Incidental Mutation 'PIT1430001:Bicc1'
ID499888
Institutional Source Beutler Lab
Gene Symbol Bicc1
Ensembl Gene ENSMUSG00000014329
Gene NameBicC family RNA binding protein 1
SynonymsBic-C, jcpk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #PIT1430001 (G1)
Quality Score100
Status Validated
Chromosome10
Chromosomal Location70922832-71159700 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70957681 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 196 (S196P)
Ref Sequence ENSEMBL: ENSMUSP00000123201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014473
AA Change: S196P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: S196P

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 possibly damaging
Transcript: ENSMUST00000131445
AA Change: S114P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: S114P

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 possibly damaging
Transcript: ENSMUST00000143791
AA Change: S196P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: S196P

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
Meta Mutation Damage Score 0.1132 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik T A 13: 58,385,013 K48* probably null Het
2700049A03Rik A T 12: 71,160,386 I524F possibly damaging Het
4930511M06Rik T C 18: 57,384,169 probably benign Het
9330159F19Rik T A 10: 29,224,715 N361K probably damaging Het
Akap9 A G 5: 4,029,849 D1867G probably damaging Het
Ankrd17 T C 5: 90,252,973 T1687A possibly damaging Het
Ap1m2 G A 9: 21,298,252 P376L probably damaging Het
Cacnb2 C T 2: 14,971,601 R228* probably null Het
Ccdc43 A G 11: 102,692,150 S83P probably damaging Het
Ccdc94 C T 17: 55,964,479 probably benign Het
Cdc42bpg T A 19: 6,322,552 probably null Het
Cdh16 C A 8: 104,617,639 M89I probably benign Het
Cecr2 A C 6: 120,758,479 H892P probably benign Het
Chd5 T A 4: 152,370,637 S859T probably damaging Het
Chrd G A 16: 20,738,998 probably null Het
Chrna2 T A 14: 66,149,737 L444Q probably benign Het
Ckap4 A G 10: 84,527,766 S478P probably damaging Het
Cldn4 A T 5: 134,946,660 M29K possibly damaging Het
Clpb T C 7: 101,786,719 V615A possibly damaging Het
Cyb5r4 G A 9: 87,038,738 G142E probably benign Het
Cyp1a1 A G 9: 57,700,911 Y274C probably benign Het
D2hgdh T C 1: 93,826,279 probably benign Het
Dgkh T A 14: 78,581,513 E919V probably damaging Het
Dnah1 A G 14: 31,262,580 Y3916H probably damaging Het
Dpp10 A G 1: 123,341,182 probably benign Het
Egfr A G 11: 16,910,214 T1043A probably benign Het
Elp5 T G 11: 69,967,109 probably null Het
Emilin3 A T 2: 160,908,482 M449K possibly damaging Het
Epb41l4a T G 18: 33,797,347 T686P probably damaging Het
Eppk1 A G 15: 76,105,236 C2482R probably benign Het
Eps8l3 T C 3: 107,884,867 L370P probably damaging Het
Erbin A T 13: 103,859,509 S228R probably damaging Het
Fam149a C T 8: 45,351,706 E280K probably benign Het
Fam78b T C 1: 167,001,744 I60T probably benign Het
Fank1 A T 7: 133,876,800 R197* probably null Het
Fbxo21 C T 5: 117,977,866 S83F possibly damaging Het
Fbxo4 G C 15: 3,979,300 T42R probably benign Het
Fhad1 C G 4: 141,909,749 E1135D probably damaging Het
Fmo1 T A 1: 162,830,053 E506D probably benign Het
Glipr1l2 A T 10: 112,106,840 T231S probably benign Het
Gm11651 C G 11: 105,973,091 probably benign Het
Gm16043 A G 6: 8,426,969 probably null Het
Gm5615 A T 9: 36,534,999 L39* probably null Het
Gm572 T G 4: 148,671,393 W389G unknown Het
Gpc6 G A 14: 117,951,182 W409* probably null Het
Gpr124 A G 8: 27,114,188 M469V possibly damaging Het
Gpr155 T C 2: 73,370,138 T342A probably benign Het
Hcn4 A C 9: 58,859,550 H798P unknown Het
Herc2 T C 7: 56,226,954 S4513P probably damaging Het
Hmcn1 G A 1: 150,808,737 R361C probably benign Het
Hoxa4 G T 6: 52,191,219 P157Q possibly damaging Het
Ift122 A C 6: 115,925,744 probably benign Het
Igfbpl1 G A 4: 45,826,756 S13L unknown Het
Igsf10 T C 3: 59,328,158 D1534G probably benign Het
Il1rap T G 16: 26,710,593 L339V possibly damaging Het
Irf2bpl C T 12: 86,883,455 R148H possibly damaging Het
Ivns1abp A T 1: 151,361,605 R58W probably damaging Het
Kcnq5 C T 1: 21,535,181 V167M probably damaging Het
Lrrcc1 G A 3: 14,545,596 C337Y probably damaging Het
Lrriq3 A G 3: 155,098,870 I56V probably benign Het
Marc1 T G 1: 184,807,049 T37P probably benign Het
Masp1 C A 16: 23,513,944 S47I probably damaging Het
Mcm7 A T 5: 138,167,446 probably benign Het
Mdm2 G T 10: 117,694,935 S210R probably damaging Het
Mical1 A G 10: 41,483,496 R500G possibly damaging Het
Myc A C 15: 61,987,693 T73P probably damaging Het
Myh15 G A 16: 49,196,891 probably null Het
Myh4 A G 11: 67,258,832 M1768V probably benign Het
Nap1l1 T C 10: 111,486,736 Y66H probably damaging Het
Ncoa1 C T 12: 4,323,005 R132K probably benign Het
Nfatc3 C T 8: 106,059,973 S28F possibly damaging Het
Nhlrc3 T A 3: 53,453,629 K235M probably damaging Het
Nrk G A X: 138,978,714 E757K probably damaging Het
Obsl1 G A 1: 75,506,167 P20S probably damaging Het
P2rx7 C T 5: 122,681,216 A567V probably damaging Het
Pcdhb15 G A 18: 37,475,671 R652H probably benign Het
Pcdhga4 T C 18: 37,686,214 V272A probably benign Het
Pcdhgb1 T G 18: 37,681,419 V321G probably damaging Het
Pde2a C G 7: 101,451,477 probably benign Het
Pdhb C T 14: 8,170,425 E109K probably damaging Het
Pkd1 C A 17: 24,569,511 L748M probably damaging Het
Pkd2 A T 5: 104,459,788 E51V probably damaging Het
Pkdrej A G 15: 85,821,292 Y148H probably damaging Het
Polr3gl C G 3: 96,580,912 probably benign Het
Ppfia1 A T 7: 144,498,336 L882Q probably damaging Het
Ppp4r3b G T 11: 29,209,434 R596L probably benign Het
Ppp6r3 G A 19: 3,471,059 Q85* probably null Het
Prss8 A G 7: 127,922,252 probably benign Het
Rab22a A G 2: 173,695,170 I87V probably benign Het
Rev1 A C 1: 38,056,256 probably benign Het
Rnase13 A G 14: 51,922,530 Y51H probably damaging Het
Rnf26 T C 9: 44,112,645 H102R probably damaging Het
Rnf5 T C 17: 34,603,367 E36G probably damaging Het
Rplp1 T G 9: 61,914,376 D18A probably benign Het
Rrs1 C A 1: 9,545,925 D134E probably damaging Het
Sec14l1 A G 11: 117,143,803 Y166C probably damaging Het
Sec14l2 A T 11: 4,109,209 Y153* probably null Het
Senp1 A G 15: 98,084,989 L39P probably damaging Het
Senp2 T A 16: 22,014,114 probably benign Het
Sh3bp1 G A 15: 78,914,024 A19T probably benign Het
Sis G A 3: 72,922,829 P1130S probably damaging Het
Slc16a12 C T 19: 34,677,359 A95T possibly damaging Het
Slc22a4 A G 11: 54,027,957 V7A probably benign Het
Slc35c2 C T 2: 165,277,532 S296N probably benign Het
Slf1 A G 13: 77,050,050 probably benign Het
Slitrk6 A T 14: 110,750,427 V616E possibly damaging Het
Smarca2 T A 19: 26,649,093 M439K probably benign Het
Snx29 G A 16: 11,403,624 A305T probably benign Het
Socs5 C T 17: 87,133,616 probably benign Het
Spata31d1a G T 13: 59,701,196 H1039Q probably benign Het
Srgap1 G A 10: 121,896,753 probably benign Het
Synj1 A T 16: 90,964,508 I650N probably damaging Het
Tac4 A C 11: 95,267,364 probably benign Het
Tbck A C 3: 132,722,726 T281P probably benign Het
Tbx22 T C X: 107,677,005 L62P probably damaging Het
Terf2 G C 8: 107,096,302 R70G probably damaging Het
Tfdp1 C T 8: 13,372,526 P138S probably benign Het
Tigd2 T C 6: 59,211,248 Y367H probably damaging Het
Tmprss15 A T 16: 79,024,752 probably null Het
Tmprss6 C T 15: 78,440,627 G741D probably damaging Het
Tnrc6b A C 15: 80,929,186 T1715P probably damaging Het
Tpcn1 T C 5: 120,548,323 probably benign Het
Trappc2l T C 8: 122,613,135 S35P probably damaging Het
Trim63 T C 4: 134,321,173 probably benign Het
Trim66 G T 7: 109,475,247 D602E probably damaging Het
Trp53bp1 G A 2: 121,271,275 P2S probably damaging Het
Tspan14 A G 14: 40,915,531 L100P probably damaging Het
Tspan15 C T 10: 62,188,120 E260K probably damaging Het
Ubxn10 T C 4: 138,720,888 D159G probably benign Het
Unc5a T G 13: 55,003,896 V713G probably damaging Het
Usp16 C T 16: 87,473,132 A324V probably damaging Het
Uvssa G A 5: 33,402,570 R422Q possibly damaging Het
Wdr34 T C 2: 30,032,135 Y438C probably damaging Het
Wipf1 A C 2: 73,437,602 F151V probably damaging Het
Xpo1 A T 11: 23,276,437 K104N possibly damaging Het
Ybx3 T C 6: 131,379,459 T150A probably damaging Het
Zap70 T A 1: 36,779,169 S312R possibly damaging Het
Zfp534 T G 4: 147,675,423 K263T probably benign Het
Zfp534 T G 4: 147,675,460 N251H probably benign Het
Other mutations in Bicc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Bicc1 APN 10 70961157 missense probably damaging 1.00
IGL01988:Bicc1 APN 10 70956176 missense probably damaging 1.00
IGL02686:Bicc1 APN 10 70943360 splice site probably benign
IGL02829:Bicc1 APN 10 70958880 missense probably damaging 1.00
IGL03276:Bicc1 APN 10 70953438 missense possibly damaging 0.76
IGL03354:Bicc1 APN 10 70946602 missense probably benign 0.00
artemis UTSW 10 71027954 missense probably damaging 0.99
Pebbles UTSW 10 70947900 missense possibly damaging 0.95
R0095:Bicc1 UTSW 10 70961158 missense probably damaging 1.00
R0142:Bicc1 UTSW 10 70925370 missense probably damaging 1.00
R0184:Bicc1 UTSW 10 71079215 missense probably benign
R0469:Bicc1 UTSW 10 71079215 missense probably benign
R0485:Bicc1 UTSW 10 70925315 missense probably damaging 0.96
R0520:Bicc1 UTSW 10 70957190 missense probably damaging 0.96
R0884:Bicc1 UTSW 10 70958847 missense probably damaging 1.00
R1678:Bicc1 UTSW 10 70943518 missense probably damaging 1.00
R1892:Bicc1 UTSW 10 70958784 missense probably damaging 1.00
R1943:Bicc1 UTSW 10 71159523 missense probably damaging 1.00
R2220:Bicc1 UTSW 10 70950125 missense probably damaging 1.00
R2240:Bicc1 UTSW 10 70946803 critical splice donor site probably null
R2519:Bicc1 UTSW 10 70930644 missense probably damaging 1.00
R4362:Bicc1 UTSW 10 70943374 frame shift probably null
R4363:Bicc1 UTSW 10 70943374 frame shift probably null
R4419:Bicc1 UTSW 10 70946974 missense possibly damaging 0.73
R4697:Bicc1 UTSW 10 70953484 missense possibly damaging 0.87
R4728:Bicc1 UTSW 10 70935831 critical splice donor site probably null
R4765:Bicc1 UTSW 10 70940593 missense probably damaging 1.00
R4838:Bicc1 UTSW 10 70945316 missense possibly damaging 0.50
R5022:Bicc1 UTSW 10 70947883 missense possibly damaging 0.79
R5023:Bicc1 UTSW 10 70947883 missense possibly damaging 0.79
R5057:Bicc1 UTSW 10 70947883 missense possibly damaging 0.79
R5082:Bicc1 UTSW 10 70940522 missense probably benign 0.05
R5160:Bicc1 UTSW 10 70932236 missense probably damaging 1.00
R5294:Bicc1 UTSW 10 70947900 missense possibly damaging 0.95
R5639:Bicc1 UTSW 10 70940520 missense probably damaging 1.00
R5749:Bicc1 UTSW 10 70946969 missense probably benign 0.00
R6045:Bicc1 UTSW 10 70957081 nonsense probably null
R6128:Bicc1 UTSW 10 70940483 splice site probably null
R6277:Bicc1 UTSW 10 71027901 missense possibly damaging 0.74
R6389:Bicc1 UTSW 10 70958922 missense probably damaging 1.00
R7021:Bicc1 UTSW 10 70961148 missense probably damaging 0.99
R7101:Bicc1 UTSW 10 70930653 missense probably damaging 1.00
R7351:Bicc1 UTSW 10 70947900 missense probably benign 0.18
R7352:Bicc1 UTSW 10 70947900 missense probably benign 0.18
R7353:Bicc1 UTSW 10 70947900 missense probably benign 0.18
R7366:Bicc1 UTSW 10 70943386 missense probably benign 0.01
R7480:Bicc1 UTSW 10 70943476 missense probably damaging 1.00
R7541:Bicc1 UTSW 10 70946604 missense possibly damaging 0.82
R7544:Bicc1 UTSW 10 70956374 missense possibly damaging 0.89
R7555:Bicc1 UTSW 10 70956291 missense possibly damaging 0.75
R7663:Bicc1 UTSW 10 70946590 missense probably benign
R7671:Bicc1 UTSW 10 70957167 missense probably benign 0.01
R7747:Bicc1 UTSW 10 70946993 missense probably benign
RF013:Bicc1 UTSW 10 70935830 critical splice donor site probably null
X0028:Bicc1 UTSW 10 70945336 missense probably damaging 1.00
Predicted Primers
Posted On2017-11-21