Incidental Mutation 'R3880:Mael'
| ID |
312769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mael
|
| Ensembl Gene |
ENSMUSG00000040629 |
| Gene Name |
maelstrom spermatogenic transposon silencer |
| Synonyms |
4933405K18Rik |
| MMRRC Submission |
040794-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R3880 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166028954-166066313 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 166064437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038782]
[ENSMUST00000194057]
|
| AlphaFold |
Q8BVN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038782
|
| SMART Domains |
Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
| 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 benign
Transcript: ENSMUST00000194057
|
| SMART Domains |
Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
92% (35/38) |
| 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 |
|---|
| Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
| Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
A |
C |
19: 12,463,820 (GRCm39) |
S321A |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
| Evx1 |
A |
T |
6: 52,290,846 (GRCm39) |
D6V |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,800 (GRCm39) |
I16F |
probably damaging |
Het |
| Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
| Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
| Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,325,807 (GRCm39) |
M407K |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
| Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,314,075 (GRCm39) |
I487M |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTAGCCAGGCTGCCTAG -3'
(R):5'- AGTCCACGGGCTATTTTGAGG -3'
Sequencing Primer
(F):5'- GCCTAGCTGTTGTGTCTCCAC -3'
(R):5'- GTATCTAGCAATGGCTCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation