Incidental Mutation 'R4536:Hormad1'
| ID |
500651 |
| 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 # |
R4536 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95492452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 343
(V343A)
|
| 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: V343A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: V343A
| 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: V343A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
AA Change: V343A
| 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: V343A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
AA Change: V343A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171191
AA Change: V343A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
AA Change: V343A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176541
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000198013
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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 |
|---|
| Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
| Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
| Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
| Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
| Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
| Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
| Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
| Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
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 |
|
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 |
|
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 |
|
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'- TCTACAGGACTTCCAGAGAGATG -3'
(R):5'- GGAATGTTGACCACAGCTTTGAG -3'
Sequencing Primer
(F):5'- GGACTTCCAGAGAGATGAAAGTATTC -3'
(R):5'- ACCACAGCTTTGAGGTATGTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation