Incidental Mutation 'R5639:Bicc1'
ID 440558
Institutional Source Beutler Lab
Gene Symbol Bicc1
Ensembl Gene ENSMUSG00000014329
Gene Name BicC family RNA binding protein 1
Synonyms Bic-C, jcpk
MMRRC Submission 043288-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5639 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 70758662-70995530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70776350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 701 (V701E)
Ref Sequence ENSEMBL: ENSMUSP00000119137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
AlphaFold Q99MQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000014473
AA Change: V783E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: V783E

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 probably damaging
Transcript: ENSMUST00000131445
AA Change: V701E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: V701E

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: V783E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: V783E

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: ENSMUST00000144740
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,769,866 (GRCm39) Y322H probably benign Het
Aldh1a1 C A 19: 20,600,786 (GRCm39) T201K probably damaging Het
Ankrd26 T C 6: 118,516,685 (GRCm39) E493G possibly damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Car11 T A 7: 45,352,045 (GRCm39) probably null Het
Ccn1 A C 3: 145,354,452 (GRCm39) V153G probably damaging Het
Celsr1 C G 15: 85,914,968 (GRCm39) V1002L probably damaging Het
Clpx T A 9: 65,237,112 (GRCm39) S597T probably benign Het
Cplx3 A T 9: 57,519,149 (GRCm39) F266I probably benign Het
Dmpk A G 7: 18,826,525 (GRCm39) M545V probably benign Het
Dnah7c C G 1: 46,778,828 (GRCm39) D3139E probably benign Het
Drd5 T A 5: 38,477,178 (GRCm39) V57D possibly damaging Het
Epc2 A G 2: 49,341,903 (GRCm39) N29S possibly damaging Het
Ercc3 T C 18: 32,398,767 (GRCm39) V682A probably damaging Het
Fam186a T C 15: 99,844,931 (GRCm39) K438E unknown Het
Farp1 T A 14: 121,512,794 (GRCm39) I764N probably damaging Het
Flvcr2 A T 12: 85,794,250 (GRCm39) I209F probably benign Het
Fndc3b C T 3: 27,480,302 (GRCm39) V1065M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gp6 C A 7: 4,397,130 (GRCm39) D102Y probably damaging Het
Gpc5 T C 14: 115,330,179 (GRCm39) L114P probably benign Het
Kcnq3 T A 15: 65,869,599 (GRCm39) E613V probably damaging Het
Krt74 T G 15: 101,665,195 (GRCm39) noncoding transcript Het
Lipe T C 7: 25,082,750 (GRCm39) T801A probably benign Het
Lrp1 A G 10: 127,429,708 (GRCm39) V454A probably damaging Het
Lsm14a T C 7: 34,052,935 (GRCm39) D338G probably damaging Het
Mctp1 T C 13: 77,172,902 (GRCm39) silent Het
Nlrp4a G A 7: 26,156,455 (GRCm39) A727T probably benign Het
Nrgn T C 9: 37,457,344 (GRCm39) S48G probably benign Het
Oga A G 19: 45,765,438 (GRCm39) I123T probably damaging Het
Or10k2 T C 8: 84,267,973 (GRCm39) S67P probably damaging Het
Or4a73 T C 2: 89,421,069 (GRCm39) Y130C probably damaging Het
Or51f23 A G 7: 102,453,200 (GRCm39) S172G probably benign Het
Pdia6 A G 12: 17,328,594 (GRCm39) E183G probably benign Het
Pign T A 1: 105,517,040 (GRCm39) I529F probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Samm50 T G 15: 84,098,329 (GRCm39) I456S probably benign Het
Sesn1 A G 10: 41,687,267 (GRCm39) R84G probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Spag17 G T 3: 99,963,482 (GRCm39) D1067Y probably damaging Het
Sptan1 C T 2: 29,881,005 (GRCm39) Q425* probably null Het
Srrm4 T A 5: 116,729,418 (GRCm39) I36F unknown Het
Tas1r2 A T 4: 139,387,107 (GRCm39) S189C probably damaging Het
Tep1 A G 14: 51,091,062 (GRCm39) V690A possibly damaging Het
Trmo T C 4: 46,382,073 (GRCm39) K348R probably benign Het
Trmu T A 15: 85,766,899 (GRCm39) M36K probably damaging Het
Ubr4 A G 4: 139,179,959 (GRCm39) T3380A possibly damaging Het
Unc79 A C 12: 103,137,831 (GRCm39) T2425P probably damaging Het
Vmn2r12 G A 5: 109,240,666 (GRCm39) T149I probably benign Het
Vwa3a A C 7: 120,389,366 (GRCm39) K68T probably damaging Het
Yif1a T C 19: 5,138,778 (GRCm39) probably null Het
Zbtb44 A T 9: 30,965,348 (GRCm39) T253S probably damaging Het
Zdhhc3 T C 9: 122,929,410 (GRCm39) Y75C probably damaging Het
Zfp189 T A 4: 49,530,153 (GRCm39) F419I probably benign Het
Zfp663 T C 2: 165,194,929 (GRCm39) D430G probably benign Het
Zfp709 T G 8: 72,643,835 (GRCm39) probably null 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
R0142:Bicc1 UTSW 10 70,761,200 (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
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'- AACACTGCAGCTGCTCTTTG -3'
(R):5'- GAATGAAGAAACCTTGTTCCCC -3'

Sequencing Primer
(F):5'- ACCCCACTTTATCATGTAGGATAC -3'
(R):5'- TGAAGAAACCTTGTTCCCCCTCAG -3'
Posted On 2016-11-08