Incidental Mutation 'R6119:Pwwp3a'
ID 485666
Institutional Source Beutler Lab
Gene Symbol Pwwp3a
Ensembl Gene ENSMUSG00000020156
Gene Name PWWP domain containing 3A, DNA repair factor
Synonyms 9430059D04Rik, Mum1
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80062268-80079737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80064865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 32 (K32E)
Ref Sequence ENSEMBL: ENSMUSP00000117519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020365] [ENSMUST00000130260]
AlphaFold Q6DID5
Predicted Effect probably benign
Transcript: ENSMUST00000020365
AA Change: K32E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020365
Gene: ENSMUSG00000020156
AA Change: K32E

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Pfam:PWWP 381 458 2.9e-8 PFAM
low complexity region 671 682 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125784
Predicted Effect probably benign
Transcript: ENSMUST00000130260
AA Change: K32E

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117519
Gene: ENSMUSG00000020156
AA Change: K32E

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141962
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging Het
Other mutations in Pwwp3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Pwwp3a APN 10 80,070,163 (GRCm39) critical splice donor site probably null
IGL02152:Pwwp3a APN 10 80,075,812 (GRCm39) missense probably damaging 1.00
IGL02541:Pwwp3a APN 10 80,064,273 (GRCm39) critical splice donor site probably null
IGL02562:Pwwp3a APN 10 80,074,729 (GRCm39) missense probably damaging 1.00
IGL02609:Pwwp3a APN 10 80,065,917 (GRCm39) missense probably damaging 0.99
R0242:Pwwp3a UTSW 10 80,070,092 (GRCm39) missense probably benign 0.02
R0242:Pwwp3a UTSW 10 80,070,092 (GRCm39) missense probably benign 0.02
R0378:Pwwp3a UTSW 10 80,074,713 (GRCm39) splice site probably null
R0441:Pwwp3a UTSW 10 80,064,859 (GRCm39) missense probably damaging 1.00
R0675:Pwwp3a UTSW 10 80,065,914 (GRCm39) missense probably damaging 0.99
R1558:Pwwp3a UTSW 10 80,068,778 (GRCm39) missense probably benign 0.05
R1612:Pwwp3a UTSW 10 80,068,889 (GRCm39) unclassified probably benign
R1873:Pwwp3a UTSW 10 80,068,442 (GRCm39) missense possibly damaging 0.93
R2247:Pwwp3a UTSW 10 80,076,259 (GRCm39) missense probably damaging 1.00
R3905:Pwwp3a UTSW 10 80,074,150 (GRCm39) missense probably damaging 1.00
R3907:Pwwp3a UTSW 10 80,074,150 (GRCm39) missense probably damaging 1.00
R3908:Pwwp3a UTSW 10 80,074,150 (GRCm39) missense probably damaging 1.00
R4468:Pwwp3a UTSW 10 80,076,570 (GRCm39) intron probably benign
R4657:Pwwp3a UTSW 10 80,068,848 (GRCm39) missense probably benign 0.00
R4989:Pwwp3a UTSW 10 80,068,702 (GRCm39) missense probably benign 0.01
R5030:Pwwp3a UTSW 10 80,076,209 (GRCm39) intron probably benign
R5133:Pwwp3a UTSW 10 80,068,702 (GRCm39) missense probably benign 0.01
R5134:Pwwp3a UTSW 10 80,068,702 (GRCm39) missense probably benign 0.01
R5239:Pwwp3a UTSW 10 80,064,255 (GRCm39) nonsense probably null
R6253:Pwwp3a UTSW 10 80,068,848 (GRCm39) missense probably benign 0.00
R6526:Pwwp3a UTSW 10 80,068,113 (GRCm39) missense probably benign 0.18
R7421:Pwwp3a UTSW 10 80,068,587 (GRCm39) missense probably benign 0.38
R8116:Pwwp3a UTSW 10 80,076,231 (GRCm39) missense probably damaging 1.00
R8252:Pwwp3a UTSW 10 80,077,694 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCAGAGGAAGTGCTGAGCTC -3'
(R):5'- AAGATTCTCAGCGTGGAGAC -3'

Sequencing Primer
(F):5'- AAGTGCTGAGCTCCTGCC -3'
(R):5'- GACACAGAAGCAGAGAACTCCTAAG -3'
Posted On 2017-08-16