Incidental Mutation 'R6573:Spata6'
| ID |
523306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata6
|
| Ensembl Gene |
ENSMUSG00000034401 |
| Gene Name |
spermatogenesis associated 6 |
| Synonyms |
KRP, 1700062C23Rik, Hash |
| MMRRC Submission |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111577151-111686339 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111636476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 256
(F256I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038868]
[ENSMUST00000084354]
[ENSMUST00000153746]
|
| AlphaFold |
Q3U6K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038868
AA Change: F256I
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: F256I
| 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 damaging
Transcript: ENSMUST00000084354
AA Change: F256I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: F256I
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156179
|
| Meta Mutation Damage Score |
0.0799 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
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 |
|
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'- AAGTCCAAGTCACCCGAGAG -3'
(R):5'- TCCCTCAGCATTAAAGGCATAAAGG -3'
Sequencing Primer
(F):5'- AGAGGAGTAAATATTGCATAAACACC -3'
(R):5'- AGCATATTCATTGGGTTTATGCTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation