Incidental Mutation 'IGL00944:Spata6'
| ID |
27281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata6
|
| Ensembl Gene |
ENSMUSG00000034401 |
| Gene Name |
spermatogenesis associated 6 |
| Synonyms |
KRP, 1700062C23Rik, Hash |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111577151-111686339 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 111663125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038868]
[ENSMUST00000084354]
|
| AlphaFold |
Q3U6K5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038868
|
| SMART Domains |
Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
11 |
149 |
3.4e-56 |
PFAM |
|
low complexity region
|
182 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084354
|
| SMART Domains |
Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
10 |
149 |
1.9e-57 |
PFAM |
|
low complexity region
|
182 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149834
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal formation of the sperm connecting piece during late spermiogenesis, leading to acephalic spermatozoa and male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
| Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
| Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
| Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
| Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
| Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
| Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
| Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
| Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
| Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
| Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
| Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
| Other mutations in Spata6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Spata6
|
APN |
4 |
111,642,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03181:Spata6
|
APN |
4 |
111,679,963 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4378001:Spata6
|
UTSW |
4 |
111,603,378 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0043:Spata6
|
UTSW |
4 |
111,638,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1199:Spata6
|
UTSW |
4 |
111,656,342 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1491:Spata6
|
UTSW |
4 |
111,603,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1548:Spata6
|
UTSW |
4 |
111,636,203 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1582:Spata6
|
UTSW |
4 |
111,637,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1582:Spata6
|
UTSW |
4 |
111,637,992 (GRCm39) |
nonsense |
probably null |
|
|
R4690:Spata6
|
UTSW |
4 |
111,632,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Spata6
|
UTSW |
4 |
111,625,992 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5360:Spata6
|
UTSW |
4 |
111,680,026 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5373:Spata6
|
UTSW |
4 |
111,680,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5396:Spata6
|
UTSW |
4 |
111,656,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Spata6
|
UTSW |
4 |
111,636,405 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6017:Spata6
|
UTSW |
4 |
111,632,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Spata6
|
UTSW |
4 |
111,632,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Spata6
|
UTSW |
4 |
111,636,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Spata6
|
UTSW |
4 |
111,642,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7341:Spata6
|
UTSW |
4 |
111,625,935 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Spata6
|
UTSW |
4 |
111,638,017 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8116:Spata6
|
UTSW |
4 |
111,685,517 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8745:Spata6
|
UTSW |
4 |
111,636,476 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8965:Spata6
|
UTSW |
4 |
111,680,009 (GRCm39) |
nonsense |
probably null |
|
|
R9342:Spata6
|
UTSW |
4 |
111,636,389 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9400:Spata6
|
UTSW |
4 |
111,577,428 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9539:Spata6
|
UTSW |
4 |
111,685,526 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
RF002:Spata6
|
UTSW |
4 |
111,685,502 (GRCm39) |
missense |
probably benign |
|
|
X0066:Spata6
|
UTSW |
4 |
111,685,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation