Incidental Mutation 'R9641:Bicc1'
ID 726002
Institutional Source Beutler Lab
Gene Symbol Bicc1
Ensembl Gene ENSMUSG00000014329
Gene Name BicC family RNA binding protein 1
Synonyms Bic-C, jcpk
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9641 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 70758662-70995530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70863772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 90 (I90T)
Ref Sequence ENSEMBL: ENSMUSP00000123201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
AlphaFold Q99MQ1
Predicted Effect
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: I90T

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 benign
Transcript: ENSMUST00000131445
AA Change: I8T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: I8T

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 benign
Transcript: ENSMUST00000143791
AA Change: I90T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: I90T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,430,498 (GRCm39) F52L possibly damaging Het
Abca16 T C 7: 120,126,308 (GRCm39) C1156R possibly damaging Het
Abcg3 A C 5: 105,084,483 (GRCm39) S571A probably benign Het
Abi3 C A 11: 95,724,503 (GRCm39) L259F unknown Het
Adam19 A T 11: 46,027,149 (GRCm39) D594V probably damaging Het
Adam34 C T 8: 44,104,076 (GRCm39) S523N probably damaging Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Adamts14 A T 10: 61,106,829 (GRCm39) V97E probably damaging Het
Adipor1 T C 1: 134,355,878 (GRCm39) Y226H probably damaging Het
Alox12e T C 11: 70,212,261 (GRCm39) Y139C probably damaging Het
Ankrd53 A G 6: 83,740,692 (GRCm39) D160G possibly damaging Het
Ap1m1 A T 8: 73,003,606 (GRCm39) Y94F probably damaging Het
Arhgef28 A C 13: 98,078,983 (GRCm39) D1314E probably benign Het
Celf6 A G 9: 59,485,833 (GRCm39) D58G probably damaging Het
Cfap74 T C 4: 155,549,054 (GRCm39) S38P unknown Het
Cps1 A G 1: 67,234,342 (GRCm39) I910V probably benign Het
Cracdl C T 1: 37,663,592 (GRCm39) A769T possibly damaging Het
Crybg2 C T 4: 133,816,620 (GRCm39) Q1353* probably null Het
Cyp4f39 T C 17: 32,705,982 (GRCm39) Y358H probably damaging Het
Dcp1a T A 14: 30,241,132 (GRCm39) I314N probably damaging Het
Dgki A C 6: 37,126,489 (GRCm39) W164G probably damaging Het
Dnah8 A G 17: 30,932,029 (GRCm39) I1466V probably benign Het
Efcab6 T A 15: 83,763,676 (GRCm39) R1219W probably damaging Het
Faap24 A T 7: 35,094,494 (GRCm39) F102Y probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Frem1 C T 4: 82,877,653 (GRCm39) G1308D probably damaging Het
Hectd1 T C 12: 51,816,047 (GRCm39) T1347A probably benign Het
Hipk3 A T 2: 104,267,376 (GRCm39) H620Q probably benign Het
Hpd A G 5: 123,310,052 (GRCm39) S391P probably benign Het
Ino80 A G 2: 119,275,965 (GRCm39) V437A probably benign Het
Itgax G T 7: 127,741,152 (GRCm39) G785C probably damaging Het
Kcnk18 C T 19: 59,223,266 (GRCm39) T137I probably damaging Het
Kif16b A G 2: 142,542,589 (GRCm39) F236L probably benign Het
Lamb1 T C 12: 31,337,457 (GRCm39) M396T probably damaging Het
Lrfn5 C A 12: 61,886,540 (GRCm39) N109K probably damaging Het
Lrrc15 T A 16: 30,093,006 (GRCm39) N111I probably damaging Het
