Incidental Mutation 'R0481:Cdx1'
ID 43409
Institutional Source Beutler Lab
Gene Symbol Cdx1
Ensembl Gene ENSMUSG00000024619
Gene Name caudal type homeobox 1
Synonyms Cdx-1, Cdx
MMRRC Submission 038681-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R0481 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 61018862-61036199 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61020492 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 158 (R158H)
Ref Sequence ENSEMBL: ENSMUSP00000025521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025521]
AlphaFold P18111
Predicted Effect probably damaging
Transcript: ENSMUST00000025521
AA Change: R158H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025521
Gene: ENSMUSG00000024619
AA Change: R158H

Pfam:Caudal_act 13 146 4.8e-31 PFAM
HOX 154 216 1.3e-25 SMART
low complexity region 217 246 N/A INTRINSIC
Meta Mutation Damage Score 0.9080 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 95% (89/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in abnormalities of the basiocciptal bone, vertebrae, and ribs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,279,369 (GRCm38) N39Y probably benign Het
Adamts10 C T 17: 33,549,373 (GRCm38) Q840* probably null Het
Aff2 C T X: 69,834,642 (GRCm38) T678I probably damaging Het
Ahctf1 A G 1: 179,760,271 (GRCm38) V1418A probably benign Het
Ankrd11 G A 8: 122,900,036 (GRCm38) R136C probably damaging Het
Arf5 A G 6: 28,426,076 (GRCm38) Y154C probably damaging Het
AW551984 A G 9: 39,600,616 (GRCm38) V33A probably null Het
B4galt5 A G 2: 167,309,234 (GRCm38) L118P probably damaging Het
Bcl9l A G 9: 44,506,682 (GRCm38) I606V probably benign Het
Bdp1 A G 13: 100,041,454 (GRCm38) I1969T probably benign Het
Bicd1 A T 6: 149,511,891 (GRCm38) D260V possibly damaging Het
Cap1 A T 4: 122,863,075 (GRCm38) H272Q possibly damaging Het
Ccnk A G 12: 108,199,309 (GRCm38) probably benign Het
Cd209f A T 8: 4,105,558 (GRCm38) probably null Het
Cdk13 C A 13: 17,719,494 (GRCm38) A1123S probably damaging Het
Chd8 A G 14: 52,237,206 (GRCm38) S123P probably benign Het
Cwc22 G A 2: 77,908,111 (GRCm38) A497V probably damaging Het
Cwh43 T C 5: 73,418,027 (GRCm38) S296P probably damaging Het
Dhx38 A T 8: 109,556,216 (GRCm38) probably benign Het
Dnah5 T A 15: 28,383,599 (GRCm38) M2989K probably benign Het
Dpy19l4 A C 4: 11,272,993 (GRCm38) probably benign Het
F11r A T 1: 171,461,279 (GRCm38) H155L probably benign Het
Fcgbpl1 A T 7: 28,153,749 (GRCm38) D1487V probably damaging Het
Fitm2 A G 2: 163,469,714 (GRCm38) V193A probably benign Het
Foxk1 T A 5: 142,448,823 (GRCm38) S281T probably benign Het
Furin A G 7: 80,393,549 (GRCm38) C305R probably damaging Het
Fut8 T A 12: 77,448,560 (GRCm38) V308D probably damaging Het
Gjb3 T A 4: 127,326,332 (GRCm38) I136F probably benign Het
Glmn A T 5: 107,560,934 (GRCm38) S385T probably benign Het
Glp1r T A 17: 30,931,217 (GRCm38) M371K probably benign Het
Gpr179 T C 11: 97,349,718 (GRCm38) H293R probably damaging Het
H2-M11 A T 17: 36,548,954 (GRCm38) R280* probably null Het
Hadhb T A 5: 30,168,545 (GRCm38) H78Q probably damaging Het
Hectd4 A G 5: 121,295,506 (GRCm38) probably benign Het
Hexa A G 9: 59,555,410 (GRCm38) probably benign Het
Hsh2d G A 8: 72,200,460 (GRCm38) D229N probably benign Het
Hyal6 G A 6: 24,743,418 (GRCm38) C371Y probably damaging Het
Il1rap T C 16: 26,692,835 (GRCm38) Y210H probably damaging Het
Ino80 A T 2: 119,431,016 (GRCm38) H722Q probably damaging Het
Kcnt1 A G 2: 25,892,496 (GRCm38) N200S probably damaging Het
Kif27 T A 13: 58,311,264 (GRCm38) probably benign Het
Lyst T C 13: 13,677,952 (GRCm38) V2179A probably benign Het
Macf1 C A 4: 123,484,022 (GRCm38) probably null Het
Mamdc4 A G 2: 25,571,216 (GRCm38) M1T probably null Het
Mansc4 A G 6: 147,075,227 (GRCm38) I297T possibly damaging Het
Mdn1 G A 4: 32,767,182 (GRCm38) probably benign Het
Mib2 A G 4: 155,656,062 (GRCm38) probably benign Het
Mon2 A G 10: 123,013,396 (GRCm38) V1333A possibly damaging Het
Ndst2 T C 14: 20,724,468 (GRCm38) D840G possibly damaging Het
Nell2 A T 15: 95,432,682 (GRCm38) probably null Het
Or4c102 A T 2: 88,592,655 (GRCm38) I284F probably damaging Het
Or4k51 T A 2: 111,754,585 (GRCm38) M112K probably damaging Het
Or5g29 C A 2: 85,591,104 (GRCm38) A188E possibly damaging Het
Pde5a C T 3: 122,818,077 (GRCm38) probably benign Het
Phip A G 9: 82,876,716 (GRCm38) probably benign Het
Polr2b A G 5: 77,332,082 (GRCm38) I561V possibly damaging Het
Ppp4r3c2 T C X: 89,752,693 (GRCm38) S44P probably damaging Het
Prkg2 A T 5: 98,994,655 (GRCm38) probably null Het
Prl8a6 T C 13: 27,433,101 (GRCm38) D201G probably benign Het
Ptk6 G A 2: 181,202,527 (GRCm38) probably benign Het
Ptprn2 T C 12: 117,211,846 (GRCm38) probably benign Het
Rdh1 G T 10: 127,763,124 (GRCm38) R158L probably damaging Het
Rhbdl3 T C 11: 80,323,349 (GRCm38) probably benign Het
Rims4 A T 2: 163,864,120 (GRCm38) V198E probably damaging Het
Ripk1 T C 13: 34,009,750 (GRCm38) S32P probably damaging Het
Rnf13 T A 3: 57,779,451 (GRCm38) N88K probably damaging Het
Rnf13 C A 3: 57,807,053 (GRCm38) L178I probably damaging Het
Slc17a5 G T 9: 78,538,302 (GRCm38) probably null Het
Sorcs1 A G 19: 50,636,453 (GRCm38) probably benign Het
Spata31e3 T A 13: 50,246,964 (GRCm38) Q442L probably benign Het
Srpk1 G A 17: 28,590,244 (GRCm38) probably benign Het
Stk10 A G 11: 32,614,708 (GRCm38) K840E probably damaging Het
Suco A G 1: 161,862,313 (GRCm38) probably benign Het
T2 G A 17: 8,417,175 (GRCm38) probably null Het
Tbc1d5 A G 17: 50,919,051 (GRCm38) S255P probably damaging Het
Tenm1 T C X: 42,536,181 (GRCm38) Y2254C probably damaging Het
Tex9 T A 9: 72,478,396 (GRCm38) K11* probably null Het
Tlr4 A G 4: 66,827,916 (GRCm38) I29V probably benign Het
Tmem255a A T X: 38,199,646 (GRCm38) V278D probably damaging Het
Trpc3 T C 3: 36,624,417 (GRCm38) I840V probably benign Het
Trpm3 G A 19: 22,901,071 (GRCm38) R622Q possibly damaging Het
Vmn1r214 T A 13: 23,035,294 (GRCm38) Y319* probably null Het
Vmn1r53 A T 6: 90,223,718 (GRCm38) V208E probably damaging Het
Vmn2r89 T C 14: 51,456,120 (GRCm38) F309S probably damaging Het
Xirp2 T A 2: 67,509,909 (GRCm38) F831L possibly damaging Het
Yes1 G T 5: 32,640,405 (GRCm38) E23* probably null Het
Zfp292 A T 4: 34,810,059 (GRCm38) M995K probably benign Het
Other mutations in Cdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
E0370:Cdx1 UTSW 18 61,020,429 (GRCm38) missense probably damaging 1.00
FR4449:Cdx1 UTSW 18 61,019,881 (GRCm38) small insertion probably benign
FR4737:Cdx1 UTSW 18 61,019,878 (GRCm38) small insertion probably benign
FR4737:Cdx1 UTSW 18 61,019,874 (GRCm38) small insertion probably benign
FR4976:Cdx1 UTSW 18 61,019,869 (GRCm38) small insertion probably benign
FR4976:Cdx1 UTSW 18 61,019,867 (GRCm38) small insertion probably benign
R0218:Cdx1 UTSW 18 61,020,364 (GRCm38) splice site probably benign
R1776:Cdx1 UTSW 18 61,036,014 (GRCm38) missense probably benign 0.01
R1914:Cdx1 UTSW 18 61,019,898 (GRCm38) missense probably benign 0.01
R1915:Cdx1 UTSW 18 61,019,898 (GRCm38) missense probably benign 0.01
R2094:Cdx1 UTSW 18 61,035,912 (GRCm38) missense possibly damaging 0.85
R4191:Cdx1 UTSW 18 61,020,438 (GRCm38) missense possibly damaging 0.88
R5671:Cdx1 UTSW 18 61,019,899 (GRCm38) missense probably benign 0.01
R8145:Cdx1 UTSW 18 61,019,923 (GRCm38) missense probably damaging 1.00
RF036:Cdx1 UTSW 18 61,019,870 (GRCm38) small insertion probably benign
RF038:Cdx1 UTSW 18 61,019,870 (GRCm38) small insertion probably benign
RF039:Cdx1 UTSW 18 61,019,870 (GRCm38) small insertion probably benign
RF040:Cdx1 UTSW 18 61,019,870 (GRCm38) small insertion probably benign
RF049:Cdx1 UTSW 18 61,019,866 (GRCm38) small insertion probably benign
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- ACTGTAGCCCGTGgtatgtg -3'
Posted On 2013-05-23