Incidental Mutation 'R7010:Tfcp2l1'
ID544948
Institutional Source Beutler Lab
Gene Symbol Tfcp2l1
Ensembl Gene ENSMUSG00000026380
Gene Nametranscription factor CP2-like 1
SynonymsLBP-9, 4932442M07Rik, Crtr-1, 1810030F05Rik, D930018N21Rik, Cp2l1, Tcfcp2l1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.546) question?
Stock #R7010 (G1)
Quality Score225.009
Status Not validated
Chromosome1
Chromosomal Location118627945-118685168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118653727 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 137 (S137P)
Ref Sequence ENSEMBL: ENSMUSP00000027629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027629]
Predicted Effect probably damaging
Transcript: ENSMUST00000027629
AA Change: S137P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: S137P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik A C 6: 41,032,313 S196A probably benign Het
AL592187.3 A T 15: 77,602,597 Y58F probably benign Het
Ano10 T C 9: 122,253,124 T494A probably damaging Het
Asah2 A T 19: 32,054,554 F72I probably benign Het
Atat1 T C 17: 35,908,630 D114G probably damaging Het
Atp6v1e2 C T 17: 86,944,345 M208I probably benign Het
Bicd1 A G 6: 149,494,615 Y161C probably damaging Het
Camk2g T C 14: 20,741,444 S410G probably benign Het
Car2 C T 3: 14,900,053 P249L possibly damaging Het
Cdh23 T G 10: 60,530,991 I237L probably benign Het
Dlat T A 9: 50,657,974 K176N probably damaging Het
Dnajc12 T A 10: 63,397,280 C67S probably benign Het
Fat1 G T 8: 44,953,349 E1046* probably null Het
Gmip G A 8: 69,811,400 A137T probably damaging Het
Gpatch2l G A 12: 86,244,184 R47H probably damaging Het
Grk6 A G 13: 55,450,300 I62V possibly damaging Het
Hook1 G T 4: 96,014,811 L512F probably damaging Het
Ighe T C 12: 113,273,141 T36A Het
Il17rc A G 6: 113,479,288 N338S possibly damaging Het
Itgb6 T C 2: 60,649,978 Y338C probably damaging Het
Kcnd2 A G 6: 21,216,708 Y137C probably damaging Het
L3mbtl3 T A 10: 26,282,861 probably null Het
Lcn3 T C 2: 25,766,056 F41S probably damaging Het
Map3k8 T C 18: 4,334,060 H344R probably damaging Het
Marf1 A T 16: 14,137,001 I884N probably damaging Het
Nalcn G A 14: 123,293,465 T1387I probably damaging Het
Nrros T C 16: 32,143,580 T540A probably damaging Het
Olfr487 A T 7: 108,212,142 I129N probably damaging Het
Pank2 T C 2: 131,280,373 Y273H probably benign Het
Pgrmc2 A G 3: 41,082,633 V121A probably damaging Het
Phldb2 C T 16: 45,751,505 V1175M probably damaging Het
Ranbp2 A G 10: 58,454,571 probably null Het
Rsrc1 C T 3: 66,994,649 P44L unknown Het
Syt7 A G 19: 10,417,990 T55A probably benign Het
Tom1 T A 8: 75,051,975 V140D probably damaging Het
Ttc23l T G 15: 10,515,138 I385L probably damaging Het
Vmn1r122 A G 7: 21,133,971 V53A probably damaging Het
Vmn2r1 C T 3: 64,104,725 T669I probably benign Het
Vmn2r86 A G 10: 130,455,857 L13P probably benign Het
Zfp958 T C 8: 4,628,377 I134T probably benign Het
Other mutations in Tfcp2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Tfcp2l1 APN 1 118652882 missense possibly damaging 0.70
IGL01725:Tfcp2l1 APN 1 118668636 missense possibly damaging 0.80
IGL02281:Tfcp2l1 APN 1 118669380 splice site probably benign
R1272:Tfcp2l1 UTSW 1 118632313 missense probably damaging 1.00
R1680:Tfcp2l1 UTSW 1 118675605 missense probably damaging 0.99
R1959:Tfcp2l1 UTSW 1 118669389 missense probably benign 0.40
R1965:Tfcp2l1 UTSW 1 118652923 nonsense probably null
R3928:Tfcp2l1 UTSW 1 118669476 missense possibly damaging 0.92
R4236:Tfcp2l1 UTSW 1 118662065 missense probably benign 0.44
R4678:Tfcp2l1 UTSW 1 118668648 missense probably benign 0.33
R4839:Tfcp2l1 UTSW 1 118669464 missense probably benign 0.00
R4858:Tfcp2l1 UTSW 1 118669509 missense possibly damaging 0.62
R5587:Tfcp2l1 UTSW 1 118664762 missense possibly damaging 0.59
R5679:Tfcp2l1 UTSW 1 118668647 missense probably benign
R6899:Tfcp2l1 UTSW 1 118675575 missense probably benign
R7155:Tfcp2l1 UTSW 1 118668632 missense probably damaging 1.00
R7494:Tfcp2l1 UTSW 1 118664956 missense probably damaging 1.00
R7849:Tfcp2l1 UTSW 1 118675595 missense probably damaging 1.00
R8553:Tfcp2l1 UTSW 1 118632352 missense probably damaging 1.00
R8794:Tfcp2l1 UTSW 1 118632388 missense probably damaging 1.00
Z1177:Tfcp2l1 UTSW 1 118656498 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCATAGCAATTCCAGCCAG -3'
(R):5'- AATGTTCCTGACCTGGACCC -3'

Sequencing Primer
(F):5'- AGGCTGCCTGCTAGCGG -3'
(R):5'- GACCCCAAGTCCTCCCGTC -3'
Posted On2019-05-13