Incidental Mutation 'IGL03261:Hoxc11'
| ID |
414820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hoxc11
|
| Ensembl Gene |
ENSMUSG00000001656 |
| Gene Name |
homeobox C11 |
| Synonyms |
Hox-3.7 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
IGL03261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
102862961-102865136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102863178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 73
(V73A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001701]
|
| AlphaFold |
P31313 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001701
AA Change: V73A
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000001701
Gene: ENSMUSG00000001656
AA Change: V73A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3528
|
42 |
178 |
5.2e-52 |
PFAM |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
216 |
N/A |
INTRINSIC |
|
HOX
|
232 |
294 |
1.66e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
G |
7: 27,279,863 (GRCm39) |
Y281* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
| Afp |
T |
C |
5: 90,639,610 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,337,987 (GRCm39) |
T634A |
probably benign |
Het |
| Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
| Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,888,659 (GRCm39) |
R113S |
probably benign |
Het |
| Smyd5 |
T |
A |
6: 85,409,000 (GRCm39) |
M5K |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,842,789 (GRCm39) |
H587L |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
| Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly damaging |
Het |
|
| Other mutations in Hoxc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03122:Hoxc11
|
APN |
15 |
102,863,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Hoxc11
|
UTSW |
15 |
102,863,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Hoxc11
|
UTSW |
15 |
102,863,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0157:Hoxc11
|
UTSW |
15 |
102,863,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Hoxc11
|
UTSW |
15 |
102,863,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Hoxc11
|
UTSW |
15 |
102,863,591 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4342:Hoxc11
|
UTSW |
15 |
102,863,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Hoxc11
|
UTSW |
15 |
102,863,178 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6558:Hoxc11
|
UTSW |
15 |
102,863,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Hoxc11
|
UTSW |
15 |
102,863,487 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8346:Hoxc11
|
UTSW |
15 |
102,863,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8348:Hoxc11
|
UTSW |
15 |
102,863,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8423:Hoxc11
|
UTSW |
15 |
102,863,177 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2016-08-02 |
Incidental Mutation