Incidental Mutation 'R7325:Boll'
ID568795
Institutional Source Beutler Lab
Gene Symbol Boll
Ensembl Gene ENSMUSG00000025977
Gene Nameboule homolog, RNA binding protein
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.299) question?
Stock #R7325 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location55248658-55363469 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55304598 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 222 (Y222C)
Ref Sequence ENSEMBL: ENSMUSP00000084868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087585] [ENSMUST00000114423] [ENSMUST00000159564] [ENSMUST00000173983]
Predicted Effect probably damaging
Transcript: ENSMUST00000087585
AA Change: Y222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084868
Gene: ENSMUSG00000025977
AA Change: Y222C

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
RRM 46 118 1.09e-24 SMART
low complexity region 166 180 N/A INTRINSIC
low complexity region 184 200 N/A INTRINSIC
low complexity region 271 287 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114423
AA Change: Y89C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110066
Gene: ENSMUSG00000025977
AA Change: Y89C

DomainStartEndE-ValueType
low complexity region 33 47 N/A INTRINSIC
low complexity region 51 67 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159564
SMART Domains Protein: ENSMUSP00000124962
Gene: ENSMUSG00000025977

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:RRM_1 47 87 2.7e-12 PFAM
Pfam:RRM_6 47 87 4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161810
Predicted Effect probably damaging
Transcript: ENSMUST00000173983
AA Change: Y209C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134054
Gene: ENSMUSG00000025977
AA Change: Y209C

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
RRM 33 105 1.09e-24 SMART
low complexity region 153 167 N/A INTRINSIC
low complexity region 171 187 N/A INTRINSIC
low complexity region 258 274 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility due to arrested spermatogenesis at step 6 in spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,532,630 Q402L probably benign Het
Afap1l1 T C 18: 61,736,846 T638A probably benign Het
Agtr1a A C 13: 30,381,907 K318N possibly damaging Het
Anks1b A G 10: 90,941,432 T1095A probably damaging Het
Ap3d1 A T 10: 80,723,803 I207N probably damaging Het
Arhgef11 T C 3: 87,713,292 L484P possibly damaging Het
Astn2 C T 4: 65,542,669 S1076N probably benign Het
Baat C A 4: 49,490,213 L290F probably benign Het
Bphl A T 13: 34,050,341 I147F possibly damaging Het
C330027C09Rik T A 16: 49,005,821 M417K probably benign Het
Cadps2 T G 6: 23,409,935 D766A unknown Het
Cd300lb T A 11: 114,925,032 K210M probably damaging Het
Cdan1 T C 2: 120,724,704 Q797R probably benign Het
Celsr1 T A 15: 86,033,008 S255C probably damaging Het
Csmd1 G A 8: 16,058,707 S1894L probably damaging Het
Dennd5b T A 6: 149,020,570 K815N probably benign Het
Exd1 A G 2: 119,520,139 V547A probably benign Het
Fbxo15 C T 18: 84,959,118 R52C probably damaging Het
Fip1l1 A G 5: 74,536,799 probably null Het
Flg2 T A 3: 93,203,372 N902K unknown Het
Fyttd1 T A 16: 32,884,248 N76K probably benign Het
Gins1 T A 2: 150,916,166 D57E probably benign Het
Gm5565 G C 5: 146,158,361 probably null Het
Gm6614 T C 6: 141,989,225 K379E probably damaging Het
Gpsm2 T C 3: 108,702,928 Y72C probably damaging Het
Hace1 C A 10: 45,589,507 S53* probably null Het
Insig2 A G 1: 121,306,937 V188A possibly damaging Het
Ism1 T C 2: 139,757,043 V312A probably damaging Het
Jmy A T 13: 93,472,743 Y353N probably damaging Het
Maats1 T A 16: 38,321,601 probably null Het
Maz A C 7: 127,025,553 V265G probably benign Het
Mtmr14 T A 6: 113,269,548 I426N probably damaging Het
Olfr1054 A G 2: 86,333,000 S119P possibly damaging Het
Olfr1467 A G 19: 13,364,637 E3G probably benign Het
Olfr394 C T 11: 73,888,275 M32I probably benign Het
Pcdhac2 T A 18: 37,145,360 N464K probably damaging Het
Pcdhb7 T A 18: 37,343,387 H525Q probably benign Het
Pcp4l1 G A 1: 171,174,465 A42V possibly damaging Het
Podn C T 4: 108,017,702 probably null Het
Prim1 A G 10: 128,022,919 D232G probably null Het
Prrt1 T A 17: 34,632,187 M283K possibly damaging Het
Rgs9 A T 11: 109,276,581 I65N probably damaging Het
Scgb2b26 C A 7: 33,944,357 V53L probably benign Het
Shank2 C A 7: 144,411,685 P1010Q probably benign Het
Slc12a4 C T 8: 105,955,715 G121S probably damaging Het
Slc17a6 G T 7: 51,645,018 A158S probably damaging Het
Slc9a9 C T 9: 94,712,898 H154Y probably benign Het
Slco2a1 T A 9: 103,085,749 probably null Het
Snapc3 T C 4: 83,435,270 I182T probably benign Het
Taok2 A G 7: 126,871,088 V856A probably benign Het
Tep1 T A 14: 50,866,038 N265I probably damaging Het
Tespa1 A T 10: 130,362,041 N311Y probably damaging Het
Tpmt G A 13: 47,041,484 Q14* probably null Het
Trim33 T C 3: 103,321,636 F353L possibly damaging Het
Upp1 T C 11: 9,134,743 V154A probably damaging Het
Usp34 T C 11: 23,419,052 I1747T Het
Vmn1r47 T C 6: 90,022,272 S129P probably benign Het
Vmn2r93 A G 17: 18,303,987 Y81C probably benign Het
Ybx2 A T 11: 69,940,355 T259S probably benign Het
Zfp536 T C 7: 37,479,860 T1107A probably benign Het
Zfp583 C T 7: 6,316,586 A476T probably damaging Het
Other mutations in Boll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Boll APN 1 55305668 splice site probably benign
IGL01575:Boll APN 1 55323648 critical splice donor site probably null
R2849:Boll UTSW 1 55346373 missense possibly damaging 0.53
R5030:Boll UTSW 1 55355735 missense probably damaging 1.00
R6150:Boll UTSW 1 55270653 missense possibly damaging 0.86
R7455:Boll UTSW 1 55300103 missense probably benign 0.18
R8046:Boll UTSW 1 55346403 missense probably damaging 0.98
R8073:Boll UTSW 1 55355722 start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTACTGAAAAGCTCTAGGATGAAGCTC -3'
(R):5'- GACATGTATGACAGCTCAAATTTTC -3'

Sequencing Primer
(F):5'- GCTCTAGGATGAAGCTCTTAGAC -3'
(R):5'- TGTATGACAGCTCAAATTTTCTAGTC -3'
Posted On2019-09-13