Incidental Mutation 'R4770:Pinx1'
ID 367440
Institutional Source Beutler Lab
Gene Symbol Pinx1
Ensembl Gene ENSMUSG00000021958
Gene Name PIN2/TERF1 interacting, telomerase inhibitor 1
Synonyms 2610028A01Rik, LPTS, 2210403I16Rik
MMRRC Submission 042410-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4770 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 64097813-64157308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 64109820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 124 (V124G)
Ref Sequence ENSEMBL: ENSMUSP00000022528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022528]
AlphaFold Q9CZX5
Predicted Effect probably damaging
Transcript: ENSMUST00000022528
AA Change: V124G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022528
Gene: ENSMUSG00000021958
AA Change: V124G

DomainStartEndE-ValueType
G_patch 24 70 4.01e-17 SMART
low complexity region 102 121 N/A INTRINSIC
low complexity region 216 223 N/A INTRINSIC
low complexity region 236 246 N/A INTRINSIC
low complexity region 295 305 N/A INTRINSIC
Meta Mutation Damage Score 0.3308 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 93% (89/96)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryonic size, pallor, anemia, and die during organogenesis. Mice heterozygous for a knock-out allele exhibit increased tumor incidence associated with chromosomal instability and elongated telomeres. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,962,341 (GRCm39) V503A possibly damaging Het
Agps T A 2: 75,722,199 (GRCm39) F463Y possibly damaging Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Amigo3 A T 9: 107,930,734 (GRCm39) L52F probably damaging Het
Anapc1 T C 2: 128,527,980 (GRCm39) probably benign Het
Ankrd36 G T 11: 5,540,870 (GRCm39) C312F possibly damaging Het
Asic2 A C 11: 80,862,318 (GRCm39) D226E probably benign Het
Atp8b2 T A 3: 89,864,374 (GRCm39) Q197L probably damaging Het
C2cd3 A G 7: 100,092,642 (GRCm39) Y495C probably damaging Het
Ccdc51 A G 9: 108,919,978 (GRCm39) T125A probably benign Het
Ccser1 A G 6: 61,288,485 (GRCm39) Y216C possibly damaging Het
Cimap1b A G 15: 89,263,326 (GRCm39) I19T probably damaging Het
Cntfr A T 4: 41,663,282 (GRCm39) I175N possibly damaging Het
Cox10 G A 11: 63,854,989 (GRCm39) R431W probably benign Het
Cubn T C 2: 13,319,578 (GRCm39) T2881A possibly damaging Het
Cyp2d9 T A 15: 82,336,774 (GRCm39) V41E probably damaging Het
Dmrtb1 C T 4: 107,540,986 (GRCm39) G125D probably benign Het
Dscaml1 C T 9: 45,581,404 (GRCm39) R408C probably damaging Het
Duox2 A T 2: 122,115,397 (GRCm39) S1052T probably benign Het
Ecm1 A G 3: 95,645,273 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Epb41l1 T A 2: 156,371,344 (GRCm39) M727K probably benign Het
Exosc9 T C 3: 36,607,984 (GRCm39) V64A probably damaging Het
Ezh2 A T 6: 47,517,630 (GRCm39) I564N probably damaging Het
Fam89b C A 19: 5,779,482 (GRCm39) R25L probably damaging Het
Fgr C T 4: 132,714,602 (GRCm39) T98M probably damaging Het
Fhip2b T A 14: 70,825,727 (GRCm39) D351V probably damaging Het
Gapvd1 A G 2: 34,581,193 (GRCm39) S1089P probably damaging Het
Gbp5 A T 3: 142,213,837 (GRCm39) I544F possibly damaging Het
Gli2 C A 1: 118,910,318 (GRCm39) probably benign Het
Gm9934 A G 7: 92,702,192 (GRCm39) noncoding transcript Het
Greb1 A T 12: 16,731,357 (GRCm39) D1660E probably benign Het
Gtf2i T A 5: 134,272,414 (GRCm39) N750I possibly damaging Het
H2-DMb2 G C 17: 34,367,698 (GRCm39) D171H probably damaging Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Itga2b A G 11: 102,351,582 (GRCm39) F581S probably damaging Het
Itsn2 T A 12: 4,677,892 (GRCm39) M83K probably damaging Het
Kif27 G A 13: 58,492,191 (GRCm39) T316M probably damaging Het
Lad1 A T 1: 135,753,531 (GRCm39) Q26L probably damaging Het
Lrrn3 T A 12: 41,502,442 (GRCm39) H625L probably benign Het
Mast1 A G 8: 85,655,875 (GRCm39) V155A probably benign Het
Mast3 G A 8: 71,238,864 (GRCm39) T480M probably damaging Het
Mpc1 C T 17: 8,512,377 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,457,380 (GRCm39) M1606L probably benign Het
Myo1c T A 11: 75,551,139 (GRCm39) L238* probably null Het
Nanog T G 6: 122,688,550 (GRCm39) S44A possibly damaging Het
Neb T C 2: 52,039,165 (GRCm39) Q6958R probably benign Het
Ngef C T 1: 87,405,283 (GRCm39) R709H probably damaging Het
Nr1d1 A G 11: 98,661,471 (GRCm39) V265A probably benign Het
Nr3c2 A G 8: 77,634,872 (GRCm39) probably null Het
Olfm5 A G 7: 103,809,685 (GRCm39) S164P probably benign Het
Parvb T C 15: 84,188,106 (GRCm39) probably null Het
Pde4dip G T 3: 97,674,400 (GRCm39) A172D probably damaging Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pik3r6 T A 11: 68,420,720 (GRCm39) V155E probably damaging Het
Poglut1 A G 16: 38,355,119 (GRCm39) Y236H probably damaging Het
Pou4f2 T A 8: 79,163,030 (GRCm39) M2L unknown Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Pramel26 C T 4: 143,538,519 (GRCm39) E151K probably damaging Het
Prkaca A G 8: 84,717,499 (GRCm39) N209S probably benign Het
Ring1 G A 17: 34,242,361 (GRCm39) P49S probably damaging Het
Rnf20 T A 4: 49,633,412 (GRCm39) probably null Het
Rnf25 G A 1: 74,633,099 (GRCm39) R418C probably damaging Het
Ryr1 G T 7: 28,808,707 (GRCm39) P462Q probably damaging Het
Serpinb3d A G 1: 107,006,008 (GRCm39) F360S probably damaging Het
Setd7 T C 3: 51,428,843 (GRCm39) E329G probably damaging Het
Slco2b1 C T 7: 99,320,156 (GRCm39) probably null Het
Snap91 G A 9: 86,655,654 (GRCm39) T844I possibly damaging Het
Snhg5 C T 9: 88,404,424 (GRCm39) noncoding transcript Het
Son T A 16: 91,455,756 (GRCm39) V1501E probably damaging Het
Syncrip T A 9: 88,361,905 (GRCm39) E70V probably damaging Het
Tas2r125 A G 6: 132,886,750 (GRCm39) D46G probably damaging Het
Tmem115 G A 9: 107,412,156 (GRCm39) R160Q probably benign Het
Trerf1 G A 17: 47,630,581 (GRCm39) noncoding transcript Het
Tut7 A G 13: 59,920,698 (GRCm39) probably benign Het
Uggt2 A T 14: 119,266,466 (GRCm39) probably null Het
Ush2a G T 1: 188,282,076 (GRCm39) V1864F probably benign Het
Xkr4 A T 1: 3,286,714 (GRCm39) V492D probably damaging Het
Zfp646 T A 7: 127,482,649 (GRCm39) S1609T possibly damaging Het
Zfp65 A T 13: 67,856,477 (GRCm39) H277Q probably damaging Het
Zfp69 A G 4: 120,791,614 (GRCm39) S176P probably damaging Het
Zfp747 C T 7: 126,974,971 (GRCm39) A10T probably damaging Het
Zfp850 T C 7: 27,684,411 (GRCm39) probably null Het
Other mutations in Pinx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Pinx1 APN 14 64,103,564 (GRCm39) missense probably benign 0.45
IGL02618:Pinx1 APN 14 64,105,969 (GRCm39) missense probably damaging 0.98
IGL02850:Pinx1 APN 14 64,156,609 (GRCm39) missense probably damaging 0.96
IGL03342:Pinx1 APN 14 64,157,018 (GRCm39) missense probably benign 0.03
R1300:Pinx1 UTSW 14 64,156,859 (GRCm39) missense probably benign 0.19
R1636:Pinx1 UTSW 14 64,103,586 (GRCm39) missense probably damaging 1.00
R1728:Pinx1 UTSW 14 64,115,559 (GRCm39) critical splice acceptor site probably null
R1758:Pinx1 UTSW 14 64,157,024 (GRCm39) missense probably benign 0.12
R1784:Pinx1 UTSW 14 64,115,559 (GRCm39) critical splice acceptor site probably null
R6283:Pinx1 UTSW 14 64,115,621 (GRCm39) missense probably benign 0.00
R7140:Pinx1 UTSW 14 64,097,834 (GRCm39) splice site probably null
R7539:Pinx1 UTSW 14 64,156,655 (GRCm39) missense probably benign 0.00
R7690:Pinx1 UTSW 14 64,101,660 (GRCm39) splice site probably null
R7800:Pinx1 UTSW 14 64,156,984 (GRCm39) missense probably benign 0.02
R7808:Pinx1 UTSW 14 64,156,741 (GRCm39) nonsense probably null
R8404:Pinx1 UTSW 14 64,157,063 (GRCm39) missense unknown
R8552:Pinx1 UTSW 14 64,156,972 (GRCm39) missense probably benign 0.15
R9330:Pinx1 UTSW 14 64,109,777 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GAGAGAACCTTGCCTGACTTTAC -3'
(R):5'- TGCTGCAGATCAATCCACCAG -3'

Sequencing Primer
(F):5'- CAATTCTTTGGTAACAGTTCAG -3'
(R):5'- GATCAATCCACCAGGCTGC -3'
Posted On 2015-12-29