Incidental Mutation 'IGL01115:Spata6l'
| ID |
53270 |
| 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: 0.113)
|
| Stock # |
IGL01115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
28899836-28945289 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4289 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 28921842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025872]
[ENSMUST00000160542]
[ENSMUST00000161813]
[ENSMUST00000162110]
[ENSMUST00000164777]
[ENSMUST00000175647]
|
| AlphaFold |
B2RV46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025872
AA Change: R109G
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202
AA Change: R109G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
1 |
91 |
1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160542
AA Change: R95G
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202
AA Change: R95G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
1 |
77 |
1e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162110
AA Change: R163G
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: R163G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
7 |
145 |
7.7e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164777
AA Change: R95G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202
AA Change: R95G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
| Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
| Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
| Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
| Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
| Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
| Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
| Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation