Incidental Mutation 'BB020:Spata31d1e'
| ID |
643135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1e
|
| Ensembl Gene |
ENSMUSG00000051054 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1E |
| Synonyms |
1700014D04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
BB020
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59888656-59894566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59891565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 85
(L85P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055343]
[ENSMUST00000178508]
[ENSMUST00000180139]
|
| AlphaFold |
J3QMS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055343
|
| SMART Domains |
Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178508
AA Change: L85P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054
AA Change: L85P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM75
|
66 |
99 |
7.4e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180139
AA Change: L85P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: L85P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM75
|
66 |
439 |
6.9e-97 |
PFAM |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
835 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
| Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
| Cpsf4 |
T |
A |
5: 145,104,168 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
| Dnajc7 |
T |
C |
11: 100,487,038 (GRCm39) |
Y145C |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
| Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
| Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
| Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
| Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
| Tapbpl |
T |
G |
6: 125,207,233 (GRCm39) |
Q152P |
probably damaging |
Het |
| Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,592,178 (GRCm39) |
H84R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,944,788 (GRCm39) |
V35A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
Het |
|
| Other mutations in Spata31d1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB010:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Spata31d1e
|
UTSW |
13 |
59,890,282 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1483:Spata31d1e
|
UTSW |
13 |
59,890,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Spata31d1e
|
UTSW |
13 |
59,890,434 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1842:Spata31d1e
|
UTSW |
13 |
59,890,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Spata31d1e
|
UTSW |
13 |
59,890,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2027:Spata31d1e
|
UTSW |
13 |
59,890,401 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2206:Spata31d1e
|
UTSW |
13 |
59,890,920 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2207:Spata31d1e
|
UTSW |
13 |
59,890,920 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2882:Spata31d1e
|
UTSW |
13 |
59,890,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3508:Spata31d1e
|
UTSW |
13 |
59,890,319 (GRCm39) |
nonsense |
probably null |
|
|
R4447:Spata31d1e
|
UTSW |
13 |
59,890,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4560:Spata31d1e
|
UTSW |
13 |
59,889,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Spata31d1e
|
UTSW |
13 |
59,890,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Spata31d1e
|
UTSW |
13 |
59,891,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Spata31d1e
|
UTSW |
13 |
59,890,234 (GRCm39) |
splice site |
probably null |
|
|
R5580:Spata31d1e
|
UTSW |
13 |
59,890,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5752:Spata31d1e
|
UTSW |
13 |
59,891,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6266:Spata31d1e
|
UTSW |
13 |
59,890,126 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6267:Spata31d1e
|
UTSW |
13 |
59,890,497 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6296:Spata31d1e
|
UTSW |
13 |
59,890,497 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6939:Spata31d1e
|
UTSW |
13 |
59,889,872 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6973:Spata31d1e
|
UTSW |
13 |
59,890,521 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7107:Spata31d1e
|
UTSW |
13 |
59,889,997 (GRCm39) |
nonsense |
probably null |
|
|
R7123:Spata31d1e
|
UTSW |
13 |
59,891,254 (GRCm39) |
nonsense |
probably null |
|
|
R7254:Spata31d1e
|
UTSW |
13 |
59,889,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7354:Spata31d1e
|
UTSW |
13 |
59,889,648 (GRCm39) |
nonsense |
probably null |
|
|
R7536:Spata31d1e
|
UTSW |
13 |
59,889,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7729:Spata31d1e
|
UTSW |
13 |
59,889,437 (GRCm39) |
missense |
not run |
|
|
R7912:Spata31d1e
|
UTSW |
13 |
59,890,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Spata31d1e
|
UTSW |
13 |
59,890,191 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8347:Spata31d1e
|
UTSW |
13 |
59,890,050 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8370:Spata31d1e
|
UTSW |
13 |
59,891,766 (GRCm39) |
missense |
probably benign |
|
|
R8395:Spata31d1e
|
UTSW |
13 |
59,889,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Spata31d1e
|
UTSW |
13 |
59,891,412 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8930:Spata31d1e
|
UTSW |
13 |
59,890,015 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8932:Spata31d1e
|
UTSW |
13 |
59,890,015 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9127:Spata31d1e
|
UTSW |
13 |
59,890,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9262:Spata31d1e
|
UTSW |
13 |
59,890,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9401:Spata31d1e
|
UTSW |
13 |
59,890,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9514:Spata31d1e
|
UTSW |
13 |
59,890,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9786:Spata31d1e
|
UTSW |
13 |
59,890,498 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0024:Spata31d1e
|
UTSW |
13 |
59,890,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAGCTACCTTAGGCAAAG -3'
(R):5'- ATTTCTCCAGATCCCAAGAGGTC -3'
Sequencing Primer
(F):5'- CTTAGGCAAAGGTTGAGGATGGAC -3'
(R):5'- TCCAGATCCCAAGAGGTCAGAAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation