Incidental Mutation 'IGL00502:Spata21'
| ID |
6540 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata21
|
| Ensembl Gene |
ENSMUSG00000045004 |
| Gene Name |
spermatogenesis associated 21 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL00502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140815644-140840071 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1637 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 140838675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051907]
[ENSMUST00000102487]
[ENSMUST00000148204]
|
| AlphaFold |
Q8BHW6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000039939
|
| SMART Domains |
Protein: ENSMUSP00000035712
Gene: ENSMUSG00000040842
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SUZ
|
36 |
87 |
7.7e-19 |
PFAM |
|
Pfam:SUZ-C
|
99 |
132 |
2.2e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051907
AA Change: N575K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000053080
Gene: ENSMUSG00000045004
AA Change: N575K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
|
SCOP:d1mr8a_
|
428 |
494 |
7e-13 |
SMART |
|
PDB:2RRT|A
|
432 |
494 |
2e-7 |
PDB |
|
low complexity region
|
524 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094549
|
| SMART Domains |
Protein: ENSMUSP00000092128
Gene: ENSMUSG00000040842
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SUZ
|
37 |
88 |
7.9e-19 |
PFAM |
|
Pfam:SUZ-C
|
100 |
133 |
2.2e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102487
|
| SMART Domains |
Protein: ENSMUSP00000099545
Gene: ENSMUSG00000040842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:SUZ
|
56 |
107 |
1.4e-17 |
PFAM |
|
Pfam:SUZ-C
|
120 |
151 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148204
|
| SMART Domains |
Protein: ENSMUSP00000115949
Gene: ENSMUSG00000040842
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SUZ
|
50 |
101 |
1.7e-18 |
PFAM |
|
Pfam:SUZ-C
|
113 |
146 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181450
|
| SMART Domains |
Protein: ENSMUSP00000138075
Gene: ENSMUSG00000097620
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187076
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
| Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
| Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
| Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
| Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
| Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
| Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
| Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
| Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
| Other mutations in Spata21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02679:Spata21
|
APN |
4 |
140,838,576 (GRCm39) |
unclassified |
probably benign |
|
|
R1772:Spata21
|
UTSW |
4 |
140,838,607 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1894:Spata21
|
UTSW |
4 |
140,838,692 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1950:Spata21
|
UTSW |
4 |
140,838,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Spata21
|
UTSW |
4 |
140,834,640 (GRCm39) |
nonsense |
probably null |
|
|
R2093:Spata21
|
UTSW |
4 |
140,824,277 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2911:Spata21
|
UTSW |
4 |
140,830,393 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4809:Spata21
|
UTSW |
4 |
140,824,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4897:Spata21
|
UTSW |
4 |
140,832,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4907:Spata21
|
UTSW |
4 |
140,824,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4921:Spata21
|
UTSW |
4 |
140,839,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Spata21
|
UTSW |
4 |
140,830,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Spata21
|
UTSW |
4 |
140,834,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5602:Spata21
|
UTSW |
4 |
140,824,210 (GRCm39) |
missense |
probably benign |
|
|
R6982:Spata21
|
UTSW |
4 |
140,824,184 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7503:Spata21
|
UTSW |
4 |
140,822,614 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7809:Spata21
|
UTSW |
4 |
140,831,354 (GRCm39) |
missense |
probably null |
0.83 |
|
R8072:Spata21
|
UTSW |
4 |
140,839,317 (GRCm39) |
nonsense |
probably null |
|
|
R8695:Spata21
|
UTSW |
4 |
140,838,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8703:Spata21
|
UTSW |
4 |
140,832,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8940:Spata21
|
UTSW |
4 |
140,832,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Spata21
|
UTSW |
4 |
140,831,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Spata21
|
UTSW |
4 |
140,822,467 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Spata21
|
UTSW |
4 |
140,825,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation