Incidental Mutation 'R2914:Mael'
| ID |
254784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mael
|
| Ensembl Gene |
ENSMUSG00000040629 |
| Gene Name |
maelstrom spermatogenic transposon silencer |
| Synonyms |
4933405K18Rik |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.397)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166028954-166066313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166054179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 188
(F188I)
|
| 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: F202I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: F202I
| 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: F188I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: F188I
| 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 |
|
| Meta Mutation Damage Score |
0.4467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTGTAGCCTCCAAAATTTAGG -3'
(R):5'- ACAAATGTTTCCATGTGCATTACCC -3'
Sequencing Primer
(F):5'- CCTCCAAAATTTAGGAATTTAAAGGC -3'
(R):5'- GTGCATTACCCACTCTTCTGTAATC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation