Incidental Mutation 'IGL02641:Spaca9'
| ID |
301741 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spaca9
|
| Ensembl Gene |
ENSMUSG00000026809 |
| Gene Name |
sperm acrosome associated 9 |
| Synonyms |
Mast, 1700026L06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02641
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28582092-28589663 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 28585963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 34
(E34*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000074156]
[ENSMUST00000102877]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000124840]
|
| AlphaFold |
Q7TPM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028155
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
715 |
2.2e-281 |
PFAM |
|
SCOP:d1eq1a_
|
723 |
886 |
4e-11 |
SMART |
|
low complexity region
|
974 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074156
|
| SMART Domains |
Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
60 |
186 |
6.2e-8 |
PFAM |
|
Pfam:AAA_18
|
60 |
191 |
2.3e-9 |
PFAM |
|
Pfam:ADK
|
62 |
237 |
5.5e-16 |
PFAM |
|
Pfam:ADK
|
273 |
452 |
1.6e-28 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102877
AA Change: E34*
|
| SMART Domains |
Protein: ENSMUSP00000099941
Gene: ENSMUSG00000026809
AA Change: E34*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4561
|
1 |
166 |
1.5e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113867
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
710 |
7.3e-279 |
PFAM |
|
SCOP:d1eq1a_
|
718 |
881 |
6e-11 |
SMART |
|
low complexity region
|
969 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1094 |
1112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113869
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
7 |
716 |
6e-279 |
PFAM |
|
SCOP:d1eq1a_
|
724 |
887 |
4e-11 |
SMART |
|
low complexity region
|
975 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113870
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
715 |
2.2e-281 |
PFAM |
|
SCOP:d1eq1a_
|
723 |
886 |
4e-11 |
SMART |
|
low complexity region
|
974 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123794
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124840
AA Change: E34*
|
| SMART Domains |
Protein: ENSMUSP00000121846
Gene: ENSMUSG00000026809
AA Change: E34*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4561
|
1 |
167 |
4.1e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145014
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
T |
4: 124,504,510 (GRCm39) |
M14K |
unknown |
Het |
| Arhgap24 |
T |
C |
5: 103,040,386 (GRCm39) |
V441A |
probably damaging |
Het |
| Cdv3 |
G |
T |
9: 103,241,223 (GRCm39) |
Q115K |
probably damaging |
Het |
| Clstn1 |
G |
T |
4: 149,713,968 (GRCm39) |
G207C |
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,014,794 (GRCm39) |
Y870* |
probably null |
Het |
| Creb3 |
A |
C |
4: 43,563,311 (GRCm39) |
H136P |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,912,375 (GRCm39) |
C320Y |
probably damaging |
Het |
| Fbl |
T |
C |
7: 27,874,471 (GRCm39) |
S66P |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,731 (GRCm39) |
S279R |
probably damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,796 (GRCm39) |
R276* |
probably null |
Het |
| Hcfc2 |
A |
G |
10: 82,538,383 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ighg3 |
A |
G |
12: 113,323,818 (GRCm39) |
I190T |
unknown |
Het |
| Itgav |
T |
C |
2: 83,598,689 (GRCm39) |
|
probably benign |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Ldoc1 |
G |
A |
X: 60,753,419 (GRCm39) |
C35Y |
probably damaging |
Het |
| Lrp10 |
T |
A |
14: 54,706,068 (GRCm39) |
C419* |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,705,094 (GRCm39) |
D80G |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,566 (GRCm39) |
C142* |
probably null |
Het |
| Pde3b |
C |
T |
7: 114,130,052 (GRCm39) |
T869I |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,628,976 (GRCm39) |
T657I |
possibly damaging |
Het |
| Pnisr |
A |
G |
4: 21,860,908 (GRCm39) |
N197S |
probably benign |
Het |
| Rpl21-ps4 |
G |
A |
14: 11,227,661 (GRCm38) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
C |
11: 75,156,650 (GRCm39) |
T361P |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,569,411 (GRCm39) |
D478E |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,576 (GRCm39) |
D156G |
probably damaging |
Het |
| Ufc1 |
T |
C |
1: 171,117,764 (GRCm39) |
D50G |
probably damaging |
Het |
| Vmn1r202 |
T |
G |
13: 22,686,274 (GRCm39) |
I48L |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,205 (GRCm39) |
V17E |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,676,185 (GRCm39) |
M1263L |
probably benign |
Het |
|
| Other mutations in Spaca9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02175:Spaca9
|
APN |
2 |
28,585,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0376:Spaca9
|
UTSW |
2 |
28,583,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0452:Spaca9
|
UTSW |
2 |
28,586,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Spaca9
|
UTSW |
2 |
28,583,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2020:Spaca9
|
UTSW |
2 |
28,586,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4244:Spaca9
|
UTSW |
2 |
28,582,998 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6145:Spaca9
|
UTSW |
2 |
28,583,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Spaca9
|
UTSW |
2 |
28,583,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Spaca9
|
UTSW |
2 |
28,583,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Spaca9
|
UTSW |
2 |
28,583,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation