Incidental Mutation 'R7663:Bicc1'
ID 591717
Institutional Source Beutler Lab
Gene Symbol Bicc1
Ensembl Gene ENSMUSG00000014329
Gene Name BicC family RNA binding protein 1
Synonyms Bic-C, jcpk
MMRRC Submission 045738-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7663 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 70758662-70995530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70782420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 607 (T607A)
Ref Sequence ENSEMBL: ENSMUSP00000123201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
AlphaFold Q99MQ1
Predicted Effect probably benign
Transcript: ENSMUST00000014473
AA Change: T607A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329
AA Change: T607A

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: T525A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329
AA Change: T525A

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: T607A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329
AA Change: T607A

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 0.0700 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,887 (GRCm39) T359A probably damaging Het
Abcd4 A C 12: 84,652,903 (GRCm39) V433G probably damaging Het
Acot5 C A 12: 84,116,355 (GRCm39) R39S probably damaging Het
Actl9 T C 17: 33,652,443 (GRCm39) S168P probably damaging Het
Adam15 A G 3: 89,253,113 (GRCm39) L237P probably damaging Het
Ahctf1 T C 1: 179,617,879 (GRCm39) Q289R possibly damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asah1 C T 8: 41,794,664 (GRCm39) R385Q probably damaging Het
Ccdc88a T C 11: 29,448,614 (GRCm39) probably null Het
Cdhr4 A T 9: 107,875,971 (GRCm39) R750* probably null Het
Cep290 T A 10: 100,390,398 (GRCm39) probably null Het
Clca3a1 T A 3: 144,442,797 (GRCm39) D749V probably benign Het
Clcn1 C T 6: 42,286,997 (GRCm39) P685S possibly damaging Het
Clk1 A G 1: 58,460,319 (GRCm39) S104P probably damaging Het
Commd10 T C 18: 47,219,323 (GRCm39) V172A probably benign Het
Cyp2c69 A T 19: 39,865,953 (GRCm39) C213* probably null Het
Dnah14 A T 1: 181,579,720 (GRCm39) probably null Het
Dock2 C T 11: 34,611,854 (GRCm39) G170R probably damaging Het
Fam186a T G 15: 99,842,950 (GRCm39) H1098P probably benign Het
Flt1 T C 5: 147,591,930 (GRCm39) T511A probably benign Het
Fmo1 A C 1: 162,663,866 (GRCm39) I221S possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Ginm1 A T 10: 7,651,126 (GRCm39) S93R possibly damaging Het
Gm3629 A C 14: 17,875,685 (GRCm39) probably null Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gys2 C T 6: 142,405,211 (GRCm39) R192H probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hectd4 C A 5: 121,462,094 (GRCm39) A987E probably benign Het
Herc2 G A 7: 55,786,433 (GRCm39) V1593I probably benign Het
Ighv14-3 T C 12: 114,023,554 (GRCm39) T88A probably benign Het
Jag2 T C 12: 112,877,286 (GRCm39) D695G probably damaging Het
Kazn A T 4: 141,832,209 (GRCm39) D663E Het
Krt79 T C 15: 101,840,278 (GRCm39) D306G probably damaging Het
Lama1 T A 17: 68,087,875 (GRCm39) C1498S Het
Ldb1 T C 19: 46,023,963 (GRCm39) Y141C probably damaging Het
Lmnb2 T A 10: 80,740,573 (GRCm39) E336V probably damaging Het
Lrp1b T A 2: 42,543,047 (GRCm39) probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 T A 14: 103,429,045 (GRCm39) Y2377F probably damaging Het
Neb T A 2: 52,120,059 (GRCm39) Y721F Het
Ntf3 A G 6: 126,078,778 (GRCm39) S243P probably damaging Het
Or4c103 G C 2: 88,513,696 (GRCm39) P127A probably damaging Het
Or52s1 T C 7: 102,861,652 (GRCm39) M195T possibly damaging Het
Or5b121 G T 19: 13,507,809 (GRCm39) M301I probably damaging Het
Pdk1 G A 2: 71,705,742 (GRCm39) probably null Het
Pdzd2 A G 15: 12,373,289 (GRCm39) V2282A probably damaging Het
Piwil1 T C 5: 128,824,497 (GRCm39) F517L probably benign Het
Plch2 T A 4: 155,075,619 (GRCm39) T738S probably damaging Het
Plekhm3 G A 1: 64,922,367 (GRCm39) R603W probably damaging Het
Pltp A T 2: 164,698,926 (GRCm39) probably null Het
Prdm4 A G 10: 85,735,145 (GRCm39) S666P probably damaging Het
Psmb3 G T 11: 97,603,318 (GRCm39) R177L probably damaging Het
Ralgapa2 A G 2: 146,260,335 (GRCm39) V764A probably benign Het
Rel T C 11: 23,692,713 (GRCm39) D440G probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Rims2 T A 15: 39,370,422 (GRCm39) V952E probably damaging Het
Samd4b G T 7: 28,122,925 (GRCm39) C44* probably null Het
Slamf8 C A 1: 172,415,605 (GRCm39) V78F possibly damaging Het
Slc35a1 A T 4: 34,675,493 (GRCm39) N111K possibly damaging Het
Slc7a5 A T 8: 122,614,274 (GRCm39) Y264* probably null Het
Srsf2 T C 11: 116,743,120 (GRCm39) S134G unknown Het
Stag1 T A 9: 100,620,191 (GRCm39) M98K probably damaging Het
Trib1 T C 15: 59,523,562 (GRCm39) S199P probably damaging Het
Txnip T C 3: 96,467,153 (GRCm39) S276P possibly damaging Het
Vmn1r194 C T 13: 22,428,911 (GRCm39) T176I not run Het
Vmn1r222 A G 13: 23,416,601 (GRCm39) L204P possibly damaging Het
Vmn2r63 T A 7: 42,576,466 (GRCm39) H449L probably benign Het
Vmn2r83 T A 10: 79,314,956 (GRCm39) N401K probably damaging Het
Vmn2r87 T A 10: 130,308,054 (GRCm39) H728L probably damaging Het
Zfp69 G A 4: 120,792,323 (GRCm39) A151V probably benign Het
Zfp738 A G 13: 67,831,520 (GRCm39) probably null Het
Zfp974 T C 7: 27,611,110 (GRCm39) E205G possibly 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
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'- TAAAAGCCAGTCTGCAGTCTCC -3'
(R):5'- CCCTCTTGTGAGATTCAGGG -3'

Sequencing Primer
(F):5'- AGTCTGCAGTCTCCGGGAG -3'
(R):5'- TGAGATTCAGGGGGTGGAG -3'
Posted On 2019-11-12