Incidental Mutation 'R4042:Spata6l'
| ID |
315796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata6l
|
| Ensembl Gene |
ENSMUSG00000064202 |
| Gene Name |
spermatogenesis associated 6 like |
| Synonyms |
4430402I18Rik |
| MMRRC Submission |
040851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4042 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
28899836-28945289 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28923183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 80
(C80S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025872]
[ENSMUST00000160542]
[ENSMUST00000161813]
[ENSMUST00000162110]
[ENSMUST00000164777]
[ENSMUST00000175647]
|
| AlphaFold |
B2RV46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025872
AA Change: C94S
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202
AA Change: C94S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
1 |
91 |
1e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160542
AA Change: C80S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202
AA Change: C80S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
1 |
77 |
1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161813
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162110
AA Change: C148S
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: C148S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
7 |
145 |
7.7e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164777
AA Change: C80S
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202
AA Change: C80S
| 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 |
|
| Meta Mutation Damage Score |
0.1309 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
A |
G |
17: 33,768,514 (GRCm39) |
H864R |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,162 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
G |
6: 116,437,979 (GRCm39) |
S3P |
possibly damaging |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,091 (GRCm39) |
E85K |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,830,253 (GRCm39) |
I1014N |
probably damaging |
Het |
| Cog1 |
A |
T |
11: 113,551,836 (GRCm39) |
Q156L |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,014,678 (GRCm39) |
S909F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,477,480 (GRCm39) |
G3339D |
probably damaging |
Het |
| Cst11 |
A |
G |
2: 148,613,200 (GRCm39) |
S42P |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,290,269 (GRCm39) |
R67H |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,813,896 (GRCm39) |
R3405L |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,483,834 (GRCm39) |
V65A |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,721,134 (GRCm39) |
M1095K |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,118 (GRCm39) |
F187I |
probably damaging |
Het |
| Miga2 |
T |
C |
2: 30,257,738 (GRCm39) |
I12T |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,624 (GRCm39) |
Y3857H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,317,871 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5bb10 |
A |
T |
19: 12,206,676 (GRCm39) |
I83N |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,934,241 (GRCm39) |
D823G |
probably benign |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Prune2 |
T |
C |
19: 16,981,190 (GRCm39) |
|
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Homo |
| Rgl2 |
C |
T |
17: 34,156,236 (GRCm39) |
R775W |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,761,450 (GRCm39) |
Y162H |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,991,584 (GRCm39) |
M8377V |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,142,839 (GRCm39) |
I107L |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Ythdc1 |
T |
C |
5: 86,964,383 (GRCm39) |
I76T |
probably benign |
Het |
|
| Other mutations in Spata6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00535:Spata6l
|
APN |
19 |
28,937,073 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACAAACTACCCAGGTTATTG -3'
(R):5'- GGCCAAGAACTGCTGGTTTAG -3'
Sequencing Primer
(F):5'- ACTACCCAGGTTATTGTATGTTCAG -3'
(R):5'- CTACAGGACACTTGGGTT -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation