Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Cdx1'

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

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

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

Meta Mutation Damage Score

0.9080

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- CATTGATTACCAGCCACTGTAGCCC -3'
(R):5'- TGTTACCACACAGCTCTGAGGTCC -3'

Sequencing Primer
(F):5'- ACTGTAGCCCGTGgtatgtg -3'
(R):5'- AGGTCCTCCGAGTGAACAG -3'

Posted On

2013-05-23