Lrrk2 A T 15: 91,671,251 (GRCm39) I2011F possibly damaging Het
Lsr A G 7: 30,658,285 (GRCm39) I336T probably damaging Het
Mettl21e T A 1: 44,250,351 (GRCm39) R18S probably benign Het
Mrpl22 T C 11: 58,068,047 (GRCm39) L115P probably damaging Het
N4bp2 T A 5: 65,948,035 (GRCm39) S222T probably benign Het
Nat2 A G 8: 67,954,522 (GRCm39) T211A probably benign Het
Nbeal1 T A 1: 60,350,247 (GRCm39) I2432N probably damaging Het
Neb A G 2: 52,112,783 (GRCm39) I1158T Het
Nrip3 C T 7: 109,362,793 (GRCm39) E164K probably damaging Het
Obox6 G A 7: 15,568,742 (GRCm39) Q45* probably null Het
Ola1 T C 2: 73,033,784 (GRCm39) N44D probably benign Het
Or1x6 C T 11: 50,939,207 (GRCm39) T91M probably benign Het
Or2y1c T C 11: 49,361,509 (GRCm39) F177S probably damaging Het
Or5b111 A T 19: 13,291,100 (GRCm39) M183K probably damaging Het
Or5d39 A T 2: 87,980,255 (GRCm39) I36N possibly damaging Het
Or5p81 A T 7: 108,267,516 (GRCm39) N298Y probably damaging Het
Or6ae1 A G 7: 139,742,771 (GRCm39) F31L probably benign Het
Or8b51 T A 9: 38,568,915 (GRCm39) M258L probably benign Het
Pde10a A G 17: 9,197,816 (GRCm39) K753R Het
Phldb1 T C 9: 44,627,839 (GRCm39) D202G probably damaging Het
Pik3cb T C 9: 98,955,789 (GRCm39) N376S probably benign Het
Plekhh2 A G 17: 84,874,130 (GRCm39) N472D probably damaging Het
Ppp4r4 T A 12: 103,567,811 (GRCm39) F708Y probably benign Het
Rnf157 A G 11: 116,303,576 (GRCm39) V12A probably benign Het
Saa3 T C 7: 46,364,494 (GRCm39) I11V probably benign Het
Sall2 T C 14: 52,550,882 (GRCm39) E771G probably damaging Het
Sar1b C T 11: 51,670,573 (GRCm39) T39I probably damaging Het
Scn10a A T 9: 119,445,869 (GRCm39) L1428Q possibly damaging Het
Sema3f A G 9: 107,565,454 (GRCm39) I213T unknown Het
Serpina3m C T 12: 104,360,085 (GRCm39) Q386* probably null Het
Sh3gl3 G A 7: 81,909,370 (GRCm39) G26R probably damaging Het
Shq1 T C 6: 100,550,633 (GRCm39) E435G probably damaging Het
Sidt2 G T 9: 45,864,495 (GRCm39) A78E probably benign Het
Sin3b A G 8: 73,477,187 (GRCm39) Y818C probably damaging Het
Smarca2 C T 19: 26,656,498 (GRCm39) L825F possibly damaging Het
Srgn T A 10: 62,330,884 (GRCm39) M74L probably benign Het
Tbc1d22b A C 17: 29,813,747 (GRCm39) D360A possibly damaging Het
Tbx4 A G 11: 85,803,128 (GRCm39) R335G probably damaging Het
Tmem144 T C 3: 79,734,200 (GRCm39) N168D probably benign Het
Trip11 G A 12: 101,859,957 (GRCm39) Q307* probably null Het
Ttyh2 T C 11: 114,598,516 (GRCm39) Y296H probably damaging Het
Vmn1r236 G T 17: 21,507,043 (GRCm39) V54F probably benign Het
Xrra1 A C 7: 99,561,088 (GRCm39) H443P probably benign Het
Zc3h12a T C 4: 125,014,852 (GRCm39) T211A probably damaging Het
Zfp386 T G 12: 116,023,330 (GRCm39) D349E probably benign Het
Zkscan16 T A 4: 58,956,577 (GRCm39) H286Q probably benign Het
Znrf2 C T 6: 54,861,788 (GRCm39) P233L probably damaging 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
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
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'- TTTTCTGCTGCCACAAAGC -3'
(R):5'- AGGGCTTAGGAAAACACACC -3'

Sequencing Primer
(F):5'- AACAGAACTGAGCTCCAG -3'
(R):5'- GAACGTGTGAAAATCTTATCTGT -3'
Posted On 2022-09-12