Incidental Mutation 'R9625:Spata13'
| ID |
725112 |
| 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 # |
R9625 (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: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
G |
3: 121,465,033 (GRCm39) |
E23G |
unknown |
Het |
| Abhd5 |
A |
G |
9: 122,208,606 (GRCm39) |
Y332C |
probably damaging |
Het |
| Adcyap1r1 |
A |
T |
6: 55,457,055 (GRCm39) |
E262V |
probably damaging |
Het |
| Adgre5 |
A |
G |
8: 84,450,658 (GRCm39) |
Y793H |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,654,707 (GRCm39) |
Y78F |
possibly damaging |
Het |
| Asl |
G |
A |
5: 130,047,693 (GRCm39) |
A91V |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,905,061 (GRCm39) |
I126F |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,476,705 (GRCm39) |
E2G |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
| Cntnap3 |
A |
T |
13: 65,006,579 (GRCm39) |
S78T |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,602,181 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,947,874 (GRCm39) |
S198P |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,794 (GRCm39) |
|
probably null |
Het |
| Dhx16 |
A |
G |
17: 36,193,413 (GRCm39) |
E252G |
probably benign |
Het |
| Efcab2 |
C |
T |
1: 178,302,505 (GRCm39) |
T83I |
possibly damaging |
Het |
| Efhc1 |
A |
G |
1: 21,049,738 (GRCm39) |
N533D |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,581,112 (GRCm39) |
V538A |
probably benign |
Het |
| Fam171b |
A |
T |
2: 83,683,914 (GRCm39) |
T144S |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,474 (GRCm39) |
F424S |
unknown |
Het |
| Gm3573 |
T |
C |
14: 42,011,605 (GRCm39) |
R42G |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
G |
A |
17: 34,218,975 (GRCm39) |
P23S |
probably benign |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Hoxb1 |
C |
T |
11: 96,256,810 (GRCm39) |
A53V |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,197 (GRCm39) |
|
probably null |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kif1a |
C |
T |
1: 93,000,766 (GRCm39) |
E287K |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,909,666 (GRCm39) |
*2015K |
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,486,157 (GRCm39) |
G61C |
probably damaging |
Het |
| Mthfd2l |
A |
G |
5: 91,107,567 (GRCm39) |
H143R |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,345,643 (GRCm39) |
Q568L |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,130 (GRCm39) |
S824N |
probably benign |
Het |
| Nfe2l3 |
A |
T |
6: 51,434,925 (GRCm39) |
D495V |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,782,169 (GRCm39) |
I455M |
probably benign |
Het |
| Npb |
T |
C |
11: 120,499,375 (GRCm39) |
L14P |
probably damaging |
Het |
| Or51f1 |
C |
T |
7: 102,505,636 (GRCm39) |
M284I |
probably benign |
Het |
| P2ry12 |
G |
A |
3: 59,125,496 (GRCm39) |
R60C |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,419 (GRCm39) |
L403* |
probably null |
Het |
| Phb2 |
G |
A |
6: 124,690,974 (GRCm39) |
R44H |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,372,253 (GRCm39) |
T68S |
probably benign |
Het |
| Ptprg |
C |
T |
14: 12,152,027 (GRCm38) |
R447W |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,462,006 (GRCm39) |
Y1190H |
probably damaging |
Het |
| Ptpro |
G |
T |
6: 137,371,873 (GRCm39) |
C630F |
probably damaging |
Het |
| Rrp15 |
G |
T |
1: 186,453,718 (GRCm39) |
P243Q |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,830,920 (GRCm39) |
F285S |
possibly damaging |
Het |
| Tex44 |
T |
C |
1: 86,354,253 (GRCm39) |
I54T |
unknown |
Het |
| Tom1l2 |
A |
G |
11: 60,161,277 (GRCm39) |
V78A |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,265,738 (GRCm39) |
W514R |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,254,445 (GRCm39) |
V357L |
probably benign |
Het |
| Zfp970 |
C |
T |
2: 177,167,790 (GRCm39) |
Q455* |
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 |
|
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'- TCAGCCTGTTCATTTGCAAAG -3'
(R):5'- AACCAGCTCTTACTTGGACC -3'
Sequencing Primer
(F):5'- CATTTGCAAAGGTCCTGGTGAC -3'
(R):5'- CAGCTCTTACTTGGACCAAGAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation