Incidental Mutation 'R0925:Hormad2'
ID |
83157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hormad2
|
Ensembl Gene |
ENSMUSG00000020419 |
Gene Name |
HORMA domain containing 2 |
Synonyms |
4930529M09Rik |
MMRRC Submission |
039072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0925 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
4295814-4391105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4377297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 47
(T47M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020689]
[ENSMUST00000109948]
[ENSMUST00000109949]
[ENSMUST00000130174]
|
AlphaFold |
Q5SQP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020689
AA Change: T47M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020689 Gene: ENSMUSG00000020419 AA Change: T47M
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
27 |
65 |
1.9e-14 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109948
AA Change: T47M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105574 Gene: ENSMUSG00000020419 AA Change: T47M
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
28 |
226 |
8.3e-61 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109949
AA Change: T47M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105575 Gene: ENSMUSG00000020419 AA Change: T47M
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
27 |
226 |
6.4e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124249
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130174
AA Change: T47M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121715 Gene: ENSMUSG00000020419 AA Change: T47M
Domain | Start | End | E-Value | Type |
Pfam:HORMA
|
27 |
103 |
6.3e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149443
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene leads to arrest of spermatogenesis, male infertility, and abnormalities in male and female meiosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
Dnajb6 |
A |
T |
5: 29,957,398 (GRCm39) |
K60I |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
Elmod3 |
A |
T |
6: 72,545,921 (GRCm39) |
C274S |
probably damaging |
Het |
Eme1 |
T |
C |
11: 94,541,558 (GRCm39) |
E88G |
probably damaging |
Het |
Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
Gmnc |
A |
G |
16: 26,779,173 (GRCm39) |
L278P |
probably benign |
Het |
Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
Prmt8 |
T |
C |
6: 127,674,776 (GRCm39) |
K284R |
probably benign |
Het |
Rsl1d1 |
A |
T |
16: 11,017,553 (GRCm39) |
Y138N |
probably damaging |
Het |
Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
Wdfy2 |
A |
T |
14: 63,167,675 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Hormad2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02245:Hormad2
|
APN |
11 |
4,358,580 (GRCm39) |
splice site |
probably benign |
|
R0116:Hormad2
|
UTSW |
11 |
4,362,206 (GRCm39) |
splice site |
probably benign |
|
R0504:Hormad2
|
UTSW |
11 |
4,358,833 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1344:Hormad2
|
UTSW |
11 |
4,359,005 (GRCm39) |
critical splice donor site |
probably null |
|
R1418:Hormad2
|
UTSW |
11 |
4,359,005 (GRCm39) |
critical splice donor site |
probably null |
|
R1512:Hormad2
|
UTSW |
11 |
4,374,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Hormad2
|
UTSW |
11 |
4,358,848 (GRCm39) |
splice site |
probably null |
|
R2158:Hormad2
|
UTSW |
11 |
4,374,808 (GRCm39) |
nonsense |
probably null |
|
R3405:Hormad2
|
UTSW |
11 |
4,374,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R3727:Hormad2
|
UTSW |
11 |
4,358,598 (GRCm39) |
missense |
probably benign |
|
R3903:Hormad2
|
UTSW |
11 |
4,377,237 (GRCm39) |
splice site |
probably benign |
|
R6277:Hormad2
|
UTSW |
11 |
4,371,583 (GRCm39) |
splice site |
probably null |
|
R7468:Hormad2
|
UTSW |
11 |
4,362,245 (GRCm39) |
nonsense |
probably null |
|
R7633:Hormad2
|
UTSW |
11 |
4,296,662 (GRCm39) |
missense |
probably benign |
0.00 |
R7912:Hormad2
|
UTSW |
11 |
4,358,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Hormad2
|
UTSW |
11 |
4,296,648 (GRCm39) |
missense |
probably benign |
0.02 |
R8306:Hormad2
|
UTSW |
11 |
4,358,714 (GRCm39) |
missense |
probably benign |
0.32 |
R9625:Hormad2
|
UTSW |
11 |
4,377,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Hormad2
|
UTSW |
11 |
4,377,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R9628:Hormad2
|
UTSW |
11 |
4,377,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGATCTTGAAGGACACACCCATGAG -3'
(R):5'- TTGTACATGGTAACTTTGGAGAGAGCG -3'
Sequencing Primer
(F):5'- CCATGAGATAGGATTAACACAGTCTG -3'
(R):5'- GGGAAACTCCCAATTTTGCTTCAG -3'
|
Posted On |
2013-11-08 |