Incidental Mutation 'R7101:Bicc1'
ID 550835
Institutional Source Beutler Lab
Gene Symbol Bicc1
Ensembl Gene ENSMUSG00000014329
Gene Name BicC family RNA binding protein 1
Synonyms Bic-C, jcpk
MMRRC Submission 045193-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 70758662-70995530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70766483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 913 (D913G)
Ref Sequence ENSEMBL: ENSMUSP00000123201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
AlphaFold Q99MQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000014473
AA Change: D913G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: D913G

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: D831G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: D831G

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: D913G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: D913G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,438 (GRCm39) D568G probably benign Het
Angpt1 T C 15: 42,386,965 (GRCm39) I130V probably benign Het
Ankrd11 G T 8: 123,622,194 (GRCm39) Q553K probably benign Het
Ankrd42 A T 7: 92,280,752 (GRCm39) H59Q possibly damaging Het
Ankrd52 C T 10: 128,218,249 (GRCm39) R318C probably damaging Het
Arrdc5 G A 17: 56,601,522 (GRCm39) T201M probably damaging Het
Atxn1l A G 8: 110,459,132 (GRCm39) S377P probably benign Het
Baz2a T C 10: 127,957,056 (GRCm39) F936S possibly damaging Het
Blnk T A 19: 40,961,082 (GRCm39) M21L probably benign Het
Cabin1 T C 10: 75,587,401 (GRCm39) H132R probably benign Het
Ccdc154 A G 17: 25,382,442 (GRCm39) H88R probably benign Het
Cfap20dc G T 14: 8,511,171 (GRCm38) S414R possibly damaging Het
Clic5 G T 17: 44,586,179 (GRCm39) A223S probably benign Het
Col28a1 T A 6: 8,014,795 (GRCm39) Y870F possibly damaging Het
Dhx37 G A 5: 125,502,006 (GRCm39) Q497* probably null Het
Dnah11 T C 12: 118,031,880 (GRCm39) T1763A probably benign Het
Dnajc13 T C 9: 104,042,221 (GRCm39) R2005G possibly damaging Het
Dop1a G A 9: 86,389,722 (GRCm39) G541S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Ephb3 C T 16: 21,037,268 (GRCm39) H455Y possibly damaging Het
Eri1 A C 8: 35,949,777 (GRCm39) C127G probably damaging Het
Faf1 A T 4: 109,783,153 (GRCm39) E548D probably benign Het
Gm3285 C A 10: 77,698,194 (GRCm39) C114* probably null Het
Gm9736 C T 10: 77,587,167 (GRCm39) V8I unknown Het
Gnptab A T 10: 88,276,174 (GRCm39) M1154L probably benign Het
Grin1 G A 2: 25,186,647 (GRCm39) T770M probably damaging Het
Haus1 A G 18: 77,854,570 (GRCm39) S67P possibly damaging Het
Homer1 C A 13: 93,492,562 (GRCm39) Q184K probably benign Het
Hook2 A G 8: 85,723,680 (GRCm39) T401A probably benign Het
Il6st G A 13: 112,631,907 (GRCm39) probably null Het
Kcnh8 A T 17: 53,212,038 (GRCm39) D612V probably damaging Het
Ltbr C G 6: 125,289,763 (GRCm39) E144Q probably benign Het
Mcf2l G T 8: 13,063,579 (GRCm39) R961L possibly damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo1b G T 1: 51,797,160 (GRCm39) Q961K probably benign Het
Myo1h C A 5: 114,480,258 (GRCm39) T531N Het
Ngly1 G A 14: 16,283,445 (GRCm38) R408Q probably damaging Het
Nup133 T C 8: 124,632,966 (GRCm39) E1055G possibly damaging Het
Nutm2 A G 13: 50,626,934 (GRCm39) K363R probably benign Het
Obox8 A T 7: 14,066,752 (GRCm39) Y97* probably null Het
Odc1 A G 12: 17,597,319 (GRCm39) D7G probably benign Het
Ogfod2 C T 5: 124,252,558 (GRCm39) T182I unknown Het
Or2t49 A G 11: 58,393,379 (GRCm39) M7T probably benign Het
Or4c111 A T 2: 88,844,324 (GRCm39) V28E possibly damaging Het
Or8b12b T C 9: 37,684,287 (GRCm39) S111P probably damaging Het
Or8b46 G A 9: 38,450,966 (GRCm39) M258I probably benign Het
Parp4 A G 14: 56,827,430 (GRCm39) D188G probably benign Het
Phactr2 T C 10: 13,122,922 (GRCm39) E400G probably benign Het
Phlpp1 G A 1: 106,100,397 (GRCm39) V222M possibly damaging Het
Ppp1r16b T C 2: 158,603,683 (GRCm39) V536A probably damaging Het
Prex2 T C 1: 11,223,833 (GRCm39) V719A possibly damaging Het
Prpf8 C T 11: 75,381,226 (GRCm39) A242V possibly damaging Het
Prr14l A G 5: 32,986,771 (GRCm39) L908P probably damaging Het
Prrc2b A G 2: 32,117,005 (GRCm39) N2146D possibly damaging Het
Rtkn T C 6: 83,126,993 (GRCm39) V333A possibly damaging Het
Samd8 T C 14: 21,825,442 (GRCm39) Y196H probably benign Het
Six5 A G 7: 18,828,784 (GRCm39) T75A probably benign Het
Slc35a4 T A 18: 36,814,591 (GRCm39) L42H probably damaging Het
Svs3a A T 2: 164,131,933 (GRCm39) D168V probably damaging Het
Themis T A 10: 28,637,422 (GRCm39) Y175* probably null Het
Tspan33 G T 6: 29,716,783 (GRCm39) R180L probably benign Het
Ttc28 C T 5: 111,232,958 (GRCm39) S145F probably damaging Het
Txn2 G A 15: 77,810,878 (GRCm39) T102I unknown Het
Usp34 T A 11: 23,376,183 (GRCm39) V1908E Het
Vmn2r101 A G 17: 19,809,350 (GRCm39) I160V probably null Het
Vmn2r104 A T 17: 20,250,358 (GRCm39) C638S possibly damaging Het
Wdfy4 C T 14: 32,682,777 (GRCm39) R3136Q Het
Zan C A 5: 137,396,552 (GRCm39) A4335S unknown Het
Zfp180 G T 7: 23,803,958 (GRCm39) V126F probably benign Het
Zfp429 T A 13: 67,538,931 (GRCm39) D171V possibly damaging Het
Zfp638 T C 6: 83,931,708 (GRCm39) I798T 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
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
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'- GCACTGTGGTATTAGAGGGC -3'
(R):5'- TCAGGGCTCAGCTTATCTTGG -3'

Sequencing Primer
(F):5'- CTGAGTAGTTGATGGGCAGAACC -3'
(R):5'- TAACCAGGGTCCTTTGGAAC -3'
Posted On 2019-05-15