Incidental Mutation 'IGL01686:Hormad1'
ID |
103970 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01686
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 95485580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 256
(M256R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029754]
[ENSMUST00000090797]
[ENSMUST00000107154]
[ENSMUST00000171191]
|
AlphaFold |
Q9D5T7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029754
AA Change: M256R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029754 Gene: ENSMUSG00000028109 AA Change: M256R
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
24 |
221 |
4.7e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090797
AA Change: M256R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088303 Gene: ENSMUSG00000028109 AA Change: M256R
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107154
AA Change: M256R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102772 Gene: ENSMUSG00000028109 AA Change: M256R
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171191
AA Change: M256R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127180 Gene: ENSMUSG00000028109 AA Change: M256R
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
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 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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,548,801 (GRCm39) |
V1316A |
possibly damaging |
Het |
Ada |
T |
G |
2: 163,572,236 (GRCm39) |
K254N |
probably benign |
Het |
Adamts17 |
A |
G |
7: 66,490,037 (GRCm39) |
R40G |
probably benign |
Het |
Akr1d1 |
C |
T |
6: 37,507,178 (GRCm39) |
|
probably benign |
Het |
Aldh1l1 |
T |
A |
6: 90,536,215 (GRCm39) |
|
probably benign |
Het |
Bbox1 |
T |
A |
2: 110,095,831 (GRCm39) |
I378F |
probably benign |
Het |
BC028528 |
T |
C |
3: 95,796,212 (GRCm39) |
N50S |
probably damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,641,294 (GRCm39) |
S783T |
possibly damaging |
Het |
Cmpk2 |
C |
T |
12: 26,527,177 (GRCm39) |
R389W |
probably damaging |
Het |
Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
Crim1 |
T |
C |
17: 78,651,863 (GRCm39) |
L529P |
probably benign |
Het |
Ctps1 |
A |
G |
4: 120,411,183 (GRCm39) |
S278P |
probably benign |
Het |
Defb21 |
C |
A |
2: 152,416,821 (GRCm39) |
|
probably benign |
Het |
Ecm1 |
T |
A |
3: 95,643,376 (GRCm39) |
N308I |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,591 (GRCm39) |
S540P |
unknown |
Het |
Gabrp |
G |
T |
11: 33,502,826 (GRCm39) |
S346* |
probably null |
Het |
Gli2 |
C |
A |
1: 118,776,165 (GRCm39) |
C419F |
probably damaging |
Het |
Grid2 |
T |
A |
6: 64,297,180 (GRCm39) |
F514L |
probably benign |
Het |
Itsn2 |
T |
G |
12: 4,686,693 (GRCm39) |
|
probably benign |
Het |
Klhl38 |
A |
T |
15: 58,186,707 (GRCm39) |
D7E |
probably benign |
Het |
Map3k1 |
G |
A |
13: 111,891,196 (GRCm39) |
T1248I |
possibly damaging |
Het |
Mki67 |
A |
T |
7: 135,309,542 (GRCm39) |
V303E |
probably benign |
Het |
Mterf4 |
A |
T |
1: 93,232,443 (GRCm39) |
L136* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,217,391 (GRCm39) |
D61G |
possibly damaging |
Het |
Nf2 |
A |
T |
11: 4,768,613 (GRCm39) |
D85E |
probably benign |
Het |
Nmnat2 |
G |
T |
1: 152,952,743 (GRCm39) |
|
probably benign |
Het |
Olfm3 |
T |
A |
3: 114,916,497 (GRCm39) |
D476E |
probably benign |
Het |
Or14c45 |
T |
C |
7: 86,175,986 (GRCm39) |
V7A |
probably benign |
Het |
Or8b53 |
T |
A |
9: 38,667,550 (GRCm39) |
C189S |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,333,958 (GRCm39) |
|
probably benign |
Het |
Prrg1 |
G |
A |
X: 77,527,388 (GRCm39) |
A47V |
probably damaging |
Het |
Rgs22 |
A |
T |
15: 36,103,981 (GRCm39) |
I160K |
probably benign |
Het |
Sardh |
T |
C |
2: 27,079,625 (GRCm39) |
Y889C |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,956,110 (GRCm39) |
D605E |
probably benign |
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 |
IGL02023:Hormad1
|
APN |
3 |
95,485,604 (GRCm39) |
missense |
possibly damaging |
0.91 |
B6584:Hormad1
|
UTSW |
3 |
95,478,007 (GRCm39) |
splice site |
probably benign |
|
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 |
|
Posted On |
2014-01-21 |