Incidental Mutation 'R1620:Spata17'
| ID |
174594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata17
|
| Ensembl Gene |
ENSMUSG00000026611 |
| Gene Name |
spermatogenesis associated 17 |
| Synonyms |
4930513F16Rik, 4930504I07Rik, 1700065F16Rik |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
186776845-186947662 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 186915412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027908]
[ENSMUST00000110945]
[ENSMUST00000183819]
[ENSMUST00000183931]
|
| AlphaFold |
Q9D552 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027908
|
| SMART Domains |
Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
| 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 benign
Transcript: ENSMUST00000110945
|
| SMART Domains |
Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611
| 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 benign
Transcript: ENSMUST00000159848
|
| SMART Domains |
Protein: ENSMUSP00000123771
Gene: ENSMUSG00000026611
| 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 benign
Transcript: ENSMUST00000183819
|
| SMART Domains |
Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
| 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 benign
Transcript: ENSMUST00000183931
|
| SMART Domains |
Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
63 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
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 |
|
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 |
|
|
R7990:Spata17
|
UTSW |
1 |
186,872,592 (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'- AGGGGCTTGGCACAGCTAACTTTC -3'
(R):5'- GCAAGGCACAATTTTGCCTCATCAC -3'
Sequencing Primer
(F):5'- GGCACAGCTAACTTTCTAACTAGTG -3'
(R):5'- ACTCAGCGGAGAGCATTTTATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation