Incidental Mutation 'R0316:Spata13'
| ID |
34216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
038526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60929788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 449
(T449A)
|
| 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: T449A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: T449A
| 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 |
noncoding transcript
Transcript: ENSMUST00000159135
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159729
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160095
AA Change: T122A
|
| SMART Domains |
Protein: ENSMUSP00000123744
Gene: ENSMUSG00000021990
AA Change: T122A
| 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: T449A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: T449A
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,888,765 (GRCm39) |
F276I |
probably damaging |
Het |
| Ado |
A |
G |
10: 67,384,548 (GRCm39) |
L19P |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 73,002,725 (GRCm39) |
H169R |
probably damaging |
Het |
| Asic1 |
G |
A |
15: 99,569,819 (GRCm39) |
A47T |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,942,603 (GRCm39) |
I364N |
probably damaging |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,313 (GRCm39) |
R122Q |
probably damaging |
Het |
| Capn7 |
T |
A |
14: 31,069,766 (GRCm39) |
C197S |
probably benign |
Het |
| Casp16 |
T |
C |
17: 23,771,066 (GRCm39) |
D113G |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,366,999 (GRCm39) |
V235D |
probably damaging |
Het |
| Clca4a |
G |
T |
3: 144,659,525 (GRCm39) |
T777K |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,673,972 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,686,621 (GRCm39) |
D1335Y |
unknown |
Het |
| Cpxm1 |
T |
C |
2: 130,235,091 (GRCm39) |
E576G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,253,808 (GRCm39) |
S182P |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,410,313 (GRCm39) |
S616L |
probably damaging |
Het |
| Dll4 |
C |
A |
2: 119,161,634 (GRCm39) |
D405E |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,000,108 (GRCm39) |
R2462C |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,564,882 (GRCm39) |
Y2594N |
possibly damaging |
Het |
| Ess2 |
G |
A |
16: 17,727,958 (GRCm39) |
P103S |
probably benign |
Het |
| Fam110a |
C |
A |
2: 151,812,006 (GRCm39) |
A255S |
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,246,397 (GRCm39) |
R502W |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,969,923 (GRCm39) |
S342P |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,634,564 (GRCm39) |
|
probably benign |
Het |
| Gm5901 |
A |
T |
7: 105,026,522 (GRCm39) |
T97S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,420 (GRCm39) |
Y1546C |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,249,347 (GRCm39) |
S619T |
probably damaging |
Het |
| Itih2 |
C |
A |
2: 10,110,057 (GRCm39) |
Q565H |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,652,934 (GRCm39) |
M218T |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,094,012 (GRCm39) |
S12G |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,505 (GRCm39) |
P571T |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,085,482 (GRCm39) |
Y1538D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,361,584 (GRCm39) |
I184T |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,766 (GRCm39) |
C139S |
probably damaging |
Het |
| Or5w18 |
T |
C |
2: 87,633,525 (GRCm39) |
F264S |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,185,149 (GRCm39) |
|
silent |
Het |
| Pdcd11 |
T |
C |
19: 47,101,611 (GRCm39) |
V932A |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,625,032 (GRCm39) |
D276G |
probably damaging |
Het |
| Pkia |
T |
A |
3: 7,502,499 (GRCm39) |
D25E |
probably damaging |
Het |
| Plxna2 |
A |
C |
1: 194,326,458 (GRCm39) |
S131R |
probably damaging |
Het |
| Prelid1 |
T |
C |
13: 55,472,220 (GRCm39) |
V132A |
possibly damaging |
Het |
| Psma3 |
T |
C |
12: 71,030,163 (GRCm39) |
Y59H |
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,732,916 (GRCm39) |
E602A |
possibly damaging |
Het |
| Ptpro |
T |
C |
6: 137,353,987 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,449,239 (GRCm39) |
L878P |
probably damaging |
Het |
| Pxn |
G |
A |
5: 115,692,027 (GRCm39) |
G370S |
probably damaging |
Het |
| Rcn2 |
G |
T |
9: 55,949,453 (GRCm39) |
A40S |
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,760 (GRCm39) |
N258D |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,423,622 (GRCm39) |
T28A |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,997,795 (GRCm39) |
V1100E |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,173 (GRCm39) |
I1858F |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,400,595 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,072,737 (GRCm39) |
W2191R |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,948,055 (GRCm39) |
R405H |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,948,137 (GRCm39) |
Y859H |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,513,500 (GRCm39) |
S1245P |
possibly damaging |
Het |
| Tpcn1 |
G |
A |
5: 120,677,324 (GRCm39) |
T661M |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,863,424 (GRCm39) |
F533L |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
| Vax2 |
T |
C |
6: 83,688,426 (GRCm39) |
S50P |
possibly damaging |
Het |
| Vmn1r5 |
A |
C |
6: 56,962,784 (GRCm39) |
E153A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,366,762 (GRCm39) |
P486Q |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,827 (GRCm39) |
F246I |
probably damaging |
Het |
| Zc3h10 |
C |
A |
10: 128,380,624 (GRCm39) |
E244D |
probably damaging |
Het |
| Zdhhc18 |
T |
A |
4: 133,340,966 (GRCm39) |
K265* |
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 |
|
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 |
|
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'- ACTGGGAAATGATGGACCTCGTGC -3'
(R):5'- AGGAGTCTTTGGAAATCGCTGGATG -3'
Sequencing Primer
(F):5'- ACCTCGTGCCAGCAGTC -3'
(R):5'- GGTGGCTCCATCGAGATTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation