Incidental Mutation 'R9626:Spata13'
| ID |
725172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9626 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60944349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 581
(P581S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000160973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022566
AA Change: P581S
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: P581S
| 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 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 benign
Transcript: ENSMUST00000160973
AA Change: P581S
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: P581S
| 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 benign
Transcript: ENSMUST00000162131
AA Change: P56S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124586
Gene: ENSMUSG00000021990
AA Change: P56S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
SH3
|
208 |
263 |
4.92e-16 |
SMART |
|
Blast:RhoGEF
|
302 |
340 |
7e-19 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,127,502 (GRCm39) |
N37I |
unknown |
Het |
| Abca9 |
T |
A |
11: 110,011,606 (GRCm39) |
T1146S |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,380,179 (GRCm39) |
H400Y |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,275,721 (GRCm39) |
S768P |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,878 (GRCm39) |
H47L |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,796 (GRCm39) |
N712I |
possibly damaging |
Het |
| Bri3bp |
T |
A |
5: 125,531,572 (GRCm39) |
S173T |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,168,287 (GRCm39) |
S254R |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,247,294 (GRCm39) |
E285G |
probably benign |
Het |
| Celf2 |
G |
A |
2: 6,590,835 (GRCm39) |
A320V |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,726,521 (GRCm39) |
I3250T |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
| Cntrob |
T |
C |
11: 69,202,167 (GRCm39) |
H475R |
possibly damaging |
Het |
| Dcaf6 |
G |
A |
1: 165,227,264 (GRCm39) |
R288* |
probably null |
Het |
| Ebna1bp2 |
G |
A |
4: 118,478,371 (GRCm39) |
|
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,444,730 (GRCm39) |
D302V |
probably benign |
Het |
| Fbxo48 |
T |
A |
11: 16,904,333 (GRCm39) |
*162K |
probably null |
Het |
| Fyttd1 |
T |
C |
16: 32,725,915 (GRCm39) |
L290S |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,418,917 (GRCm39) |
D472G |
probably damaging |
Het |
| Gjb4 |
C |
T |
4: 127,246,081 (GRCm39) |
|
probably benign |
Het |
| Gm5157 |
G |
T |
7: 20,919,396 (GRCm39) |
T49K |
probably damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
G |
T |
17: 33,896,264 (GRCm39) |
D88E |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Hunk |
C |
T |
16: 90,272,791 (GRCm39) |
T365M |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,354,669 (GRCm39) |
D972G |
probably benign |
Het |
| Mamdc4 |
A |
G |
2: 25,458,273 (GRCm39) |
L379P |
probably damaging |
Het |
| Mcrs1 |
A |
G |
15: 99,146,353 (GRCm39) |
L179P |
probably damaging |
Het |
| Mterf2 |
C |
T |
10: 84,956,295 (GRCm39) |
A110T |
probably benign |
Het |
| Mucl1 |
A |
G |
15: 103,783,934 (GRCm39) |
S91P |
possibly damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Ndst4 |
A |
C |
3: 125,476,829 (GRCm39) |
D18A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,058,064 (GRCm39) |
C382* |
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,177,854 (GRCm39) |
K519E |
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,166,991 (GRCm39) |
K747E |
probably benign |
Het |
| Nubp2 |
C |
G |
17: 25,103,374 (GRCm39) |
|
probably null |
Het |
| Odad2 |
G |
T |
18: 7,211,422 (GRCm39) |
C817* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,903,236 (GRCm39) |
V208A |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,878,600 (GRCm39) |
D181E |
possibly damaging |
Het |
| Or7a36 |
T |
G |
10: 78,820,213 (GRCm39) |
D196E |
probably benign |
Het |
| Or7a40 |
A |
G |
16: 16,491,491 (GRCm39) |
M118T |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,977 (GRCm39) |
T135A |
probably benign |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,555 (GRCm39) |
L845R |
probably damaging |
Het |
| Pcdhb14 |
A |
C |
18: 37,581,787 (GRCm39) |
T298P |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,592,547 (GRCm39) |
L957Q |
possibly damaging |
Het |
| Pole |
A |
G |
5: 110,459,959 (GRCm39) |
D1121G |
possibly damaging |
Het |
| Ppp1r3g |
C |
A |
13: 36,153,612 (GRCm39) |
T344K |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,681 (GRCm39) |
K954R |
possibly damaging |
Het |
| Prr15l |
C |
A |
11: 96,825,440 (GRCm39) |
Y23* |
probably null |
Het |
| Sap18b |
A |
G |
8: 96,552,098 (GRCm39) |
E36G |
possibly damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,914,241 (GRCm39) |
F227L |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,550,930 (GRCm39) |
K506N |
|
Het |
| Ssc5d |
C |
A |
7: 4,946,568 (GRCm39) |
T974K |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,545,345 (GRCm39) |
R2491S |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,579 (GRCm39) |
E697G |
unknown |
Het |
| Tmem44 |
A |
T |
16: 30,366,226 (GRCm39) |
F67I |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,278,570 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ttc9 |
A |
G |
12: 81,710,301 (GRCm39) |
I198V |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,550 (GRCm39) |
V11942M |
unknown |
Het |
| Uqcrc2 |
T |
A |
7: 120,237,118 (GRCm39) |
Y55* |
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,273 (GRCm39) |
M209L |
probably benign |
Het |
| Vmn2r50 |
A |
T |
7: 9,771,960 (GRCm39) |
C580* |
probably null |
Het |
| Vmn2r96 |
A |
G |
17: 18,793,758 (GRCm39) |
E34G |
probably benign |
Het |
| Zmynd8 |
C |
T |
2: 165,654,268 (GRCm39) |
|
probably null |
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 |
|
|
R8073:Spata13
|
UTSW |
14 |
60,928,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGCCTGTTCATTTGCAAAGGTC -3'
(R):5'- GAAACCAGCTCTTACTTGGACC -3'
Sequencing Primer
(F):5'- CATTTGCAAAGGTCCTGGTGAC -3'
(R):5'- CAGCTCTTACTTGGACCAAGAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation