Incidental Mutation 'R6373:Spata20'
| ID |
513634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata20
|
| Ensembl Gene |
ENSMUSG00000020867 |
| Gene Name |
spermatogenesis associated 20 |
| Synonyms |
Tisp78 |
| MMRRC Submission |
044523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R6373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94369730-94376136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94374226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 348
(V348A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041705]
|
| AlphaFold |
Q80YT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041705
AA Change: V348A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: V348A
| 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: ENSMUST00000125310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151707
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (37/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,038,240 (GRCm39) |
L279P |
probably damaging |
Het |
| Aldh16a1 |
C |
G |
7: 44,795,695 (GRCm39) |
V373L |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,665,999 (GRCm39) |
K278E |
probably benign |
Het |
| Carns1 |
G |
T |
19: 4,216,515 (GRCm39) |
Q556K |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,958,898 (GRCm39) |
E650V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,118 (GRCm39) |
S1195P |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,638 (GRCm39) |
H464R |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,068,847 (GRCm39) |
L58S |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,809,989 (GRCm39) |
M427R |
probably benign |
Het |
| Gm6309 |
A |
T |
5: 146,107,085 (GRCm39) |
I87N |
probably damaging |
Het |
| H2ac7 |
A |
G |
13: 23,759,027 (GRCm39) |
K128R |
probably benign |
Het |
| Helz |
A |
G |
11: 107,486,010 (GRCm39) |
T140A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,541,618 (GRCm39) |
H1227Q |
possibly damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,723,065 (GRCm39) |
M386T |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,022,994 (GRCm39) |
I1644F |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,102,923 (GRCm39) |
P513S |
probably damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,325,988 (GRCm39) |
T462A |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,559,860 (GRCm39) |
I163T |
probably damaging |
Het |
| Nrxn3 |
G |
C |
12: 89,943,237 (GRCm39) |
G122R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,479,724 (GRCm39) |
V280A |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,189 (GRCm39) |
I47M |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,931,454 (GRCm39) |
|
probably null |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,264 (GRCm39) |
C133* |
probably null |
Het |
| Ppihl |
A |
G |
5: 44,070,893 (GRCm39) |
T127A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,755,139 (GRCm39) |
F174L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,252,533 (GRCm39) |
N40S |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,486,889 (GRCm39) |
G3840W |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,724,595 (GRCm39) |
L529P |
probably damaging |
Het |
| Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,123,739 (GRCm39) |
E342G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syce1l |
T |
A |
8: 114,376,143 (GRCm39) |
M31K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,618,960 (GRCm39) |
V14394I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,065,764 (GRCm39) |
K407R |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,317 (GRCm39) |
I290T |
unknown |
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 |
|
|
R2166:Spata20
|
UTSW |
11 |
94,369,930 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
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'- GTGGTGGCTCAGGTTCCTAAAG -3'
(R):5'- AGGCATCCAGGATCATGTGG -3'
Sequencing Primer
(F):5'- TGGCTCAGGTTCCTAAAGGATACC -3'
(R):5'- TCCAGGATCATGTGGGGCAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation