Incidental Mutation 'R6873:Spata13'
| ID |
536273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
044970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60929406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 321
(D321E)
|
| 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 benign
Transcript: ENSMUST00000022566
AA Change: D321E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: D321E
| 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: ENSMUST00000159169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159729
|
| 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: D321E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: D321E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
| Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
| Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
| Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
| C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
| Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
| Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
| Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
| Grap2 |
G |
A |
15: 80,527,874 (GRCm39) |
V107I |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
| Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
| Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,368,697 (GRCm39) |
Y533H |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
| Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
| Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
| Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
| Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
| Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,508,455 (GRCm39) |
I66T |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
| Ttc39b |
G |
C |
4: 83,164,513 (GRCm39) |
N266K |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,664,764 (GRCm39) |
D309E |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
|
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 |
|
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'- AGCAGCTTCTTCACAGACCC -3'
(R):5'- CATCATTTCCCAGTGGCTGAG -3'
Sequencing Primer
(F):5'- TTCTTCACAGACCCGGAGAAG -3'
(R):5'- CCCAGTGGCTGAGCACTTTTAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation