Incidental Mutation 'IGL02281:Tfcp2l1'
ID 289854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfcp2l1
Ensembl Gene ENSMUSG00000026380
Gene Name transcription factor CP2-like 1
Synonyms D930018N21Rik, 4932442M07Rik, LBP-9, Cp2l1, Crtr-1, 1810030F05Rik, Tcfcp2l1
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # IGL02281
Quality Score
Status
Chromosome 1
Chromosomal Location 118555675-118612898 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 118597110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027629]
AlphaFold Q3UNW5
Predicted Effect probably benign
Transcript: ENSMUST00000027629
SMART Domains Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380

DomainStartEndE-ValueType
Pfam:CP2 27 240 2e-58 PFAM
low complexity region 377 390 N/A INTRINSIC
low complexity region 406 416 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for either a knock-out or a gene-trapped allele display a phenotype characterized by postnatal growth retardation, renal hypoplasia, impaired maturation of the ducts in the salivary gland and kidney, abnormal composition of saliva and urine, and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,293,786 (GRCm39) E60G probably benign Het
Aldh3a1 T G 11: 61,107,949 (GRCm39) probably null Het
Bach2 T C 4: 32,562,513 (GRCm39) C327R possibly damaging Het
Bcam C T 7: 19,492,616 (GRCm39) G523D probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Calm1 A T 12: 100,171,883 (GRCm39) I112F probably damaging Het
Ceacam3 T C 7: 16,895,656 (GRCm39) V542A probably benign Het
Clec5a A T 6: 40,561,336 (GRCm39) D36E probably benign Het
Clspn T A 4: 126,459,563 (GRCm39) C321S possibly damaging Het
Cmtr1 T A 17: 29,910,255 (GRCm39) D453E probably benign Het
Cntnap1 T A 11: 101,073,080 (GRCm39) D561E possibly damaging Het
Cul5 A G 9: 53,546,349 (GRCm39) V137A possibly damaging Het
Cyp2b9 A G 7: 25,900,529 (GRCm39) Y389C probably damaging Het
Ddi2 A G 4: 141,419,730 (GRCm39) V340A probably benign Het
Etv4 T C 11: 101,664,545 (GRCm39) Y235C probably damaging Het
Gm3099 G A 14: 15,347,225 (GRCm39) probably benign Het
Gpsm1 T A 2: 26,229,638 (GRCm39) probably benign Het
Idh2 A G 7: 79,745,550 (GRCm39) probably null Het
Kit G A 5: 75,815,194 (GRCm39) E973K possibly damaging Het
Lilra5 A G 7: 4,241,782 (GRCm39) I194V probably benign Het
Lrp6 A C 6: 134,434,697 (GRCm39) N1335K probably benign Het
Map9 G A 3: 82,298,453 (GRCm39) E613K possibly damaging Het
Mroh2b G A 15: 4,981,745 (GRCm39) A1519T probably benign Het
Nefm A G 14: 68,361,913 (GRCm39) V117A probably damaging Het
Nr2c2 T A 6: 92,131,495 (GRCm39) S186T probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Plcd1 A T 9: 118,903,841 (GRCm39) C334S probably benign Het
Pomt1 T C 2: 32,138,658 (GRCm39) S425P possibly damaging Het
Pspc1 G T 14: 56,960,635 (GRCm39) P497T probably benign Het
Rnf123 G A 9: 107,948,651 (GRCm39) P58L probably benign Het
Rph3a T C 5: 121,086,896 (GRCm39) T435A probably damaging Het
Rsbn1 T C 3: 103,869,777 (GRCm39) L746P probably damaging Het
Sfrp2 A G 3: 83,680,446 (GRCm39) E202G possibly damaging Het
Slc25a38 T C 9: 119,946,598 (GRCm39) S111P probably damaging Het
Tonsl A T 15: 76,518,274 (GRCm39) L566H probably damaging Het
Tsc1 C A 2: 28,553,607 (GRCm39) D153E probably damaging Het
Vmn2r37 A T 7: 9,220,881 (GRCm39) H327Q possibly damaging Het
Other mutations in Tfcp2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Tfcp2l1 APN 1 118,580,612 (GRCm39) missense possibly damaging 0.70
IGL01725:Tfcp2l1 APN 1 118,596,366 (GRCm39) missense possibly damaging 0.80
R1272:Tfcp2l1 UTSW 1 118,560,043 (GRCm39) missense probably damaging 1.00
R1680:Tfcp2l1 UTSW 1 118,603,335 (GRCm39) missense probably damaging 0.99
R1959:Tfcp2l1 UTSW 1 118,597,119 (GRCm39) missense probably benign 0.40
R1965:Tfcp2l1 UTSW 1 118,580,653 (GRCm39) nonsense probably null
R3928:Tfcp2l1 UTSW 1 118,597,206 (GRCm39) missense possibly damaging 0.92
R4236:Tfcp2l1 UTSW 1 118,589,795 (GRCm39) missense probably benign 0.44
R4678:Tfcp2l1 UTSW 1 118,596,378 (GRCm39) missense probably benign 0.33
R4839:Tfcp2l1 UTSW 1 118,597,194 (GRCm39) missense probably benign 0.00
R4858:Tfcp2l1 UTSW 1 118,597,239 (GRCm39) missense possibly damaging 0.62
R5587:Tfcp2l1 UTSW 1 118,592,492 (GRCm39) missense possibly damaging 0.59
R5679:Tfcp2l1 UTSW 1 118,596,377 (GRCm39) missense probably benign
R6899:Tfcp2l1 UTSW 1 118,603,305 (GRCm39) missense probably benign
R7010:Tfcp2l1 UTSW 1 118,581,457 (GRCm39) missense probably damaging 1.00
R7155:Tfcp2l1 UTSW 1 118,596,362 (GRCm39) missense probably damaging 1.00
R7494:Tfcp2l1 UTSW 1 118,592,686 (GRCm39) missense probably damaging 1.00
R7849:Tfcp2l1 UTSW 1 118,603,325 (GRCm39) missense probably damaging 1.00
R8553:Tfcp2l1 UTSW 1 118,560,082 (GRCm39) missense probably damaging 1.00
R8794:Tfcp2l1 UTSW 1 118,560,118 (GRCm39) missense probably damaging 1.00
R8937:Tfcp2l1 UTSW 1 118,596,447 (GRCm39) missense possibly damaging 0.52
Z1177:Tfcp2l1 UTSW 1 118,584,228 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16