Incidental Mutation 'IGL00907:Mael'
| ID |
26614 |
| 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 # |
IGL00907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
166028954-166066313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166032418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 314
(Y314H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038782]
[ENSMUST00000194057]
|
| AlphaFold |
Q8BVN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038782
AA Change: Y328H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: Y328H
| 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 |
probably damaging
Transcript: ENSMUST00000194057
AA Change: Y314H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: Y314H
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
A |
G |
10: 4,454,051 (GRCm38) |
F379V |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
| Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
| Fam234a |
G |
A |
17: 26,432,500 (GRCm39) |
R550W |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
| Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
| Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,590,097 (GRCm39) |
D175V |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
| Phf24 |
C |
T |
4: 42,938,667 (GRCm39) |
T264I |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,476,765 (GRCm39) |
N206S |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
|
| Other mutations in Mael |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Mael
|
APN |
1 |
166,029,919 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2013-04-17 |
Incidental Mutation