Incidental Mutation 'IGL02957:Pot1b'
ID365159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pot1b
Ensembl Gene ENSMUSG00000024174
Gene Nameprotection of telomeres 1B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02957
Quality Score
Status
Chromosome17
Chromosomal Location55652025-55712628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55700009 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 36 (Y36C)
Ref Sequence ENSEMBL: ENSMUSP00000084089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086876]
Predicted Effect probably damaging
Transcript: ENSMUST00000086876
AA Change: Y36C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: Y36C

DomainStartEndE-ValueType
Telo_bind 11 141 1.74e-51 SMART
Pfam:POT1PC 152 299 7.9e-40 PFAM
low complexity region 313 333 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one null mutation display male infertility with age, male germ cell apoptosis, hyperpigmentation, increased apoptosis in intestinal crypts, and decreased body size. Mice homozygous for a transgenic gene disruption exhibit neonatal lethality with possible stem cell defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik G T 9: 36,637,850 T38K probably benign Het
Abi2 A G 1: 60,470,786 D262G probably damaging Het
Ahcyl1 G T 3: 107,667,642 Q462K probably damaging Het
Btbd11 C T 10: 85,631,286 probably benign Het
Btbd11 T A 10: 85,633,837 M405K probably damaging Het
C8b A G 4: 104,766,455 T20A probably benign Het
Casd1 T A 6: 4,634,068 Y594N possibly damaging Het
Crtc2 C T 3: 90,262,533 P412L probably damaging Het
Cyp3a44 T A 5: 145,779,662 R373* probably null Het
Dnah10 A G 5: 124,763,133 D1277G probably benign Het
Dnah2 A T 11: 69,448,507 V3058E possibly damaging Het
Eif3l T C 15: 79,089,828 L481P probably benign Het
Fbxw7 A T 3: 84,976,237 T573S probably benign Het
Fcgbp C A 7: 28,091,847 Y844* probably null Het
Fcrls C A 3: 87,262,194 V13F possibly damaging Het
Gbx2 T G 1: 89,930,653 S35R probably benign Het
Gm10767 A T 13: 66,908,213 probably benign Het
H2-M9 A G 17: 36,642,157 L86S probably benign Het
Hebp1 C T 6: 135,137,992 G157D probably benign Het
Igf2bp3 C A 6: 49,087,404 V560L probably benign Het
Igsf10 A G 3: 59,330,864 I632T probably damaging Het
Kcnab2 A T 4: 152,435,869 S5T possibly damaging Het
Kcnh5 T C 12: 75,007,665 S502G probably benign Het
Lpcat2 T A 8: 92,875,584 Y224* probably null Het
Mcrip2 A G 17: 25,868,525 V24A probably damaging Het
Mttp T C 3: 138,109,081 K493E possibly damaging Het
Myl7 A G 11: 5,897,137 S139P possibly damaging Het
Npepps C T 11: 97,242,652 R268H probably damaging Het
Oas1c C T 5: 120,805,413 W18* probably null Het
Olfr1328 G T 4: 118,934,119 T241N probably damaging Het
P4ha3 T C 7: 100,318,905 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkhd1l1 T A 15: 44,512,908 W989R probably damaging Het
Podxl A G 6: 31,528,449 probably benign Het
Ppme1 A T 7: 100,338,440 I103K possibly damaging Het
Ppp1r12a T C 10: 108,198,918 I108T probably damaging Het
Pramel1 A G 4: 143,397,598 H281R probably benign Het
Prep T C 10: 45,126,030 V427A probably benign Het
Prkce A G 17: 86,496,026 D451G possibly damaging Het
Prrc2c A G 1: 162,706,535 probably benign Het
Rrm2 A G 12: 24,708,441 N32S probably damaging Het
Sema6a A G 18: 47,249,224 L752P probably damaging Het
Sik3 T A 9: 46,195,845 I429N possibly damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Stk32a A T 18: 43,311,992 M284L probably benign Het
Syde2 T C 3: 145,989,179 probably benign Het
Tcta G A 9: 108,305,332 S91F possibly damaging Het
Traf3ip2 A T 10: 39,654,410 T517S probably damaging Het
Trpv3 A G 11: 73,285,872 Y359C probably damaging Het
Vmn1r66 A G 7: 10,274,810 S99P probably damaging Het
Vmn2r8 G A 5: 108,802,225 T252M probably benign Het
Wdr27 A T 17: 14,910,110 probably benign Het
Yipf1 A G 4: 107,336,150 T78A probably damaging Het
Zfp735 A T 11: 73,710,929 Y233F probably benign Het
Other mutations in Pot1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Pot1b APN 17 55695160 missense possibly damaging 0.94
IGL01796:Pot1b APN 17 55669750 missense possibly damaging 0.53
IGL01810:Pot1b APN 17 55662521 missense possibly damaging 0.68
IGL02371:Pot1b APN 17 55695092 missense possibly damaging 0.91
IGL02553:Pot1b APN 17 55695024 splice site probably benign
IGL02975:Pot1b APN 17 55662454 splice site probably benign
IGL03172:Pot1b APN 17 55695206 missense possibly damaging 0.60
boulder UTSW 17 55672865 nonsense probably null
erosion UTSW 17 55687834 missense probably damaging 0.99
R0020:Pot1b UTSW 17 55653429 missense probably benign 0.03
R0540:Pot1b UTSW 17 55665765 missense probably damaging 0.98
R0607:Pot1b UTSW 17 55665765 missense probably damaging 0.98
R0882:Pot1b UTSW 17 55666400 splice site probably benign
R1164:Pot1b UTSW 17 55674085 missense probably benign 0.18
R1476:Pot1b UTSW 17 55653451 missense possibly damaging 0.73
R1874:Pot1b UTSW 17 55654805 missense probably benign
R1955:Pot1b UTSW 17 55674067 missense possibly damaging 0.73
R1960:Pot1b UTSW 17 55662531 missense probably damaging 0.99
R1961:Pot1b UTSW 17 55662531 missense probably damaging 0.99
R2109:Pot1b UTSW 17 55653413 missense probably benign 0.00
R2895:Pot1b UTSW 17 55687939 missense probably damaging 0.98
R2943:Pot1b UTSW 17 55674058 missense probably benign
R4681:Pot1b UTSW 17 55654831 missense probably benign 0.28
R4763:Pot1b UTSW 17 55695160 missense possibly damaging 0.94
R4821:Pot1b UTSW 17 55672885 missense possibly damaging 0.73
R5079:Pot1b UTSW 17 55669801 missense probably benign 0.18
R5146:Pot1b UTSW 17 55672865 nonsense probably null
R5176:Pot1b UTSW 17 55699995 missense probably benign 0.05
R5394:Pot1b UTSW 17 55700063 missense probably benign 0.19
R5752:Pot1b UTSW 17 55687834 missense probably damaging 0.99
R6866:Pot1b UTSW 17 55653474 missense possibly damaging 0.83
X0062:Pot1b UTSW 17 55695154 missense probably damaging 0.98
Posted On2015-12-18