Incidental Mutation 'IGL02445:Papolb'
ID293536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papolb
Ensembl Gene ENSMUSG00000074817
Gene Namepoly (A) polymerase beta (testis specific)
SynonymsPapt, TPAP, Plap-ps, Papola-ps
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02445
Quality Score
Status
Chromosome5
Chromosomal Location142525838-142530076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 142528725 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 388 (H388Y)
Ref Sequence ENSEMBL: ENSMUSP00000100595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063635] [ENSMUST00000085758] [ENSMUST00000099400] [ENSMUST00000110785]
Predicted Effect probably benign
Transcript: ENSMUST00000063635
SMART Domains Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576

DomainStartEndE-ValueType
RA 61 164 1.68e-15 SMART
Blast:FHA 265 332 2e-25 BLAST
low complexity region 344 354 N/A INTRINSIC
low complexity region 550 560 N/A INTRINSIC
DIL 634 743 6.19e-34 SMART
low complexity region 950 964 N/A INTRINSIC
PDZ 979 1056 3.86e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085758
SMART Domains Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576

DomainStartEndE-ValueType
RA 90 193 1.68e-15 SMART
Blast:FHA 294 361 2e-25 BLAST
low complexity region 373 383 N/A INTRINSIC
low complexity region 579 589 N/A INTRINSIC
DIL 663 772 6.19e-34 SMART
low complexity region 979 993 N/A INTRINSIC
PDZ 1008 1085 3.86e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099400
AA Change: H388Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100595
Gene: ENSMUSG00000074817
AA Change: H388Y

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:PAP_central 22 365 1.2e-118 PFAM
Pfam:NTP_transf_2 77 176 7.9e-16 PFAM
Pfam:PAP_RNA-bind 367 436 2.3e-22 PFAM
low complexity region 593 610 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110785
SMART Domains Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576

DomainStartEndE-ValueType
RA 61 164 1.68e-15 SMART
Blast:FHA 265 332 2e-25 BLAST
low complexity region 344 354 N/A INTRINSIC
low complexity region 550 560 N/A INTRINSIC
DIL 634 743 6.19e-34 SMART
low complexity region 973 987 N/A INTRINSIC
PDZ 1002 1079 3.86e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139824
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility associated with reduced testes weight, smaller seminiferous tubules, and arrested spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T A 8: 84,159,508 M31K probably benign Het
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Ddx19b C A 8: 111,008,824 V402L probably damaging Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Nap1l3 A T X: 122,396,055 V322D probably damaging Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr126 A T 17: 37,851,117 H175L probably damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Prss12 T A 3: 123,487,020 D451E probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Rhd A T 4: 134,884,170 M214L possibly damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging Het
Other mutations in Papolb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0393:Papolb UTSW 5 142529456 missense probably damaging 0.98
R4551:Papolb UTSW 5 142529178 missense probably benign 0.30
R4552:Papolb UTSW 5 142529178 missense probably benign 0.30
R4553:Papolb UTSW 5 142529178 missense probably benign 0.30
R5121:Papolb UTSW 5 142528837 missense probably benign 0.00
R5261:Papolb UTSW 5 142529654 missense possibly damaging 0.85
R5348:Papolb UTSW 5 142529217 missense possibly damaging 0.66
R5861:Papolb UTSW 5 142529237 missense possibly damaging 0.59
R6454:Papolb UTSW 5 142529598 missense possibly damaging 0.77
R6860:Papolb UTSW 5 142528896 missense possibly damaging 0.52
R6902:Papolb UTSW 5 142528151 missense probably benign
R8145:Papolb UTSW 5 142528598 missense probably benign
Posted On2015-04-16