Incidental Mutation 'IGL00535:Spata6l'
ID |
5675 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spata6l
|
Ensembl Gene |
ENSMUSG00000064202 |
Gene Name |
spermatogenesis associated 6 like |
Synonyms |
4430402I18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL00535
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
28899836-28945289 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 28937073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025872]
[ENSMUST00000045674]
[ENSMUST00000160542]
[ENSMUST00000161813]
[ENSMUST00000162110]
[ENSMUST00000164777]
[ENSMUST00000175647]
|
AlphaFold |
B2RV46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025872
|
SMART Domains |
Protein: ENSMUSP00000025872 Gene: ENSMUSG00000064202
Domain | Start | End | E-Value | Type |
Pfam:SPATA6
|
1 |
91 |
1e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045674
|
SMART Domains |
Protein: ENSMUSP00000047776 Gene: ENSMUSG00000040105
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
34 |
N/A |
INTRINSIC |
low complexity region
|
69 |
84 |
N/A |
INTRINSIC |
acidPPc
|
161 |
273 |
7.73e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160542
|
SMART Domains |
Protein: ENSMUSP00000124396 Gene: ENSMUSG00000064202
Domain | Start | End | E-Value | Type |
Pfam:SPATA6
|
1 |
77 |
1e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162110
|
SMART Domains |
Protein: ENSMUSP00000123818 Gene: ENSMUSG00000064202
Domain | Start | End | E-Value | Type |
Pfam:SPATA6
|
7 |
145 |
7.7e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164777
|
SMART Domains |
Protein: ENSMUSP00000132800 Gene: ENSMUSG00000064202
Domain | Start | End | E-Value | Type |
Pfam:SPATA6
|
1 |
77 |
1e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175647
|
SMART Domains |
Protein: ENSMUSP00000135813 Gene: ENSMUSG00000064202
Domain | Start | End | E-Value | Type |
Pfam:SPATA6
|
6 |
78 |
4.5e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
T |
G |
17: 79,935,328 (GRCm39) |
|
probably benign |
Het |
Armc3 |
A |
G |
2: 19,308,669 (GRCm39) |
E767G |
possibly damaging |
Het |
Btaf1 |
A |
T |
19: 36,974,935 (GRCm39) |
D1403V |
probably damaging |
Het |
Chd2 |
C |
A |
7: 73,190,576 (GRCm39) |
M2I |
probably benign |
Het |
Cyp2r1 |
C |
A |
7: 114,151,061 (GRCm39) |
M419I |
probably benign |
Het |
Dnttip2 |
A |
T |
3: 122,078,148 (GRCm39) |
R727W |
probably damaging |
Het |
Gtf3c1 |
G |
T |
7: 125,243,325 (GRCm39) |
H1760N |
probably benign |
Het |
Iffo1 |
C |
T |
6: 125,137,516 (GRCm39) |
A532V |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,940,628 (GRCm39) |
D574G |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,503,172 (GRCm39) |
S671T |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Spam1 |
T |
A |
6: 24,796,722 (GRCm39) |
Y224* |
probably null |
Het |
Spata7 |
A |
C |
12: 98,635,099 (GRCm39) |
E345A |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,091,221 (GRCm39) |
|
probably benign |
Het |
Tex28 |
T |
C |
X: 73,204,647 (GRCm39) |
H215R |
probably damaging |
Het |
Tmigd3 |
A |
T |
3: 105,824,384 (GRCm39) |
R118* |
probably null |
Het |
Wnk4 |
T |
A |
11: 101,155,175 (GRCm39) |
M362K |
probably damaging |
Het |
|
Other mutations in Spata6l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01115:Spata6l
|
APN |
19 |
28,921,842 (GRCm39) |
splice site |
probably null |
|
IGL01520:Spata6l
|
APN |
19 |
28,873,532 (GRCm39) |
splice site |
probably null |
|
R1104:Spata6l
|
UTSW |
19 |
28,945,032 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1434:Spata6l
|
UTSW |
19 |
28,905,039 (GRCm39) |
splice site |
probably benign |
|
R1850:Spata6l
|
UTSW |
19 |
28,916,571 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1992:Spata6l
|
UTSW |
19 |
28,926,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4042:Spata6l
|
UTSW |
19 |
28,923,183 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4043:Spata6l
|
UTSW |
19 |
28,923,183 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4044:Spata6l
|
UTSW |
19 |
28,923,183 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4845:Spata6l
|
UTSW |
19 |
28,905,148 (GRCm39) |
missense |
probably benign |
|
R4911:Spata6l
|
UTSW |
19 |
28,874,903 (GRCm39) |
critical splice donor site |
probably benign |
|
R4933:Spata6l
|
UTSW |
19 |
28,919,175 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5213:Spata6l
|
UTSW |
19 |
28,940,964 (GRCm39) |
missense |
probably benign |
0.22 |
R5396:Spata6l
|
UTSW |
19 |
28,905,089 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6898:Spata6l
|
UTSW |
19 |
28,921,688 (GRCm39) |
missense |
probably benign |
0.01 |
R7530:Spata6l
|
UTSW |
19 |
28,926,121 (GRCm39) |
nonsense |
probably null |
|
R7883:Spata6l
|
UTSW |
19 |
28,906,013 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2012-04-20 |