Incidental Mutation 'B6584:Hormad1'
| ID |
632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hormad1
|
| Ensembl Gene |
ENSMUSG00000028109 |
| Gene Name |
HORMA domain containing 1 |
| Synonyms |
4921522K05Rik, Nohma |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
B6584 (G3)
of strain
supermodel
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 95478007 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029754]
[ENSMUST00000090797]
[ENSMUST00000107154]
[ENSMUST00000171191]
|
| AlphaFold |
Q9D5T7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029754
|
| SMART Domains |
Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
24 |
221 |
4.7e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090797
|
| SMART Domains |
Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107154
|
| SMART Domains |
Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171191
|
| SMART Domains |
Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Coding Region Coverage |
|
| Het Detection Efficiency |
43.9% |
| Validation Efficiency |
89% (133/150) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozgous mice are infertile because of meiosis arrest associated with impaired synaptonemal-complex formation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(7)
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102H20Rik |
C |
T |
17: 3,609,853 (GRCm39) |
|
probably benign |
Homo |
| Acadl |
T |
A |
1: 66,887,632 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
C |
T |
4: 65,910,624 (GRCm39) |
V403M |
probably damaging |
Het |
| Clcc1 |
C |
T |
3: 108,580,229 (GRCm39) |
T302I |
probably damaging |
Homo |
| Resf1 |
C |
T |
6: 149,230,844 (GRCm39) |
H1297Y |
probably damaging |
Het |
| Rnf213 |
C |
T |
11: 119,316,895 (GRCm39) |
T1007I |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,605,391 (GRCm39) |
N239D |
probably damaging |
Homo |
| Samd4 |
A |
C |
14: 47,253,794 (GRCm39) |
H86P |
probably damaging |
Homo |
| Slc27a2 |
T |
C |
2: 126,403,562 (GRCm39) |
L195P |
possibly damaging |
Het |
| Srek1ip1 |
T |
C |
13: 104,953,882 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,649,462 (GRCm39) |
|
probably null |
Homo |
| Zfp37 |
A |
T |
4: 62,109,615 (GRCm39) |
V521E |
probably damaging |
Het |
|
| Other mutations in Hormad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01653:Hormad1
|
APN |
3 |
95,485,608 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01686:Hormad1
|
APN |
3 |
95,485,580 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02023:Hormad1
|
APN |
3 |
95,485,604 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0025:Hormad1
|
UTSW |
3 |
95,492,436 (GRCm39) |
unclassified |
probably benign |
|
|
R0662:Hormad1
|
UTSW |
3 |
95,482,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0704:Hormad1
|
UTSW |
3 |
95,473,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1854:Hormad1
|
UTSW |
3 |
95,487,317 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2199:Hormad1
|
UTSW |
3 |
95,475,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2371:Hormad1
|
UTSW |
3 |
95,482,910 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2411:Hormad1
|
UTSW |
3 |
95,487,326 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3522:Hormad1
|
UTSW |
3 |
95,483,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4075:Hormad1
|
UTSW |
3 |
95,485,514 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4202:Hormad1
|
UTSW |
3 |
95,492,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4535:Hormad1
|
UTSW |
3 |
95,492,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4536:Hormad1
|
UTSW |
3 |
95,492,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4844:Hormad1
|
UTSW |
3 |
95,478,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4903:Hormad1
|
UTSW |
3 |
95,492,531 (GRCm39) |
splice site |
probably null |
|
|
R4964:Hormad1
|
UTSW |
3 |
95,492,531 (GRCm39) |
splice site |
probably null |
|
|
R5135:Hormad1
|
UTSW |
3 |
95,492,531 (GRCm39) |
unclassified |
probably benign |
|
|
R5208:Hormad1
|
UTSW |
3 |
95,485,418 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5372:Hormad1
|
UTSW |
3 |
95,483,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Hormad1
|
UTSW |
3 |
95,469,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5895:Hormad1
|
UTSW |
3 |
95,467,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6124:Hormad1
|
UTSW |
3 |
95,483,613 (GRCm39) |
missense |
probably benign |
|
|
R6453:Hormad1
|
UTSW |
3 |
95,485,568 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7308:Hormad1
|
UTSW |
3 |
95,469,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7373:Hormad1
|
UTSW |
3 |
95,483,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Hormad1
|
UTSW |
3 |
95,469,926 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9040:Hormad1
|
UTSW |
3 |
95,487,470 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9360:Hormad1
|
UTSW |
3 |
95,483,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9790:Hormad1
|
UTSW |
3 |
95,494,693 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9791:Hormad1
|
UTSW |
3 |
95,494,693 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0025:Hormad1
|
UTSW |
3 |
95,488,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to A transversion at base pair 95374618 in the Genbank genomic region NC_000069 for the Hormad1 gene on chromosome 3 (GTAAGTACTT ->GTAAGTACTA). Two transcripts of the Hormad1 gene are displayed on Ensembl and Vega. The mutation is located within intron 5 from the ATG exon, ten nucleotides from the previous exon. The Hormad1 gene contains 16 total exons using Genbank record NM_026489.2. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Hormad1 gene encodes a 392 amino acid protein that monitors and regulates pairing, synapsis, or recombination between homologous chromosomes during meiosis. The 392 amino acid isoform 1 is localized to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. Isoform 2 has 372 amino acids with an alternative C-terminus and is localized to the cytoplasm (Uniprot Q9D5T7). Homozgous mice are infertile because of meiosis arrest.
|
| Posted On |
2011-04-12 |
Incidental Mutation