Incidental Mutation 'R2166:Spata20'
ID |
235504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata20
|
Ensembl Gene |
ENSMUSG00000020867 |
Gene Name |
spermatogenesis associated 20 |
Synonyms |
Tisp78 |
MMRRC Submission |
040169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R2166 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94369730-94376136 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94369930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 789
(H789Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021234]
[ENSMUST00000041705]
|
AlphaFold |
Q80YT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021234
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
9.2e-66 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
7.9e-46 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
3e-55 |
PFAM |
coiled coil region
|
1519 |
1559 |
N/A |
INTRINSIC |
low complexity region
|
1562 |
1573 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1630 |
1835 |
3e-49 |
PFAM |
Pfam:PKD_channel
|
1688 |
1842 |
7.8e-11 |
PFAM |
low complexity region
|
2180 |
2211 |
N/A |
INTRINSIC |
low complexity region
|
2230 |
2246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041705
AA Change: H789Y
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000042572 Gene: ENSMUSG00000020867 AA Change: H789Y
Domain | Start | End | E-Value | Type |
Pfam:Thioredox_DsbH
|
66 |
228 |
2.9e-75 |
PFAM |
Pfam:Thioredoxin_7
|
86 |
176 |
1.5e-13 |
PFAM |
SCOP:d1fp3a_
|
464 |
686 |
8e-48 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151707
|
Meta Mutation Damage Score |
0.0853 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
probably damaging |
Het |
|
Other mutations in Spata20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Spata20
|
APN |
11 |
94,369,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01123:Spata20
|
APN |
11 |
94,374,221 (GRCm39) |
missense |
probably benign |
|
IGL02008:Spata20
|
APN |
11 |
94,374,289 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Spata20
|
UTSW |
11 |
94,375,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R0136:Spata20
|
UTSW |
11 |
94,371,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Spata20
|
UTSW |
11 |
94,372,472 (GRCm39) |
missense |
probably benign |
|
R0557:Spata20
|
UTSW |
11 |
94,376,048 (GRCm39) |
missense |
probably benign |
0.00 |
R0657:Spata20
|
UTSW |
11 |
94,371,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R1712:Spata20
|
UTSW |
11 |
94,371,340 (GRCm39) |
missense |
probably benign |
|
R4298:Spata20
|
UTSW |
11 |
94,373,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R4740:Spata20
|
UTSW |
11 |
94,375,404 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4791:Spata20
|
UTSW |
11 |
94,375,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R4980:Spata20
|
UTSW |
11 |
94,375,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5894:Spata20
|
UTSW |
11 |
94,374,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R6373:Spata20
|
UTSW |
11 |
94,374,226 (GRCm39) |
missense |
probably benign |
|
R7400:Spata20
|
UTSW |
11 |
94,374,226 (GRCm39) |
missense |
probably benign |
|
R7439:Spata20
|
UTSW |
11 |
94,374,867 (GRCm39) |
missense |
probably benign |
0.02 |
R7441:Spata20
|
UTSW |
11 |
94,374,867 (GRCm39) |
missense |
probably benign |
0.02 |
R7562:Spata20
|
UTSW |
11 |
94,373,379 (GRCm39) |
missense |
probably benign |
0.31 |
R7974:Spata20
|
UTSW |
11 |
94,374,966 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8036:Spata20
|
UTSW |
11 |
94,369,963 (GRCm39) |
missense |
probably benign |
0.17 |
R8060:Spata20
|
UTSW |
11 |
94,373,065 (GRCm39) |
missense |
probably benign |
|
R8335:Spata20
|
UTSW |
11 |
94,373,369 (GRCm39) |
missense |
probably benign |
0.05 |
R8447:Spata20
|
UTSW |
11 |
94,373,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R8676:Spata20
|
UTSW |
11 |
94,372,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Spata20
|
UTSW |
11 |
94,374,444 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Spata20
|
UTSW |
11 |
94,371,361 (GRCm39) |
missense |
probably benign |
0.45 |
Z1177:Spata20
|
UTSW |
11 |
94,373,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACCACGGGACACTGTTAG -3'
(R):5'- ATTCTCCCAGGTGACACTTTG -3'
Sequencing Primer
(F):5'- CCACGGGACACTGTTAGGTTTATTTC -3'
(R):5'- CCAGGTGACACTTTGTGCTCTG -3'
|
Posted On |
2014-10-01 |