense probably damaging 0.96
R0884:Bicc1 UTSW 10 70,794,677 (GRCm39) missense probably damaging 1.00
R1678:Bicc1 UTSW 10 70,779,348 (GRCm39) missense probably damaging 1.00
R1892:Bicc1 UTSW 10 70,794,614 (GRCm39) missense probably damaging 1.00
R1943:Bicc1 UTSW 10 70,995,353 (GRCm39) missense probably damaging 1.00
R2220:Bicc1 UTSW 10 70,785,955 (GRCm39) missense probably damaging 1.00
R2240:Bicc1 UTSW 10 70,782,633 (GRCm39) critical splice donor site probably null
R2519:Bicc1 UTSW 10 70,766,474 (GRCm39) missense probably damaging 1.00
R4362:Bicc1 UTSW 10 70,779,204 (GRCm39) frame shift probably null
R4363:Bicc1 UTSW 10 70,779,204 (GRCm39) frame shift probably null
R4419:Bicc1 UTSW 10 70,782,804 (GRCm39) missense possibly damaging 0.73
R4697:Bicc1 UTSW 10 70,789,314 (GRCm39) missense possibly damaging 0.87
R4728:Bicc1 UTSW 10 70,771,661 (GRCm39) critical splice donor site probably null
R4765:Bicc1 UTSW 10 70,776,423 (GRCm39) missense probably damaging 1.00
R4838:Bicc1 UTSW 10 70,781,146 (GRCm39) missense possibly damaging 0.50
R5022:Bicc1 UTSW 10 70,783,713 (GRCm39) missense possibly damaging 0.79
R5023:Bicc1 UTSW 10 70,783,713 (GRCm39) missense possibly damaging 0.79
R5057:Bicc1 UTSW 10 70,783,713 (GRCm39) missense possibly damaging 0.79
R5082:Bicc1 UTSW 10 70,776,352 (GRCm39) missense probably benign 0.05
R5160:Bicc1 UTSW 10 70,768,066 (GRCm39) missense probably damaging 1.00
R5294:Bicc1 UTSW 10 70,783,730 (GRCm39) missense possibly damaging 0.95
R5639:Bicc1 UTSW 10 70,776,350 (GRCm39) missense probably damaging 1.00
R5749:Bicc1 UTSW 10 70,782,799 (GRCm39) missense probably benign 0.00
R6045:Bicc1 UTSW 10 70,792,911 (GRCm39) nonsense probably null
R6128:Bicc1 UTSW 10 70,776,313 (GRCm39) splice site probably null
R6277:Bicc1 UTSW 10 70,863,731 (GRCm39) missense possibly damaging 0.74
R6389:Bicc1 UTSW 10 70,794,752 (GRCm39) missense probably damaging 1.00
R7021:Bicc1 UTSW 10 70,796,978 (GRCm39) missense probably damaging 0.99
R7101:Bicc1 UTSW 10 70,766,483 (GRCm39) missense probably damaging 1.00
R7351:Bicc1 UTSW 10 70,783,730 (GRCm39) missense probably benign 0.18
R7352:Bicc1 UTSW 10 70,783,730 (GRCm39) missense probably benign 0.18
R7353:Bicc1 UTSW 10 70,783,730 (GRCm39) missense probably benign 0.18
R7366:Bicc1 UTSW 10 70,779,216 (GRCm39) missense probably benign 0.01
R7480:Bicc1 UTSW 10 70,779,306 (GRCm39) missense probably damaging 1.00
R7541:Bicc1 UTSW 10 70,782,434 (GRCm39) missense possibly damaging 0.82
R7544:Bicc1 UTSW 10 70,792,204 (GRCm39) missense possibly damaging 0.89
R7555:Bicc1 UTSW 10 70,792,121 (GRCm39) missense possibly damaging 0.75
R7663:Bicc1 UTSW 10 70,782,420 (GRCm39) missense probably benign
R7671:Bicc1 UTSW 10 70,792,997 (GRCm39) missense probably benign 0.01
R7747:Bicc1 UTSW 10 70,782,823 (GRCm39) missense probably benign
R8129:Bicc1 UTSW 10 70,915,033 (GRCm39) missense probably benign 0.01
R8270:Bicc1 UTSW 10 70,767,938 (GRCm39) missense probably damaging 0.99
R8525:Bicc1 UTSW 10 70,779,365 (GRCm39) missense possibly damaging 0.67
R8762:Bicc1 UTSW 10 70,779,216 (GRCm39) missense probably benign 0.03
R8849:Bicc1 UTSW 10 70,782,694 (GRCm39) missense probably benign 0.23
R9120:Bicc1 UTSW 10 70,776,862 (GRCm39) missense probably damaging 1.00
R9164:Bicc1 UTSW 10 70,781,094 (GRCm39) missense probably damaging 1.00
R9368:Bicc1 UTSW 10 70,785,917 (GRCm39) missense probably benign 0.13
R9452:Bicc1 UTSW 10 70,792,981 (GRCm39) missense probably damaging 0.99
R9497:Bicc1 UTSW 10 70,776,828 (GRCm39) critical splice donor site probably null
R9641:Bicc1 UTSW 10 70,863,772 (GRCm39) missense probably benign 0.01
R9672:Bicc1 UTSW 10 70,794,666 (GRCm39) missense probably damaging 1.00
RF013:Bicc1 UTSW 10 70,771,660 (GRCm39) critical splice donor site probably null
X0028:Bicc1 UTSW 10 70,781,166 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGTCCTGATACCAGACACTCCG -3'
(R):5'- AACAAACACCATTTGCCCTGGTTTC -3'

Sequencing Primer
(F):5'- TGCAGTGAAGACTGTCCAC -3'
(R):5'- GTAAGTGCCTCGCACACAG -3'
Posted On 2013-04-16