Incidental Mutation 'R8965:Spata6'
ID |
682666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata6
|
Ensembl Gene |
ENSMUSG00000034401 |
Gene Name |
spermatogenesis associated 6 |
Synonyms |
KRP, 1700062C23Rik, Hash |
MMRRC Submission |
068799-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8965 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
111577151-111686339 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 111680009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 422
(Y422*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038868]
[ENSMUST00000084354]
|
AlphaFold |
Q3U6K5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038868
AA Change: Y422*
|
SMART Domains |
Protein: ENSMUSP00000036964 Gene: ENSMUSG00000034401 AA Change: Y422*
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 null
Transcript: ENSMUST00000084354
AA Change: Y406*
|
SMART Domains |
Protein: ENSMUSP00000081383 Gene: ENSMUSG00000034401 AA Change: Y406*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,760,723 (GRCm39) |
I1260K |
probably benign |
Het |
Ace3 |
G |
T |
11: 105,896,175 (GRCm39) |
C707F |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,839,761 (GRCm39) |
H224R |
probably benign |
Het |
Atp1a2 |
T |
C |
1: 172,107,612 (GRCm39) |
D669G |
probably benign |
Het |
Cdk5rap2 |
A |
C |
4: 70,185,042 (GRCm39) |
V1136G |
probably benign |
Het |
Cntnap4 |
T |
A |
8: 113,479,646 (GRCm39) |
V277E |
probably damaging |
Het |
Cyp2d12 |
T |
C |
15: 82,443,186 (GRCm39) |
L416P |
possibly damaging |
Het |
Dnah17 |
T |
G |
11: 117,915,492 (GRCm39) |
T4376P |
probably damaging |
Het |
E4f1 |
C |
T |
17: 24,664,504 (GRCm39) |
V429M |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,531,738 (GRCm39) |
D419E |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,296,990 (GRCm39) |
E451G |
probably damaging |
Het |
Herpud1 |
T |
C |
8: 95,118,469 (GRCm39) |
Y181H |
probably damaging |
Het |
Igkv2-109 |
A |
T |
6: 68,280,112 (GRCm39) |
Y111F |
probably damaging |
Het |
Lztr1 |
T |
C |
16: 17,327,296 (GRCm39) |
|
probably null |
Het |
Myh13 |
A |
T |
11: 67,255,432 (GRCm39) |
M1601L |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Or10ag53 |
A |
T |
2: 87,082,901 (GRCm39) |
I207F |
possibly damaging |
Het |
Or2w2 |
T |
C |
13: 21,758,387 (GRCm39) |
T80A |
probably benign |
Het |
Or5p52 |
T |
C |
7: 107,502,314 (GRCm39) |
L130P |
probably damaging |
Het |
P2rx1 |
T |
C |
11: 72,900,051 (GRCm39) |
V156A |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,791,134 (GRCm39) |
N444S |
probably benign |
Het |
Patz1 |
T |
C |
11: 3,257,815 (GRCm39) |
Y559H |
probably damaging |
Het |
Pcna |
T |
C |
2: 132,094,769 (GRCm39) |
D63G |
possibly damaging |
Het |
Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
Peli1 |
T |
C |
11: 21,098,488 (GRCm39) |
Y408H |
probably damaging |
Het |
Psma5 |
T |
A |
3: 108,172,510 (GRCm39) |
|
probably null |
Het |
Ptpn11 |
G |
A |
5: 121,301,229 (GRCm39) |
T205M |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,999,851 (GRCm39) |
L453P |
probably damaging |
Het |
Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
Spaca6 |
A |
G |
17: 18,058,718 (GRCm39) |
T306A |
probably damaging |
Het |
Svop |
A |
G |
5: 114,173,271 (GRCm39) |
Y367H |
probably benign |
Het |
Trgv3 |
T |
A |
13: 19,427,180 (GRCm39) |
L21Q |
probably damaging |
Het |
Trim38 |
T |
C |
13: 23,975,006 (GRCm39) |
L315S |
possibly damaging |
Het |
Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
Usp20 |
T |
A |
2: 30,901,797 (GRCm39) |
Y521N |
possibly damaging |
Het |
Vcam1 |
T |
A |
3: 115,922,422 (GRCm39) |
K34* |
probably null |
Het |
Vwa1 |
A |
T |
4: 155,857,440 (GRCm39) |
Y119* |
probably null |
Het |
Vwa5b2 |
A |
G |
16: 20,415,076 (GRCm39) |
H366R |
possibly damaging |
Het |
Wac |
C |
A |
18: 7,905,936 (GRCm39) |
Q168K |
probably benign |
Het |
Wipf2 |
A |
G |
11: 98,783,497 (GRCm39) |
S308G |
probably benign |
Het |
Zbtb25 |
A |
C |
12: 76,396,577 (GRCm39) |
I215S |
probably benign |
Het |
Zfp677 |
T |
C |
17: 21,617,155 (GRCm39) |
S71P |
probably damaging |
Het |
|
Other mutations in Spata6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Spata6
|
APN |
4 |
111,663,125 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCAGTTGTCCAAGCACTTG -3'
(R):5'- CCTGAAACTACAGCTCTAGGGAGATC -3'
Sequencing Primer
(F):5'- CAGTTGTCCAAGCACTTGATTCAG -3'
(R):5'- TGTCTTCAAACTCCAAAGGCATCTG -3'
|
Posted On |
2021-10-11 |