Incidental Mutation 'IGL03037:Cripto'
ID 408704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cripto
Ensembl Gene ENSMUSG00000032494
Gene Name cripto, EGF-CFC family member
Synonyms CR1, Tdgf1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # IGL03037
Quality Score
Status
Chromosome 9
Chromosomal Location 110768676-110775226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110772288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 36 (W36L)
Ref Sequence ENSEMBL: ENSMUSP00000143394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035075] [ENSMUST00000197460] [ENSMUST00000199196] [ENSMUST00000199782]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035075
AA Change: W36L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035075
Gene: ENSMUSG00000032494
AA Change: W36L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 65 91 1.8e1 SMART
Pfam:CFC 99 133 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197460
AA Change: W36L

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143394
Gene: ENSMUSG00000032494
AA Change: W36L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000199196
AA Change: G37W
SMART Domains Protein: ENSMUSP00000142397
Gene: ENSMUSG00000032494
AA Change: G37W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199782
SMART Domains Protein: ENSMUSP00000143669
Gene: ENSMUSG00000032494

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 31 57 8.9e-2 SMART
Pfam:CFC 65 90 1.4e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in rostral-caudal axis formation, embryonic development and heart development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,807,294 (GRCm39) L539P probably damaging Het
Adam23 A T 1: 63,610,176 (GRCm39) Q726L possibly damaging Het
Ago1 T C 4: 126,355,587 (GRCm39) E74G probably benign Het
Atp6v1d C A 12: 78,904,122 (GRCm39) probably benign Het
Bltp1 C A 3: 37,023,356 (GRCm39) S2227R probably benign Het
Bltp1 T C 3: 37,023,357 (GRCm39) S2229P probably damaging Het
Cadm4 T A 7: 24,200,220 (GRCm39) L243Q probably damaging Het
Camsap2 C A 1: 136,202,595 (GRCm39) L1274F probably damaging Het
Car10 A G 11: 92,991,044 (GRCm39) probably benign Het
Catsperd A T 17: 56,948,583 (GRCm39) D186V possibly damaging Het
Cdc42bpg A G 19: 6,361,230 (GRCm39) Y285C probably damaging Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Cln8 A T 8: 14,944,679 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Ddx5 T C 11: 106,672,930 (GRCm39) N532D possibly damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Dock8 A G 19: 25,063,545 (GRCm39) E249G probably benign Het
Espnl T C 1: 91,269,643 (GRCm39) V393A probably benign Het
Fhip1b A T 7: 105,028,293 (GRCm39) H885Q probably benign Het
Frrs1 T C 3: 116,696,116 (GRCm39) probably benign Het
Fstl4 C A 11: 53,059,050 (GRCm39) A503D possibly damaging Het
Gda T A 19: 21,411,673 (GRCm39) I42L possibly damaging Het
Gprc5d C A 6: 135,093,319 (GRCm39) C196F probably damaging Het
Hnrnpa0 A G 13: 58,275,767 (GRCm39) F121L probably damaging Het
Hsd3b7 C T 7: 127,400,322 (GRCm39) H24Y probably damaging Het
Ift140 T C 17: 25,311,368 (GRCm39) S1188P probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mmp16 C T 4: 17,996,222 (GRCm39) P104S probably damaging Het
Mpst C A 15: 78,294,798 (GRCm39) R177S probably benign Het
Nek1 A T 8: 61,487,086 (GRCm39) T279S probably benign Het
Or1q1 C T 2: 36,887,560 (GRCm39) T246I probably benign Het
Or1x2 A T 11: 50,918,117 (GRCm39) Y96F probably damaging Het
Or4c11b A G 2: 88,625,299 (GRCm39) Y191C probably damaging Het
Or7g18 T A 9: 18,786,668 (GRCm39) I12N probably damaging Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pik3r4 A G 9: 105,528,012 (GRCm39) D455G probably damaging Het
Piwil4 T C 9: 14,616,308 (GRCm39) I756V possibly damaging Het
Pkhd1 A G 1: 20,592,923 (GRCm39) L1730P probably benign Het
Pnpla3 T C 15: 84,056,960 (GRCm39) I155T probably damaging Het
Prmt8 T C 6: 127,680,940 (GRCm39) Y243C possibly damaging Het
Rbfox1 T A 16: 7,110,147 (GRCm39) probably benign Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Scaf8 A G 17: 3,240,496 (GRCm39) K623E probably damaging Het
Slc26a4 A T 12: 31,581,686 (GRCm39) probably benign Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Smarca4 T C 9: 21,544,231 (GRCm39) probably benign Het
Sos1 T C 17: 80,727,758 (GRCm39) D775G probably damaging Het
Spag17 G A 3: 99,979,486 (GRCm39) probably null Het
Spata31d1d T A 13: 59,873,947 (GRCm39) E1196V possibly damaging Het
Sqle T A 15: 59,193,246 (GRCm39) Y208N probably damaging Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tenm3 A G 8: 48,751,913 (GRCm39) F959L possibly damaging Het
Tnfrsf19 T A 14: 61,261,721 (GRCm39) K26I possibly damaging Het
Trappc10 A T 10: 78,034,869 (GRCm39) probably benign Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Trpm3 A G 19: 22,866,776 (GRCm39) T536A possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Uaca A G 9: 60,748,147 (GRCm39) D37G probably damaging Het
Ube3a T C 7: 58,896,971 (GRCm39) probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Ugp2 T A 11: 21,282,540 (GRCm39) K151* probably null Het
Wasf1 A G 10: 40,806,654 (GRCm39) K99R probably benign Het
Wnt4 C T 4: 137,016,472 (GRCm39) T42M possibly damaging Het
Zfp54 T A 17: 21,650,477 (GRCm39) D17E probably damaging Het
Other mutations in Cripto
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Cripto APN 9 110,771,691 (GRCm39) missense probably damaging 1.00
R1171:Cripto UTSW 9 110,772,235 (GRCm39) missense probably benign 0.37
R3792:Cripto UTSW 9 110,772,258 (GRCm39) missense probably benign 0.02
R4012:Cripto UTSW 9 110,769,781 (GRCm39) missense probably benign
R5488:Cripto UTSW 9 110,772,265 (GRCm39) missense probably benign 0.01
R5955:Cripto UTSW 9 110,773,281 (GRCm39) missense unknown
R6536:Cripto UTSW 9 110,773,257 (GRCm39) critical splice donor site probably null
R7624:Cripto UTSW 9 110,775,017 (GRCm39) start gained probably benign
R8206:Cripto UTSW 9 110,773,352 (GRCm39) intron probably benign
Posted On 2016-08-02