Incidental Mutation 'R0662:Hormad1'
ID |
61875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hormad1
|
Ensembl Gene |
ENSMUSG00000028109 |
Gene Name |
HORMA domain containing 1 |
Synonyms |
4921522K05Rik, Nohma |
MMRRC Submission |
038847-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0662 (G1)
|
Quality Score |
136 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95466988-95494982 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95482910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 132
(I132T)
|
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: I132T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000029754 Gene: ENSMUSG00000028109 AA Change: I132T
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
24 |
221 |
4.7e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090797
AA Change: I132T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000088303 Gene: ENSMUSG00000028109 AA Change: I132T
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107154
AA Change: I132T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102772 Gene: ENSMUSG00000028109 AA Change: I132T
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171191
AA Change: I132T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000127180 Gene: ENSMUSG00000028109 AA Change: I132T
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
23 |
221 |
5.4e-60 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,898,338 (GRCm39) |
S241P |
probably benign |
Het |
Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,802,964 (GRCm39) |
V251A |
possibly damaging |
Het |
Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
Eno2 |
A |
T |
6: 124,740,774 (GRCm39) |
F218I |
probably damaging |
Het |
Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
Plekhh1 |
A |
G |
12: 79,125,767 (GRCm39) |
T1268A |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,621,288 (GRCm39) |
L262Q |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
Unc5b |
C |
A |
10: 60,608,362 (GRCm39) |
R616L |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACCCACTCTGCTGAGGTGTGACTC -3'
(R):5'- TGCTCCATTTTGAAAGCTTGTCTGAGG -3'
Sequencing Primer
(F):5'- TGAGCACTTGAAACTCCAGTAG -3'
(R):5'- gggagaggtgataaaggaagg -3'
|
Posted On |
2013-07-30 |