Incidental Mutation 'IGL01153:Mael'
| ID |
50366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mael
|
| Ensembl Gene |
ENSMUSG00000040629 |
| Gene Name |
maelstrom spermatogenic transposon silencer |
| Synonyms |
4933405K18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
IGL01153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
166028954-166066313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 166029919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 334
(K334E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038782]
[ENSMUST00000194057]
|
| AlphaFold |
Q8BVN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038782
AA Change: K348E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: K348E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMG_box_2
|
2 |
73 |
4.4e-27 |
PFAM |
|
Pfam:Maelstrom
|
128 |
329 |
1.6e-58 |
PFAM |
|
low complexity region
|
399 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194057
AA Change: K334E
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: K334E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMG_box_2
|
2 |
73 |
1.6e-24 |
PFAM |
|
Pfam:Maelstrom
|
128 |
314 |
2.6e-43 |
PFAM |
|
low complexity region
|
385 |
393 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,247 (GRCm39) |
I5309V |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,349,724 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,106,229 (GRCm39) |
V81E |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,924,649 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,985,502 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,092 (GRCm39) |
E307K |
probably damaging |
Het |
| Cyth2 |
T |
C |
7: 45,457,813 (GRCm39) |
Y120C |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,681,430 (GRCm39) |
D69E |
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,544 (GRCm39) |
M215K |
possibly damaging |
Het |
| Enox2 |
C |
A |
X: 48,151,015 (GRCm39) |
|
probably null |
Het |
| Fam120c |
T |
C |
X: 150,182,801 (GRCm39) |
|
probably null |
Het |
| Fam149b |
A |
G |
14: 20,427,949 (GRCm39) |
T319A |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 7,998,874 (GRCm39) |
|
probably null |
Het |
| Gcsh |
T |
A |
8: 117,710,549 (GRCm39) |
D138V |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,837,321 (GRCm39) |
H331Q |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,865,281 (GRCm39) |
N586D |
probably damaging |
Het |
| Idh3g |
A |
G |
X: 72,823,668 (GRCm39) |
V280A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,550 (GRCm39) |
S115P |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,370 (GRCm39) |
|
probably null |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Me3 |
A |
C |
7: 89,498,844 (GRCm39) |
T475P |
probably damaging |
Het |
| Mrpl18 |
A |
G |
17: 13,134,693 (GRCm39) |
L24P |
possibly damaging |
Het |
| Nol4 |
C |
A |
18: 22,902,850 (GRCm39) |
R460L |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,643,951 (GRCm39) |
E181V |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,864 (GRCm39) |
I256N |
probably damaging |
Het |
| Pex2 |
A |
T |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Pex3 |
A |
T |
10: 13,428,597 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
A |
G |
17: 34,420,215 (GRCm39) |
Y269C |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,615,096 (GRCm39) |
K62R |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,571,846 (GRCm39) |
G613D |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,204 (GRCm39) |
W875R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,845,451 (GRCm39) |
D149G |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,992 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,703 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,055 (GRCm39) |
G534R |
probably damaging |
Het |
|
| Other mutations in Mael |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Mael
|
APN |
1 |
166,032,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Mael
|
UTSW |
1 |
166,064,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0218:Mael
|
UTSW |
1 |
166,066,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Mael
|
UTSW |
1 |
166,062,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0812:Mael
|
UTSW |
1 |
166,062,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1544:Mael
|
UTSW |
1 |
166,029,859 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2096:Mael
|
UTSW |
1 |
166,053,244 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2914:Mael
|
UTSW |
1 |
166,054,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3031:Mael
|
UTSW |
1 |
166,032,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Mael
|
UTSW |
1 |
166,066,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Mael
|
UTSW |
1 |
166,066,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3880:Mael
|
UTSW |
1 |
166,064,437 (GRCm39) |
splice site |
probably benign |
|
|
R4594:Mael
|
UTSW |
1 |
166,063,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Mael
|
UTSW |
1 |
166,063,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Mael
|
UTSW |
1 |
166,029,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Mael
|
UTSW |
1 |
166,054,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8519:Mael
|
UTSW |
1 |
166,063,127 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8793:Mael
|
UTSW |
1 |
166,029,257 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9090:Mael
|
UTSW |
1 |
166,032,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9147:Mael
|
UTSW |
1 |
166,029,259 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9148:Mael
|
UTSW |
1 |
166,029,259 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9271:Mael
|
UTSW |
1 |
166,032,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9382:Mael
|
UTSW |
1 |
166,053,282 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0018:Mael
|
UTSW |
1 |
166,029,137 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation