Incidental Mutation 'R3545:Spata32'
| ID |
268175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata32
|
| Ensembl Gene |
ENSMUSG00000044787 |
| Gene Name |
spermatogenesis associated 32 |
| Synonyms |
4933400C05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R3545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103098953-103109258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103101570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021323]
[ENSMUST00000103076]
[ENSMUST00000107026]
[ENSMUST00000172850]
[ENSMUST00000174567]
|
| AlphaFold |
Q8C5V0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021323
|
| SMART Domains |
Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
109 |
137 |
7.23e1 |
SMART |
|
EFh
|
145 |
173 |
6.68e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103076
AA Change: E21G
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099365
Gene: ENSMUSG00000044787
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
|
Pfam:VAD1-2
|
106 |
332 |
3e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107026
|
| SMART Domains |
Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
40 |
68 |
7.23e1 |
SMART |
|
EFh
|
76 |
104 |
6.68e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172850
|
| SMART Domains |
Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
109 |
137 |
3.5e-1 |
SMART |
|
EFh
|
145 |
173 |
3.2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174567
|
| SMART Domains |
Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mr8a_
|
153 |
209 |
5e-8 |
SMART |
|
Blast:EFh
|
159 |
187 |
4e-12 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Efl1 |
A |
T |
7: 82,412,018 (GRCm39) |
E802D |
probably benign |
Het |
| F11r |
T |
C |
1: 171,288,829 (GRCm39) |
V149A |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,330,192 (GRCm39) |
D194G |
unknown |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,833,670 (GRCm39) |
S186P |
probably damaging |
Het |
| Hexa |
A |
G |
9: 59,464,581 (GRCm39) |
N157S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,026,089 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,256,757 (GRCm39) |
I125T |
probably benign |
Het |
| Nme7 |
T |
C |
1: 164,213,351 (GRCm39) |
F343S |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,391,684 (GRCm39) |
E443G |
probably damaging |
Het |
| Palld |
G |
T |
8: 62,003,112 (GRCm39) |
A329E |
possibly damaging |
Het |
| Pask |
A |
T |
1: 93,244,837 (GRCm39) |
V1095D |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,557 (GRCm39) |
R1526Q |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
| Ramac |
T |
A |
7: 81,418,270 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,243,499 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Tubal3 |
T |
G |
13: 3,983,560 (GRCm39) |
*447G |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
|
| Other mutations in Spata32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02422:Spata32
|
APN |
11 |
103,099,706 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02712:Spata32
|
APN |
11 |
103,098,973 (GRCm39) |
intron |
probably benign |
|
|
IGL02966:Spata32
|
APN |
11 |
103,099,629 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03178:Spata32
|
APN |
11 |
103,101,588 (GRCm39) |
missense |
probably benign |
|
|
PIT4469001:Spata32
|
UTSW |
11 |
103,100,653 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0245:Spata32
|
UTSW |
11 |
103,099,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0454:Spata32
|
UTSW |
11 |
103,100,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Spata32
|
UTSW |
11 |
103,099,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Spata32
|
UTSW |
11 |
103,101,561 (GRCm39) |
unclassified |
probably benign |
|
|
R5485:Spata32
|
UTSW |
11 |
103,100,122 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5576:Spata32
|
UTSW |
11 |
103,100,653 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8966:Spata32
|
UTSW |
11 |
103,100,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9011:Spata32
|
UTSW |
11 |
103,100,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9448:Spata32
|
UTSW |
11 |
103,099,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Spata32
|
UTSW |
11 |
103,099,741 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9564:Spata32
|
UTSW |
11 |
103,099,779 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTGTGTGCTCCACCATAG -3'
(R):5'- ATCCTGGCAAGGGGTTGATG -3'
Sequencing Primer
(F):5'- ATAGCCCTCCGTCAAGGTTG -3'
(R):5'- CAAGGGGTTGATGAGGGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation