Mutagenetix > Incidental Mutation

Incidental Mutation 'RF036:Cdx1'

604604

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 #

RF036 (G1)

Quality Score

214.458

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 CTGCTGTTGCTG 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	Mutation	Predicted Effect	Zygosity
Abca17	T	TCCCTG	17: 24,506,701 (GRCm39)		probably benign	Het
Acap3	G	GGGCTGCATCCTGGGC	4: 155,989,544 (GRCm39)		probably benign	Het
Adgra3	GGCCGC	GGC	5: 50,215,983 (GRCm39)		probably benign	Het
Blm	CCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCT	7: 80,162,662 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGG	19: 47,129,716 (GRCm39)		probably benign	Het
Cherp	ACCTGGACC	AC	8: 73,215,888 (GRCm39)		probably null	Het
Cherp	TGGACC	T	8: 73,215,891 (GRCm39)		probably null	Het
Cyb5r4	CAGACACACTGCC	CAGACACACTGCCTAGGGATGTGATAGACACACTGCC	9: 86,922,483 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Fam171b	GCAGC	GCAGCAACAGC	2: 83,643,236 (GRCm39)		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)		probably benign	Het
Fsip2	TTTT	TTTTTCTTT	2: 82,814,707 (GRCm39)		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,142 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAATTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Iqcf4	TCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT	9: 106,447,810 (GRCm39)		probably benign	Het
Ivl	TGCTGCTGCTGCTGC	T	3: 92,479,648 (GRCm39)		probably null	Het
Kif12	C	CCTCCACCCGGCGGGT	4: 63,089,664 (GRCm39)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,339,381 (GRCm39)		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 28,743,400 (GRCm39)		probably null	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGGAG	X: 70,162,434 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,441 (GRCm39)		probably benign	Het
Morn4	GTGAG	GTGAGTCAGGCAATGAG	19: 42,064,553 (GRCm39)		probably null	Het
Nefh	GGGAC	GGGACGTGGCATCACCTGTGGAC	11: 4,891,048 (GRCm39)		probably benign	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,010 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,016 (GRCm39)		probably benign	Het
Nefh	TGGCCTC	TGGCCTCGCCTGGGGACTGGGCCTC	11: 4,891,036 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCA	TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA	2: 119,458,068 (GRCm39)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA	2: 119,458,075 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,300,539 (GRCm39)		probably benign	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rnf144a	TCTCTCTCTC	TCTCTCTCTCTCTCTCACTCTCTCTC	12: 26,364,007 (GRCm39)		probably benign	Het
Rnf144a	CTCTC	CTCTCTCTCTCTCTCTATCTC	12: 26,364,012 (GRCm39)		probably benign	Het
Rpgrip1	AGAGGAAG	A	14: 52,386,998 (GRCm39)		probably null	Het
Rsf1	CG	CGATG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd1a	GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,472 (GRCm39)		probably benign	Het
Spmap2l	G	GCGATCCTCCCCAGTCCCGCAAGGCCAT	5: 77,164,276 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,191,419 (GRCm39)	E591D	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC	17: 78,984,706 (GRCm39)		probably null	Het
Tcof1	CT	CTAGT	18: 60,961,480 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,808 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,028 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,673,169 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Usp2	ACTTAC	ACTTACTCATGTGACCCGTTCTTCCCTTAC	9: 44,000,421 (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
RF038: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'- AGCATTCAAGTCCCTAGATCCC -3'
(R):5'- GTCACAGAACACAGGAGCTC -3'

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

Posted On

2019-12-04