Incidental Mutation 'R8073:Spata13'
| ID |
620369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8073 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60928705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 88
(N88D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000159169]
[ENSMUST00000159729]
[ENSMUST00000160973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022566
AA Change: N88D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: N88D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
623 |
N/A |
INTRINSIC |
|
SH3
|
742 |
797 |
4.92e-16 |
SMART |
|
RhoGEF
|
836 |
1015 |
1.22e-58 |
SMART |
|
PH
|
1048 |
1155 |
1.16e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159169
AA Change: N88D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159729
AA Change: N88D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160095
|
| SMART Domains |
Protein: ENSMUSP00000123744
Gene: ENSMUSG00000021990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160973
AA Change: N88D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: N88D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
623 |
N/A |
INTRINSIC |
|
SH3
|
742 |
797 |
4.92e-16 |
SMART |
|
RhoGEF
|
836 |
1015 |
1.22e-58 |
SMART |
|
PH
|
1048 |
1155 |
1.16e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal but show a significant reduction in the number and size of intestinal adenomas in conjunction with ApcMin heterozygotes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
C |
T |
4: 126,337,019 (GRCm39) |
V533I |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,842,736 (GRCm39) |
T452S |
probably damaging |
Het |
| Angpt1 |
C |
T |
15: 42,301,699 (GRCm39) |
M436I |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,797 (GRCm39) |
K147R |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,910,080 (GRCm39) |
T1491K |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,394,881 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,764,675 (GRCm39) |
F124L |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,163,281 (GRCm39) |
Y436C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,823,356 (GRCm39) |
N1684S |
probably benign |
Het |
| Cflar |
T |
C |
1: 58,791,981 (GRCm39) |
L428P |
|
Het |
| Clk4 |
T |
C |
11: 51,168,716 (GRCm39) |
I363T |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,434,002 (GRCm39) |
T273A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,852,141 (GRCm39) |
A546V |
possibly damaging |
Het |
| Col6a6 |
T |
A |
9: 105,659,146 (GRCm39) |
N600Y |
probably benign |
Het |
| Cxadr |
A |
G |
16: 78,130,301 (GRCm39) |
N156S |
probably benign |
Het |
| Diaph1 |
C |
T |
18: 38,024,850 (GRCm39) |
G537E |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,011,500 (GRCm39) |
V1219D |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,726,001 (GRCm39) |
Y95* |
probably null |
Het |
| Dnajc5g |
A |
G |
5: 31,269,029 (GRCm39) |
T137A |
probably benign |
Het |
| Dpy19l3 |
G |
A |
7: 35,429,173 (GRCm39) |
T89M |
probably damaging |
Het |
| Dusp19 |
C |
A |
2: 80,447,828 (GRCm39) |
T34N |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,555,142 (GRCm39) |
V68A |
possibly damaging |
Het |
| Epha7 |
T |
A |
4: 28,821,022 (GRCm39) |
D62E |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,283,674 (GRCm39) |
V445E |
probably benign |
Het |
| Gp9 |
A |
C |
6: 87,756,336 (GRCm39) |
D117A |
probably benign |
Het |
| Haao |
T |
C |
17: 84,142,649 (GRCm39) |
E152G |
possibly damaging |
Het |
| Ift70a2 |
A |
G |
2: 75,806,997 (GRCm39) |
V505A |
probably damaging |
Het |
| Ighd |
A |
G |
12: 113,379,789 (GRCm39) |
S52P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,358,255 (GRCm39) |
K361E |
probably benign |
Het |
| Lgi2 |
T |
A |
5: 52,704,013 (GRCm39) |
E206V |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,754,749 (GRCm39) |
V220E |
probably benign |
Het |
| Moxd1 |
G |
T |
10: 24,128,848 (GRCm39) |
G200C |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,923,417 (GRCm39) |
Q55K |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,260,260 (GRCm39) |
L672M |
probably damaging |
Het |
| Npvf |
A |
C |
6: 50,631,349 (GRCm39) |
F9V |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,179,104 (GRCm39) |
|
probably null |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,026,516 (GRCm39) |
R229H |
probably benign |
Het |
| Olfml2a |
C |
A |
2: 38,847,766 (GRCm39) |
R442S |
probably damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,552 (GRCm39) |
D270G |
probably benign |
Het |
| Or2ag16 |
C |
A |
7: 106,352,008 (GRCm39) |
E196* |
probably null |
Het |
| Or4c120 |
T |
A |
2: 89,001,284 (GRCm39) |
I91F |
probably damaging |
Het |
| Or5b12b |
T |
A |
19: 12,861,980 (GRCm39) |
V245E |
probably benign |
Het |
| Or9s13 |
T |
A |
1: 92,547,806 (GRCm39) |
D59E |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,398 (GRCm39) |
F135S |
probably damaging |
Het |
| Pde4a |
A |
T |
9: 21,122,065 (GRCm39) |
I654F |
probably damaging |
Het |
| Pip5kl1 |
G |
A |
2: 32,473,440 (GRCm39) |
R359Q |
possibly damaging |
Het |
| Ppp2ca |
T |
C |
11: 52,010,124 (GRCm39) |
V244A |
possibly damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,627 (GRCm39) |
L384H |
possibly damaging |
Het |
| Rab4a |
T |
C |
8: 124,554,135 (GRCm39) |
V62A |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,513,261 (GRCm39) |
L217P |
probably damaging |
Het |
| Rhebl1 |
C |
T |
15: 98,776,405 (GRCm39) |
A131T |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,590,546 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
A |
2: 158,456,685 (GRCm39) |
A447T |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,803 (GRCm39) |
M45K |
probably benign |
Het |
| Spred2 |
C |
A |
11: 19,958,422 (GRCm39) |
T128N |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,030,471 (GRCm39) |
E776G |
possibly damaging |
Het |
| Tet1 |
C |
G |
10: 62,649,132 (GRCm39) |
E156Q |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,845,725 (GRCm39) |
N166S |
probably benign |
Het |
| Trim43a |
C |
A |
9: 88,464,490 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,607,305 (GRCm39) |
M543L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,574,181 (GRCm39) |
K25571E |
probably damaging |
Het |
| Vamp5 |
C |
A |
6: 72,357,436 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,462 (GRCm39) |
Q287L |
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,062,682 (GRCm39) |
V517E |
unknown |
Het |
| Zfp467 |
A |
T |
6: 48,414,959 (GRCm39) |
H564Q |
probably damaging |
Het |
| Zfp51 |
G |
A |
17: 21,684,294 (GRCm39) |
C303Y |
probably damaging |
Het |
|
| Other mutations in Spata13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02364:Spata13
|
APN |
14 |
60,928,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Spata13
|
APN |
14 |
60,944,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03189:Spata13
|
APN |
14 |
60,929,063 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03235:Spata13
|
APN |
14 |
60,989,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Spata13
|
UTSW |
14 |
60,987,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Spata13
|
UTSW |
14 |
60,929,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0316:Spata13
|
UTSW |
14 |
60,929,788 (GRCm39) |
missense |
probably benign |
|
|
R0458:Spata13
|
UTSW |
14 |
60,929,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1546:Spata13
|
UTSW |
14 |
60,993,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Spata13
|
UTSW |
14 |
60,929,174 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1791:Spata13
|
UTSW |
14 |
60,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Spata13
|
UTSW |
14 |
60,928,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2059:Spata13
|
UTSW |
14 |
60,997,040 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2063:Spata13
|
UTSW |
14 |
60,998,320 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2068:Spata13
|
UTSW |
14 |
60,998,320 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2212:Spata13
|
UTSW |
14 |
60,944,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2327:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3414:Spata13
|
UTSW |
14 |
60,944,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4115:Spata13
|
UTSW |
14 |
60,929,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Spata13
|
UTSW |
14 |
60,993,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Spata13
|
UTSW |
14 |
60,928,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4293:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4294:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4295:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4779:Spata13
|
UTSW |
14 |
60,991,356 (GRCm39) |
nonsense |
probably null |
|
|
R4780:Spata13
|
UTSW |
14 |
60,991,356 (GRCm39) |
nonsense |
probably null |
|
|
R4838:Spata13
|
UTSW |
14 |
60,970,628 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4997:Spata13
|
UTSW |
14 |
60,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Spata13
|
UTSW |
14 |
60,987,538 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5399:Spata13
|
UTSW |
14 |
60,984,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5685:Spata13
|
UTSW |
14 |
60,928,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5708:Spata13
|
UTSW |
14 |
60,929,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Spata13
|
UTSW |
14 |
60,984,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Spata13
|
UTSW |
14 |
60,987,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Spata13
|
UTSW |
14 |
60,993,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6233:Spata13
|
UTSW |
14 |
60,929,456 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6782:Spata13
|
UTSW |
14 |
60,928,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6873:Spata13
|
UTSW |
14 |
60,929,406 (GRCm39) |
missense |
probably benign |
|
|
R6958:Spata13
|
UTSW |
14 |
60,989,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7105:Spata13
|
UTSW |
14 |
60,991,319 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7286:Spata13
|
UTSW |
14 |
60,993,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Spata13
|
UTSW |
14 |
60,989,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Spata13
|
UTSW |
14 |
60,989,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Spata13
|
UTSW |
14 |
60,929,956 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7743:Spata13
|
UTSW |
14 |
60,993,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7795:Spata13
|
UTSW |
14 |
60,929,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7959:Spata13
|
UTSW |
14 |
60,993,679 (GRCm39) |
nonsense |
probably null |
|
|
R8304:Spata13
|
UTSW |
14 |
60,993,957 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8791:Spata13
|
UTSW |
14 |
60,929,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Spata13
|
UTSW |
14 |
60,994,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Spata13
|
UTSW |
14 |
60,987,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Spata13
|
UTSW |
14 |
60,993,896 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9513:Spata13
|
UTSW |
14 |
60,929,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9548:Spata13
|
UTSW |
14 |
60,991,303 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9624:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9625:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9626:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9686:Spata13
|
UTSW |
14 |
60,989,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Spata13
|
UTSW |
14 |
60,928,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9747:Spata13
|
UTSW |
14 |
60,929,240 (GRCm39) |
missense |
probably benign |
|
|
R9774:Spata13
|
UTSW |
14 |
60,944,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCTTGGAGATGAAGGTC -3'
(R):5'- AAGGATGTACACCTGCCCAG -3'
Sequencing Primer
(F):5'- GTGACATCCTCAGCATGTCAGAATG -3'
(R):5'- CCAGGCCCTTTCCCAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation