Incidental Mutation 'R1582:Spata6'
ID |
171460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata6
|
Ensembl Gene |
ENSMUSG00000034401 |
Gene Name |
spermatogenesis associated 6 |
Synonyms |
KRP, 1700062C23Rik, Hash |
MMRRC Submission |
039619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1582 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
111577151-111686339 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111637994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 275
(P275S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038868]
[ENSMUST00000084354]
[ENSMUST00000153746]
|
AlphaFold |
Q3U6K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038868
AA Change: P275S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036964 Gene: ENSMUSG00000034401 AA Change: P275S
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
AA Change: P275S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081383 Gene: ENSMUSG00000034401 AA Change: P275S
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: ENSMUST00000122820
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156179
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153746
|
SMART Domains |
Protein: ENSMUSP00000114610 Gene: ENSMUSG00000034401
Domain | Start | End | E-Value | Type |
Pfam:SPATA6
|
10 |
149 |
3e-58 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.6%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
C |
G |
2: 31,690,371 (GRCm39) |
A630G |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,333,662 (GRCm39) |
Y202H |
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,494,264 (GRCm39) |
T138A |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,855,638 (GRCm39) |
S188P |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,982,291 (GRCm39) |
T3821A |
unknown |
Het |
Dcun1d2 |
A |
G |
8: 13,330,926 (GRCm39) |
L68P |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,842,566 (GRCm39) |
L630I |
probably damaging |
Het |
Ddx25 |
T |
C |
9: 35,457,272 (GRCm39) |
T348A |
probably damaging |
Het |
Dtnb |
C |
T |
12: 3,823,554 (GRCm39) |
T580M |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,074,749 (GRCm39) |
S561G |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,771,995 (GRCm39) |
I101T |
possibly damaging |
Het |
Erich3 |
T |
C |
3: 154,469,960 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,068,398 (GRCm39) |
T611A |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,573,066 (GRCm39) |
|
probably null |
Het |
H2-Oa |
A |
T |
17: 34,313,695 (GRCm39) |
T218S |
probably damaging |
Het |
Kctd19 |
G |
A |
8: 106,122,092 (GRCm39) |
L152F |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,552,591 (GRCm39) |
M1189K |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,947,398 (GRCm39) |
V862A |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,299 (GRCm39) |
T1065A |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,621,744 (GRCm39) |
A697T |
probably benign |
Het |
Mosmo |
A |
G |
7: 120,329,728 (GRCm39) |
I116M |
possibly damaging |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,567,817 (GRCm39) |
M321L |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,572,892 (GRCm39) |
N670K |
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,090 (GRCm39) |
C172S |
probably damaging |
Het |
Or5e1 |
G |
T |
7: 108,354,317 (GRCm39) |
V85L |
probably benign |
Het |
Or6z3 |
A |
G |
7: 6,463,813 (GRCm39) |
M102V |
probably benign |
Het |
Ppara |
T |
C |
15: 85,682,429 (GRCm39) |
I375T |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,263,877 (GRCm39) |
I188V |
probably benign |
Het |
Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
Relt |
C |
T |
7: 100,500,560 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
Smarca2 |
G |
A |
19: 26,729,305 (GRCm39) |
D19N |
probably damaging |
Het |
Sorbs2 |
G |
A |
8: 46,258,814 (GRCm39) |
G620D |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,181,038 (GRCm39) |
Q46K |
probably benign |
Het |
Tas2r108 |
T |
A |
6: 40,470,566 (GRCm39) |
V14D |
probably benign |
Het |
Thbs2 |
G |
T |
17: 14,891,550 (GRCm39) |
P996T |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,839,090 (GRCm39) |
Q620R |
probably damaging |
Het |
Ubap2l |
A |
G |
3: 89,941,978 (GRCm39) |
S203P |
probably damaging |
Het |
Unc45b |
G |
A |
11: 82,816,771 (GRCm39) |
G404S |
probably benign |
Het |
Uri1 |
A |
G |
7: 37,664,811 (GRCm39) |
S292P |
possibly damaging |
Het |
Usp21 |
A |
T |
1: 171,110,655 (GRCm39) |
C444S |
probably damaging |
Het |
Vmn1r117 |
A |
T |
7: 20,617,484 (GRCm39) |
V188D |
possibly damaging |
Het |
Vmn1r7 |
T |
C |
6: 57,002,143 (GRCm39) |
D39G |
probably damaging |
Het |
Wdr25 |
T |
C |
12: 108,863,980 (GRCm39) |
F42L |
possibly 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 |
111,637,992 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGCACTGTGGAATTCACCTGC -3'
(R):5'- AGACCCTAGCTCCAGGCAATTAGC -3'
Sequencing Primer
(F):5'- TGGAATTCACCTGCTGTGTG -3'
(R):5'- cccctctctctctctctctg -3'
|
Posted On |
2014-04-13 |