Incidental Mutation 'R4202:Hormad1'
| ID |
318784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hormad1
|
| Ensembl Gene |
ENSMUSG00000028109 |
| Gene Name |
HORMA domain containing 1 |
| Synonyms |
4921522K05Rik, Nohma |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95492509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 362
(R362H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029754]
[ENSMUST00000060323]
[ENSMUST00000090797]
[ENSMUST00000098861]
[ENSMUST00000107154]
[ENSMUST00000171191]
[ENSMUST00000177390]
|
| AlphaFold |
Q9D5T7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029754
AA Change: R362H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: R362H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
24 |
221 |
4.7e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060323
|
| SMART Domains |
Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPP34
|
50 |
275 |
8.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090797
AA Change: R362H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
AA Change: R362H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098861
|
| SMART Domains |
Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
106 |
277 |
5.1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107154
AA Change: R362H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
AA Change: R362H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171191
AA Change: R362H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
AA Change: R362H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198013
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176674
|
| SMART Domains |
Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
104 |
288 |
2.4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177390
|
| SMART Domains |
Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
106 |
332 |
8.3e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177399
|
| SMART Domains |
Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPP34
|
23 |
170 |
5.4e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176755
|
| SMART Domains |
Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
Pfam:GPP34
|
104 |
275 |
7.5e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
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 |
|
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 |
|
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'- GCATCTGAGTTATGTGTCAGTGTAAC -3'
(R):5'- CACTCAGGTGCATTTATCTGTG -3'
Sequencing Primer
(F):5'- TCAACTGTTGCCTGTTTG -3'
(R):5'- TGCATTTATCTGTGCAGAAACAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation