Incidental Mutation 'R7990:Spata17'
ID |
651662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata17
|
Ensembl Gene |
ENSMUSG00000026611 |
Gene Name |
spermatogenesis associated 17 |
Synonyms |
4930513F16Rik, 4930504I07Rik, 1700065F16Rik |
MMRRC Submission |
046031-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R7990 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
186776845-186947662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 186872592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 26
(H26L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027908]
[ENSMUST00000110945]
[ENSMUST00000183819]
[ENSMUST00000183931]
[ENSMUST00000183996]
[ENSMUST00000184543]
|
AlphaFold |
Q9D552 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027908
AA Change: H182L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027908 Gene: ENSMUSG00000026611 AA Change: H182L
Domain | Start | End | E-Value | Type |
IQ
|
47 |
69 |
5.27e0 |
SMART |
IQ
|
70 |
92 |
1.77e-2 |
SMART |
IQ
|
106 |
128 |
1.4e1 |
SMART |
coiled coil region
|
133 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110945
AA Change: H182L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106570 Gene: ENSMUSG00000026611 AA Change: H182L
Domain | Start | End | E-Value | Type |
IQ
|
47 |
69 |
5.27e0 |
SMART |
IQ
|
70 |
92 |
1.77e-2 |
SMART |
IQ
|
106 |
128 |
1.4e1 |
SMART |
coiled coil region
|
133 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183819
AA Change: H182L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138855 Gene: ENSMUSG00000026611 AA Change: H182L
Domain | Start | End | E-Value | Type |
IQ
|
47 |
69 |
5.27e0 |
SMART |
IQ
|
70 |
92 |
1.77e-2 |
SMART |
IQ
|
106 |
128 |
1.4e1 |
SMART |
coiled coil region
|
133 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183931
AA Change: H73L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139329 Gene: ENSMUSG00000026611 AA Change: H73L
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183996
AA Change: H26L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139073 Gene: ENSMUSG00000026611 AA Change: H26L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000184543
AA Change: H26L
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
G |
A |
3: 89,970,549 (GRCm39) |
V28I |
probably damaging |
Het |
Abcd4 |
G |
T |
12: 84,651,162 (GRCm39) |
|
probably null |
Het |
Alg2 |
T |
C |
4: 47,472,308 (GRCm39) |
T167A |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,044,586 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
A |
11: 80,024,079 (GRCm39) |
C1730* |
probably null |
Het |
Atp8b1 |
T |
C |
18: 64,671,748 (GRCm39) |
T1092A |
possibly damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,672 (GRCm39) |
T242A |
probably benign |
Het |
Ccdc88c |
A |
G |
12: 100,934,244 (GRCm39) |
V211A |
probably damaging |
Het |
Ccnl1 |
A |
G |
3: 65,854,314 (GRCm39) |
S436P |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,632,547 (GRCm39) |
E268G |
probably damaging |
Het |
Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
Col6a3 |
T |
G |
1: 90,709,577 (GRCm39) |
K2480T |
unknown |
Het |
Cryba1 |
T |
C |
11: 77,614,411 (GRCm39) |
T21A |
possibly damaging |
Het |
Csn1s1 |
C |
T |
5: 87,827,912 (GRCm39) |
A259V |
possibly damaging |
Het |
Dap3 |
A |
C |
3: 88,835,814 (GRCm39) |
Y206* |
probably null |
Het |
Etnppl |
T |
C |
3: 130,424,308 (GRCm39) |
I360T |
possibly damaging |
Het |
Gal3st3 |
A |
T |
19: 5,352,617 (GRCm39) |
M15L |
probably benign |
Het |
Gdf5 |
A |
G |
2: 155,783,749 (GRCm39) |
V401A |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,792,137 (GRCm39) |
S628P |
possibly damaging |
Het |
Gm9493 |
A |
T |
19: 23,597,397 (GRCm39) |
I98F |
possibly damaging |
Het |
Grin2a |
T |
C |
16: 9,397,040 (GRCm39) |
K1016E |
possibly damaging |
Het |
Hdac9 |
T |
C |
12: 34,265,452 (GRCm39) |
N850D |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,685,629 (GRCm39) |
L466I |
unknown |
Het |
Jkampl |
T |
C |
6: 73,446,528 (GRCm39) |
Y7C |
probably damaging |
Het |
Kcnj16 |
C |
A |
11: 110,915,886 (GRCm39) |
R183S |
probably damaging |
Het |
Kcnk2 |
A |
C |
1: 188,942,102 (GRCm39) |
L389R |
probably damaging |
Het |
Kdm4c |
A |
C |
4: 74,309,685 (GRCm39) |
K949N |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,159,383 (GRCm39) |
E395K |
probably benign |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Map3k1 |
A |
T |
13: 111,892,696 (GRCm39) |
M853K |
probably benign |
Het |
Metap1 |
T |
G |
3: 138,186,526 (GRCm39) |
T68P |
probably benign |
Het |
Mfsd11 |
T |
C |
11: 116,750,323 (GRCm39) |
V114A |
possibly damaging |
Het |
Mroh1 |
G |
A |
15: 76,336,475 (GRCm39) |
R1566H |
probably damaging |
Het |
Msh4 |
A |
T |
3: 153,602,529 (GRCm39) |
M233K |
probably damaging |
Het |
Ncor1 |
T |
G |
11: 62,240,321 (GRCm39) |
|
probably null |
Het |
Npl |
A |
T |
1: 153,413,230 (GRCm39) |
V29D |
possibly damaging |
Het |
Or1e29 |
C |
T |
11: 73,667,497 (GRCm39) |
V219I |
probably benign |
Het |
Osmr |
T |
C |
15: 6,881,948 (GRCm39) |
I65M |
possibly damaging |
Het |
Rabepk |
C |
T |
2: 34,670,720 (GRCm39) |
V247I |
probably benign |
Het |
Rere |
C |
T |
4: 150,699,327 (GRCm39) |
P804S |
unknown |
Het |
Rpgrip1 |
A |
T |
14: 52,366,975 (GRCm39) |
Y265F |
possibly damaging |
Het |
Slc10a1 |
T |
C |
12: 81,000,554 (GRCm39) |
D315G |
probably benign |
Het |
Smc5 |
A |
T |
19: 23,213,246 (GRCm39) |
N555K |
probably benign |
Het |
Sphkap |
C |
T |
1: 83,245,066 (GRCm39) |
D1518N |
probably damaging |
Het |
Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
Tmx2 |
A |
G |
2: 84,506,480 (GRCm39) |
F71L |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,274,996 (GRCm39) |
L1823Q |
probably benign |
Het |
Virma |
T |
A |
4: 11,513,983 (GRCm39) |
D612E |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,819,752 (GRCm39) |
L1484Q |
|
Het |
Zan |
A |
G |
5: 137,391,352 (GRCm39) |
S4711P |
unknown |
Het |
Zdhhc1 |
A |
G |
8: 106,203,001 (GRCm39) |
|
probably null |
Het |
Zfp971 |
C |
T |
2: 177,675,361 (GRCm39) |
T320I |
probably damaging |
Het |
|
Other mutations in Spata17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Spata17
|
APN |
1 |
186,849,536 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02101:Spata17
|
APN |
1 |
186,849,657 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02268:Spata17
|
APN |
1 |
186,872,595 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02406:Spata17
|
APN |
1 |
186,849,458 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02429:Spata17
|
APN |
1 |
186,872,631 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03333:Spata17
|
APN |
1 |
186,872,667 (GRCm39) |
start codon destroyed |
probably null |
|
R0147:Spata17
|
UTSW |
1 |
186,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R0148:Spata17
|
UTSW |
1 |
186,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R0269:Spata17
|
UTSW |
1 |
186,830,069 (GRCm39) |
missense |
probably benign |
0.02 |
R1521:Spata17
|
UTSW |
1 |
186,926,191 (GRCm39) |
missense |
probably damaging |
0.96 |
R1620:Spata17
|
UTSW |
1 |
186,915,412 (GRCm39) |
intron |
probably benign |
|
R2017:Spata17
|
UTSW |
1 |
186,780,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2113:Spata17
|
UTSW |
1 |
186,830,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2251:Spata17
|
UTSW |
1 |
186,780,670 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4260:Spata17
|
UTSW |
1 |
186,780,677 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4572:Spata17
|
UTSW |
1 |
186,926,193 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4894:Spata17
|
UTSW |
1 |
186,872,643 (GRCm39) |
missense |
probably benign |
0.00 |
R4910:Spata17
|
UTSW |
1 |
186,926,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R6277:Spata17
|
UTSW |
1 |
186,926,151 (GRCm39) |
nonsense |
probably null |
|
R7200:Spata17
|
UTSW |
1 |
186,844,700 (GRCm39) |
missense |
probably benign |
0.00 |
R7621:Spata17
|
UTSW |
1 |
186,854,833 (GRCm39) |
splice site |
probably null |
|
R7735:Spata17
|
UTSW |
1 |
186,872,577 (GRCm39) |
missense |
unknown |
|
R8115:Spata17
|
UTSW |
1 |
186,849,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R8833:Spata17
|
UTSW |
1 |
186,915,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Spata17
|
UTSW |
1 |
186,844,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9481:Spata17
|
UTSW |
1 |
186,844,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9588:Spata17
|
UTSW |
1 |
186,849,471 (GRCm39) |
missense |
possibly damaging |
0.91 |
V7732:Spata17
|
UTSW |
1 |
186,780,677 (GRCm39) |
missense |
possibly damaging |
0.53 |
X0027:Spata17
|
UTSW |
1 |
186,926,156 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Spata17
|
UTSW |
1 |
186,872,626 (GRCm39) |
nonsense |
probably null |
|
Z1177:Spata17
|
UTSW |
1 |
186,849,525 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGTCACAGGCCAATCATG -3'
(R):5'- ATGTGCCTGATCATTGCCC -3'
Sequencing Primer
(F):5'- CCAATCATGGCGCCTGC -3'
(R):5'- GCGAATCAACAGATGCCA -3'
|
Posted On |
2020-09-15 |