Incidental Mutation 'R5895:Hormad1'
| ID |
501627 |
| 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 # |
R5895 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 95467044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015667]
[ENSMUST00000029754]
[ENSMUST00000090797]
[ENSMUST00000107154]
[ENSMUST00000116304]
[ENSMUST00000171191]
|
| AlphaFold |
Q9D5T7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015667
|
| SMART Domains |
Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
39 |
99 |
2.3e-27 |
SMART |
|
Pept_C1
|
126 |
342 |
2.3e-122 |
SMART |
|
| 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 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 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 benign
Transcript: ENSMUST00000116304
|
| SMART Domains |
Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
36 |
96 |
3.01e-23 |
SMART |
|
Pept_C1
|
123 |
339 |
6.79e-120 |
SMART |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.7%
|
| Validation Efficiency |
98% (64/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,752,216 (GRCm39) |
G426S |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,328,573 (GRCm39) |
|
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,144,229 (GRCm39) |
F988Y |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,098 (GRCm39) |
T249A |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,464,389 (GRCm39) |
V1516E |
probably benign |
Het |
| Chrnd |
T |
A |
1: 87,123,389 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,683,738 (GRCm39) |
G1506V |
unknown |
Het |
| Csgalnact2 |
A |
T |
6: 118,106,215 (GRCm39) |
C34* |
probably null |
Het |
| Ddx23 |
T |
C |
15: 98,549,832 (GRCm39) |
K195E |
probably benign |
Het |
| Dhps |
T |
G |
8: 85,800,880 (GRCm39) |
S240A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,234,599 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
C |
1: 80,514,676 (GRCm39) |
T1414A |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,805,812 (GRCm39) |
D928G |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,285,658 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,601 (GRCm39) |
I830F |
probably damaging |
Het |
| Elmod1 |
C |
T |
9: 53,843,091 (GRCm39) |
R29Q |
probably damaging |
Het |
| Ephx4 |
T |
A |
5: 107,577,518 (GRCm39) |
|
probably null |
Het |
| Evi5 |
A |
T |
5: 107,968,302 (GRCm39) |
M215K |
probably damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,390,678 (GRCm39) |
L287P |
probably damaging |
Het |
| Gbp9 |
G |
A |
5: 105,230,724 (GRCm39) |
S400L |
probably damaging |
Het |
| Gm6291 |
T |
C |
18: 6,371,365 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,688,596 (GRCm39) |
D301E |
probably benign |
Het |
| Gna14 |
C |
T |
19: 16,580,692 (GRCm39) |
R177C |
possibly damaging |
Het |
| Golph3 |
C |
T |
15: 12,339,756 (GRCm39) |
R90C |
probably damaging |
Het |
| Gpr142 |
T |
A |
11: 114,689,785 (GRCm39) |
C12* |
probably null |
Het |
| Hat1 |
T |
A |
2: 71,239,357 (GRCm39) |
N43K |
possibly damaging |
Het |
| Hivep1 |
A |
T |
13: 42,310,694 (GRCm39) |
E978V |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,795,805 (GRCm39) |
|
probably benign |
Het |
| Mars1 |
T |
C |
10: 127,132,418 (GRCm39) |
T860A |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,695,400 (GRCm39) |
L1146F |
probably damaging |
Het |
| Met |
A |
G |
6: 17,531,581 (GRCm39) |
T620A |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,358,834 (GRCm39) |
E378G |
probably benign |
Het |
| Mybpc3 |
T |
A |
2: 90,955,010 (GRCm39) |
V481D |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,256,133 (GRCm39) |
L1924Q |
probably damaging |
Het |
| Mylip |
G |
T |
13: 45,562,178 (GRCm39) |
E327* |
probably null |
Het |
| Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,452,500 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ncam1 |
T |
A |
9: 49,418,343 (GRCm39) |
T986S |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,314 (GRCm39) |
I112V |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,800 (GRCm39) |
I265T |
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,121,261 (GRCm39) |
G480S |
probably damaging |
Het |
| Por |
A |
G |
5: 135,744,838 (GRCm39) |
I34V |
probably benign |
Het |
| Ppp2r5b |
C |
T |
19: 6,284,764 (GRCm39) |
R33H |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,570,693 (GRCm39) |
Y2325* |
probably null |
Het |
| Prx |
A |
G |
7: 27,214,709 (GRCm39) |
E73G |
probably damaging |
Het |
| Rbms2 |
C |
A |
10: 127,981,556 (GRCm39) |
A126S |
possibly damaging |
Het |
| Rhoq |
C |
T |
17: 87,302,117 (GRCm39) |
A111V |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,403,240 (GRCm39) |
|
probably benign |
Het |
| Serbp1 |
A |
G |
6: 67,249,870 (GRCm39) |
*75W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,073,978 (GRCm39) |
V1351F |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,401,979 (GRCm39) |
V897A |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,407,038 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,780,487 (GRCm39) |
Y1088F |
probably damaging |
Het |
| Vmn2r105 |
G |
T |
17: 20,448,929 (GRCm39) |
Q83K |
probably benign |
Het |
| Wdr76 |
A |
T |
2: 121,359,323 (GRCm39) |
S221C |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,303,348 (GRCm39) |
F1545L |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,709,959 (GRCm39) |
I561V |
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 |
|
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 |
|
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'- TTGTACCTTCAGCGACCTG -3'
(R):5'- AAACCGTTAGTCCCATGGCG -3'
Sequencing Primer
(F):5'- CTTGGCCTGCTGGGGAC -3'
(R):5'- TTAGTCCCATGGCGACTGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation