Incidental Mutation 'R5123:Spata6'
| ID |
393389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata6
|
| Ensembl Gene |
ENSMUSG00000034401 |
| Gene Name |
spermatogenesis associated 6 |
| Synonyms |
KRP, 1700062C23Rik, Hash |
| MMRRC Submission |
042711-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5123 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111577151-111686339 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111625992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 120
(H120Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038868]
[ENSMUST00000070513]
[ENSMUST00000084354]
[ENSMUST00000153746]
|
| AlphaFold |
Q3U6K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038868
AA Change: H120Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: H120Q
| 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: ENSMUST00000070513
|
| SMART Domains |
Protein: ENSMUSP00000069435
Gene: ENSMUSG00000034401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
10 |
93 |
5.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084354
AA Change: H120Q
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: H120Q
| 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: ENSMUST00000134000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140366
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153746
AA Change: H120Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114610
Gene: ENSMUSG00000034401
AA Change: H120Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
10 |
149 |
3e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156179
|
| Meta Mutation Damage Score |
0.0844 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (53/54) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
| Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
| Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
| Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,397 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
| Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Igsf5 |
A |
G |
16: 96,174,279 (GRCm39) |
D103G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
| Net1 |
C |
T |
13: 3,936,623 (GRCm39) |
R314H |
probably damaging |
Het |
| Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
| Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
| Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
| Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,224,262 (GRCm39) |
S290* |
probably null |
Het |
| Stk11 |
G |
A |
10: 79,963,775 (GRCm39) |
V194I |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,287,603 (GRCm39) |
V199A |
probably benign |
Het |
| Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
| Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
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 |
|
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'- GCATACAATAAGGCATCAGGC -3'
(R):5'- ATCAGCCAATAGGAGTTGTGTTAG -3'
Sequencing Primer
(F):5'- AGTGGGAGAAACACTGTC -3'
(R):5'- AGCCAATAGGAGTTGTGTTAGTTTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation