Incidental Mutation 'RF049:Cdx1'
| ID |
605116 |
| 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)
|
| Stock # |
RF049 (G1)
|
| Quality Score |
179.468 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61151934-61169271 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GGGGCTG to GGGGCTGGGGCTG
at 61152938 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: 98.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
GTAGGA |
G |
5: 26,053,486 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Begain |
GCGCCCCCGCC |
GCGCCCCCGCCCCCGCC |
12: 108,999,340 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCC |
CAGCCCTAGCC |
11: 101,080,418 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
CCCAGCA |
11: 101,080,422 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CCTGGTGT |
CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT |
17: 23,981,145 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTCAGGCTGGGG |
C |
X: 71,313,883 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
AGCTGCAGGAGCAGCCACAGCTGCAGGAG |
AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG |
4: 59,610,633 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGATGCAGCAGCAGCCACGG |
4: 59,610,651 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CTCCAGCTCCAGCTCCAGCTCCAG |
CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,367 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Nefh |
ACTTGGCCTCAGCTGG |
ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CACGTTAGCAGTGAGGAGCAAGCTGAGA |
CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,064 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ACTCATGGTCCTGTAGAGCAATGGGGATTC |
ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,772 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
TCGGCCCACTCAGCCCACTCGGCC |
TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC |
5: 129,646,808 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
TCATCAG |
T |
2: 129,451,123 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,150 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCTGCTGCTG |
CTGCTGCTGCTGCTGATGCTGCTGCTGCTG |
15: 72,673,155 (GRCm39) |
|
probably benign |
Het |
| Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTACCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
| Tspan33 |
G |
GCTGT |
6: 29,709,997 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
AAAAA |
AAAAAA |
13: 21,668,881 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAGAACAGGTCCTTGGG -3'
(R):5'- GTCACAGAACACAGGAGCTC -3'
Sequencing Primer
(F):5'- TCCTTGGGCCCCAGAAAAG -3'
(R):5'- CTCTGGAGAACTGGGGCCTTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation