Incidental Mutation 'R5747:Spata13'
| ID |
445835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
043354-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5747 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60984952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 815
(D815E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000160973]
[ENSMUST00000162945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022566
AA Change: D815E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: D815E
| 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: ENSMUST00000160973
AA Change: D815E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: D815E
| 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 |
unknown
Transcript: ENSMUST00000162131
AA Change: D280E
|
| SMART Domains |
Protein: ENSMUSP00000124586
Gene: ENSMUSG00000021990
AA Change: D280E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162945
AA Change: D145E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: D145E
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
72 |
127 |
4.92e-16 |
SMART |
|
RhoGEF
|
166 |
345 |
1.22e-58 |
SMART |
|
PH
|
378 |
485 |
1.16e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
T |
1: 25,865,643 (GRCm39) |
Y67N |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,564,352 (GRCm39) |
T12A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,466,836 (GRCm39) |
V1620A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,735,400 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,611,814 (GRCm39) |
V176M |
possibly damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,625,735 (GRCm39) |
D190N |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,416 (GRCm39) |
L93P |
probably damaging |
Het |
| Crebl2 |
C |
T |
6: 134,828,103 (GRCm39) |
L92F |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,521,862 (GRCm39) |
|
probably null |
Het |
| Echs1 |
T |
C |
7: 139,691,725 (GRCm39) |
|
probably benign |
Het |
| Eif1ad16 |
C |
T |
12: 87,985,366 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,520 (GRCm39) |
I163T |
probably damaging |
Het |
| Fdft1 |
A |
G |
14: 63,384,288 (GRCm39) |
S388P |
probably damaging |
Het |
| Gbx2 |
A |
G |
1: 89,856,437 (GRCm39) |
S318P |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,323,319 (GRCm39) |
T165S |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5093 |
T |
G |
17: 46,750,916 (GRCm39) |
E37A |
possibly damaging |
Het |
| Gm527 |
A |
T |
12: 64,967,620 (GRCm39) |
N14I |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,827,235 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,399,870 (GRCm39) |
T287A |
probably benign |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,273 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Igkv8-28 |
T |
C |
6: 70,121,141 (GRCm39) |
E2G |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,209,576 (GRCm39) |
Y318* |
probably null |
Het |
| Kcnh5 |
T |
C |
12: 74,945,194 (GRCm39) |
E685G |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 58,001,183 (GRCm39) |
|
probably benign |
Het |
| Ldhal6b |
A |
C |
17: 5,468,094 (GRCm39) |
V280G |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,703 (GRCm39) |
T182A |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,464,038 (GRCm39) |
D272G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,904 (GRCm39) |
T76A |
probably benign |
Het |
| Map3k3 |
A |
G |
11: 106,041,236 (GRCm39) |
T402A |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,737 (GRCm39) |
M68V |
probably damaging |
Het |
| Or1j15 |
A |
T |
2: 36,458,979 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,541 (GRCm39) |
E289G |
probably benign |
Het |
| Rnf17 |
T |
C |
14: 56,703,276 (GRCm39) |
|
probably null |
Het |
| Rp9 |
A |
G |
9: 22,359,960 (GRCm39) |
|
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,927,634 (GRCm39) |
Q92R |
probably benign |
Het |
| Sema6d |
C |
T |
2: 124,506,867 (GRCm39) |
P879S |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,658 (GRCm39) |
M114K |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,011 (GRCm39) |
Y521N |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,901,337 (GRCm39) |
N24I |
probably damaging |
Het |
| Spocd1 |
A |
G |
4: 129,848,738 (GRCm39) |
D656G |
probably damaging |
Het |
| Susd1 |
T |
A |
4: 59,424,108 (GRCm39) |
N39I |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,853 (GRCm39) |
T417I |
probably benign |
Het |
| Wdr31 |
C |
T |
4: 62,381,637 (GRCm39) |
V65I |
probably damaging |
Het |
| Zfp783 |
T |
C |
6: 47,925,829 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- CATGAACACATATTGAGGGCGC -3'
(R):5'- GCAATCACCCAGCATCTTGC -3'
Sequencing Primer
(F):5'- CTGTGGTTTTATAACTCGGCACAGAG -3'
(R):5'- AGCATCTTGCCGGAGAATC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation