Mutagenetix > Incidental Mutation

Incidental Mutation 'RF038:Cdx1'

604689

Institutional Source

Beutler Lab

Gene Symbol

Cdx1

Ensembl Gene

ENSMUSG00000024619

Gene Name

caudal type homeobox 1

Synonyms

Cdx-1, Cdx

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

RF038 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

61151934-61169271 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CTGCTG to CTGCTGGTGCTG at 61152942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025521]

AlphaFold

P18111

Predicted Effect

probably benign
Transcript: ENSMUST00000025521

SMART Domains

Protein: ENSMUSP00000025521
Gene: ENSMUSG00000024619

Domain	Start	End	E-Value	Type
Pfam:Caudal_act	13	146	4.8e-31	PFAM
HOX	154	216	1.3e-25	SMART
low complexity region	217	246	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	TGT	TGTAGCTGCGGT	1: 82,891,301 (GRCm39)	probably benign	Het
Abcf1	CTCTTC	CTC	17: 36,274,093 (GRCm39)	probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)	probably benign	Het
AI837181	GGC	GGCAGC	19: 5,475,254 (GRCm39)	probably benign	Het
AI837181	GCG	GCGACG	19: 5,475,264 (GRCm39)	probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACACACACACTGCGCAGGGA	9: 86,922,495 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGAAGGAG	9: 99,465,750 (GRCm39)	probably benign	Het
Dennd10	ACTC	ACTCCTC	19: 60,803,056 (GRCm39)	probably benign	Het
Dmkn	GTGGAAGTGGTGG	GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG	7: 30,466,619 (GRCm39)	probably benign	Het
Dnaaf9	CTC	CTCATC	2: 130,612,664 (GRCm39)	probably null	Het
Enah	TGGCGGCGG	TGG	1: 181,749,500 (GRCm39)	probably benign	Het
Flywch1	ACCCACTCCTGGTGT	ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT	17: 23,981,138 (GRCm39)	probably null	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)	probably benign	Het
Fscb	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,519,343 (GRCm39)	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)	probably null	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)	probably null	Het
Gas1	CGAGGA	CGAGGAGGA	13: 60,324,342 (GRCm39)	probably benign	Het
Gas1	AG	AGATG	13: 60,324,344 (GRCm39)	probably benign	Het
Gm15155	CAAAAA	CAAAAACAAAAAA	X: 155,128,636 (GRCm39)	probably null	Het
Habp4	TGAGG	TG	13: 64,309,976 (GRCm39)	probably benign	Het
Hsdl2	CACAGCTGCAG	CACAGCTGCAGCAGCAGCGACAGCTGCAG	4: 59,610,648 (GRCm39)	probably benign	Het
Il2	CTT	CTTCAAGTGGGGATT	3: 37,179,970 (GRCm39)	probably null	Het
Irag2	TG	TGAGCACATCG	6: 145,119,516 (GRCm39)	probably benign	Het
Ivl	CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,607 (GRCm39)	probably benign	Het
Krtap28-10	CA	CAACCAAA	1: 83,019,849 (GRCm39)	probably benign	Het
Krtap28-10	CAGCCACAGCCACCACAGCCACAGCCACCA	CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA	1: 83,019,978 (GRCm39)	probably benign	Het
Lmx1b	CATCTTGATGCCGTCCAA	C	2: 33,530,521 (GRCm39)	probably null	Het
Mamld1	CAG	CAGGAG	X: 70,162,452 (GRCm39)	probably benign	Het
Nefh	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,027 (GRCm39)	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,029 (GRCm39)	probably benign	Het
Nefh	CTCACCTGGGGACTTGGC	CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC	11: 4,891,040 (GRCm39)	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,012 (GRCm39)	probably benign	Het
Nefh	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,018 (GRCm39)	probably benign	Het
Nefh	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,019 (GRCm39)	probably benign	Het
Pabpc6	AGCTGC	AGC	17: 9,887,044 (GRCm39)	probably benign	Het
Pkhd1l1	TTTTTT	TTTTTTTTGTTTTT	15: 44,421,899 (GRCm39)	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,756,783 (GRCm39)	probably benign	Het
Rassf6	GCAATGGGGATTC	GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC	5: 90,756,789 (GRCm39)	probably benign	Het
Rbm12	CAGGTATTGCGGGACC	CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC	2: 155,938,026 (GRCm39)	probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACACAGATG	17: 24,164,358 (GRCm39)	probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC	17: 78,984,711 (GRCm39)	probably null	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,635,068 (GRCm39)	probably benign	Het
Tcof1	TCCCAGAGATCCCC	TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC	18: 60,966,638 (GRCm39)	probably benign	Het
Tfeb	AGC	AGCGGC	17: 48,097,030 (GRCm39)	probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)	probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTCCTGCTGCT	15: 72,673,172 (GRCm39)	probably benign	Het
Zfhx3	CAGCA	CAGCACCAGAAGCA	8: 109,682,733 (GRCm39)	probably benign	Het

Other mutations in Cdx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E0370:Cdx1	UTSW	18	61,153,501 (GRCm39)	missense	probably damaging	1.00
FR4449:Cdx1	UTSW	18	61,152,953 (GRCm39)	small insertion	probably benign
FR4737:Cdx1	UTSW	18	61,152,950 (GRCm39)	small insertion	probably benign
FR4737:Cdx1	UTSW	18	61,152,946 (GRCm39)	small insertion	probably benign
FR4976:Cdx1	UTSW	18	61,152,941 (GRCm39)	small insertion	probably benign
FR4976:Cdx1	UTSW	18	61,152,939 (GRCm39)	small insertion	probably benign
R0218:Cdx1	UTSW	18	61,153,436 (GRCm39)	splice site	probably benign
R0481:Cdx1	UTSW	18	61,153,564 (GRCm39)	missense	probably damaging	1.00
R1776:Cdx1	UTSW	18	61,169,086 (GRCm39)	missense	probably benign	0.01
R1914:Cdx1	UTSW	18	61,152,970 (GRCm39)	missense	probably benign	0.01
R1915:Cdx1	UTSW	18	61,152,970 (GRCm39)	missense	probably benign	0.01
R2094:Cdx1	UTSW	18	61,168,984 (GRCm39)	missense	possibly damaging	0.85
R4191:Cdx1	UTSW	18	61,153,510 (GRCm39)	missense	possibly damaging	0.88
R5671:Cdx1	UTSW	18	61,152,971 (GRCm39)	missense	probably benign	0.01
R8145:Cdx1	UTSW	18	61,152,995 (GRCm39)	missense	probably damaging	1.00
RF036:Cdx1	UTSW	18	61,152,942 (GRCm39)	small insertion	probably benign
RF039:Cdx1	UTSW	18	61,152,942 (GRCm39)	small insertion	probably benign
RF040:Cdx1	UTSW	18	61,152,942 (GRCm39)	small insertion	probably benign
RF049:Cdx1	UTSW	18	61,152,938 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATTCAAGTCCCTAGATCCC -3'
(R):5'- GTCACAGAACACAGGAGCTC -3'

Sequencing Primer
(F):5'- TAGATCCCTAGACCCCAGGCTG -3'
(R):5'- CTCTGGAGAACTGGGGCCTTG -3'

Posted On

2019-12-04