Incidental Mutation 'R0704:Hormad1'
| ID |
63079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hormad1
|
| Ensembl Gene |
ENSMUSG00000028109 |
| Gene Name |
HORMA domain containing 1 |
| Synonyms |
4921522K05Rik, Nohma |
| MMRRC Submission |
038887-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0704 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 95473997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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 null
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 null
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 null
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 null
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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,381 (GRCm39) |
L441Q |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,953,746 (GRCm39) |
E550V |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,010,213 (GRCm39) |
F690L |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,080,906 (GRCm39) |
N132K |
probably damaging |
Het |
| B430305J03Rik |
A |
T |
3: 61,271,414 (GRCm39) |
Y110* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,778,796 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,239,567 (GRCm39) |
V1256A |
possibly damaging |
Het |
| Dkkl1 |
T |
C |
7: 44,859,539 (GRCm39) |
K128E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,115,249 (GRCm39) |
M1101K |
probably benign |
Het |
| Gpr89 |
T |
C |
3: 96,787,484 (GRCm39) |
|
probably null |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,998,911 (GRCm39) |
F658S |
possibly damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,279 (GRCm39) |
I390V |
possibly damaging |
Het |
| Krt84 |
G |
T |
15: 101,441,112 (GRCm39) |
H27N |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,821,277 (GRCm39) |
I3095T |
possibly damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Ms4a1 |
T |
C |
19: 11,230,596 (GRCm39) |
T202A |
probably benign |
Het |
| Nrbp2 |
A |
G |
15: 75,960,801 (GRCm39) |
S294P |
probably damaging |
Het |
| Or6b13 |
A |
G |
7: 139,782,548 (GRCm39) |
V45A |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,638,172 (GRCm39) |
V74A |
probably benign |
Het |
| Pde4b |
C |
T |
4: 102,344,589 (GRCm39) |
L155F |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,777,928 (GRCm39) |
S6P |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,293,704 (GRCm39) |
L150Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
| Rgs12 |
T |
G |
5: 35,180,466 (GRCm39) |
S253A |
possibly damaging |
Het |
| Sap130 |
C |
A |
18: 31,786,607 (GRCm39) |
T266K |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,857,155 (GRCm39) |
I379V |
possibly damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,875,021 (GRCm39) |
I94F |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,630,368 (GRCm39) |
N2263K |
probably damaging |
Het |
| Srsf12 |
A |
G |
4: 33,231,069 (GRCm39) |
R188G |
probably damaging |
Het |
| Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,629,729 (GRCm39) |
D470G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,573,095 (GRCm39) |
Q979R |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,251 (GRCm39) |
C402S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTACCAATATTTGGAAGCTGCCAC -3'
(R):5'- ggcatacttacatgcacTAGGGCAC -3'
Sequencing Primer
(F):5'- gttaaggcagggggattatgag -3'
(R):5'- tcccagcaaccacattgag -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation