Incidental Mutation 'R2232:Spmap2l'
ID |
240095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spmap2l
|
Ensembl Gene |
ENSMUSG00000029248 |
Gene Name |
sperm microtubule associated protein 2 like |
Synonyms |
1700023E05Rik, Thegl |
MMRRC Submission |
040233-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R2232 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
77163879-77209382 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77207252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 337
(I337V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031161]
[ENSMUST00000117880]
|
AlphaFold |
Q9DA15 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031161
AA Change: I337V
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031161 Gene: ENSMUSG00000029248 AA Change: I337V
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
30 |
N/A |
INTRINSIC |
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
THEG
|
172 |
190 |
4.56e2 |
SMART |
THEG
|
212 |
231 |
5.84e0 |
SMART |
THEG
|
258 |
277 |
3.1e-1 |
SMART |
THEG
|
291 |
310 |
8.37e2 |
SMART |
THEG
|
327 |
346 |
7.65e1 |
SMART |
THEG
|
367 |
386 |
3.61e1 |
SMART |
THEG
|
403 |
422 |
1.15e1 |
SMART |
THEG
|
440 |
459 |
9.98e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117880
AA Change: I337V
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112814 Gene: ENSMUSG00000029248 AA Change: I337V
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
30 |
N/A |
INTRINSIC |
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
THEG
|
172 |
190 |
4.56e2 |
SMART |
THEG
|
212 |
231 |
5.84e0 |
SMART |
THEG
|
258 |
277 |
3.1e-1 |
SMART |
THEG
|
291 |
310 |
8.37e2 |
SMART |
THEG
|
327 |
346 |
7.65e1 |
SMART |
THEG
|
367 |
386 |
3.61e1 |
SMART |
THEG
|
403 |
422 |
1.15e1 |
SMART |
THEG
|
440 |
459 |
9.98e0 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
C |
5: 121,657,795 (GRCm39) |
D499E |
possibly damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,993,190 (GRCm39) |
G740E |
probably damaging |
Het |
Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
Akap9 |
G |
A |
5: 4,096,603 (GRCm39) |
V2493I |
probably damaging |
Het |
Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
Asns |
A |
G |
6: 7,689,316 (GRCm39) |
I62T |
possibly damaging |
Het |
Celf3 |
T |
A |
3: 94,387,566 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
A |
G |
17: 32,853,244 (GRCm39) |
T403A |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,156,414 (GRCm39) |
D112G |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,362,444 (GRCm39) |
F347S |
probably damaging |
Het |
Htr2a |
A |
T |
14: 74,882,469 (GRCm39) |
I152F |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,441,761 (GRCm39) |
C219R |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,422,359 (GRCm39) |
L403S |
probably damaging |
Het |
Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
Lrrk2 |
A |
G |
15: 91,648,919 (GRCm39) |
K1638E |
probably benign |
Het |
Mcpt9 |
A |
T |
14: 56,265,445 (GRCm39) |
C85S |
probably benign |
Het |
Mindy3 |
C |
A |
2: 12,408,856 (GRCm39) |
R73M |
probably benign |
Het |
Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
Nes |
T |
A |
3: 87,886,238 (GRCm39) |
I1499N |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,279 (GRCm39) |
S1133P |
probably benign |
Het |
Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
Pigq |
T |
C |
17: 26,151,183 (GRCm39) |
H322R |
probably benign |
Het |
Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
Prpf39 |
C |
T |
12: 65,090,786 (GRCm39) |
R32* |
probably null |
Het |
Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
Pth2r |
G |
T |
1: 65,375,928 (GRCm39) |
W62L |
probably damaging |
Het |
Scin |
T |
A |
12: 40,118,930 (GRCm39) |
K622I |
probably damaging |
Het |
Serpinb6a |
T |
C |
13: 34,109,303 (GRCm39) |
K143R |
probably damaging |
Het |
Ska1 |
G |
T |
18: 74,330,137 (GRCm39) |
|
probably null |
Het |
Slc30a8 |
G |
T |
15: 52,169,960 (GRCm39) |
R62S |
probably benign |
Het |
Slc8a3 |
A |
C |
12: 81,361,994 (GRCm39) |
I275S |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
Sult1c2 |
G |
T |
17: 54,138,848 (GRCm39) |
T243K |
probably benign |
Het |
Svil |
T |
A |
18: 5,046,640 (GRCm39) |
M1K |
probably null |
Het |
Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,831 (GRCm39) |
S1439P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
Usp20 |
A |
G |
2: 30,908,750 (GRCm39) |
N777S |
probably benign |
Het |
Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
|
Other mutations in Spmap2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00582:Spmap2l
|
APN |
5 |
77,208,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02008:Spmap2l
|
APN |
5 |
77,208,605 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02014:Spmap2l
|
APN |
5 |
77,195,002 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02525:Spmap2l
|
APN |
5 |
77,164,400 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03036:Spmap2l
|
APN |
5 |
77,164,197 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03200:Spmap2l
|
APN |
5 |
77,208,711 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03302:Spmap2l
|
APN |
5 |
77,202,423 (GRCm39) |
missense |
probably benign |
0.09 |
R0242:Spmap2l
|
UTSW |
5 |
77,164,152 (GRCm39) |
nonsense |
probably null |
|
R0242:Spmap2l
|
UTSW |
5 |
77,164,152 (GRCm39) |
nonsense |
probably null |
|
R0483:Spmap2l
|
UTSW |
5 |
77,185,204 (GRCm39) |
splice site |
probably benign |
|
R1875:Spmap2l
|
UTSW |
5 |
77,202,431 (GRCm39) |
missense |
probably benign |
0.29 |
R2121:Spmap2l
|
UTSW |
5 |
77,208,605 (GRCm39) |
missense |
probably benign |
0.01 |
R2280:Spmap2l
|
UTSW |
5 |
77,207,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:Spmap2l
|
UTSW |
5 |
77,207,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Spmap2l
|
UTSW |
5 |
77,202,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4423:Spmap2l
|
UTSW |
5 |
77,202,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4424:Spmap2l
|
UTSW |
5 |
77,202,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4935:Spmap2l
|
UTSW |
5 |
77,185,200 (GRCm39) |
critical splice donor site |
probably null |
|
R5041:Spmap2l
|
UTSW |
5 |
77,203,928 (GRCm39) |
missense |
probably benign |
0.05 |
R5175:Spmap2l
|
UTSW |
5 |
77,164,317 (GRCm39) |
missense |
probably benign |
0.00 |
R5560:Spmap2l
|
UTSW |
5 |
77,164,333 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6086:Spmap2l
|
UTSW |
5 |
77,209,152 (GRCm39) |
missense |
probably benign |
0.11 |
R6193:Spmap2l
|
UTSW |
5 |
77,164,183 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7070:Spmap2l
|
UTSW |
5 |
77,195,124 (GRCm39) |
critical splice donor site |
probably null |
|
R7453:Spmap2l
|
UTSW |
5 |
77,208,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R7703:Spmap2l
|
UTSW |
5 |
77,164,444 (GRCm39) |
missense |
probably benign |
0.34 |
R8534:Spmap2l
|
UTSW |
5 |
77,207,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R8899:Spmap2l
|
UTSW |
5 |
77,185,200 (GRCm39) |
critical splice donor site |
probably null |
|
R9126:Spmap2l
|
UTSW |
5 |
77,164,453 (GRCm39) |
missense |
probably damaging |
0.96 |
R9525:Spmap2l
|
UTSW |
5 |
77,195,138 (GRCm39) |
missense |
probably benign |
0.01 |
RF007:Spmap2l
|
UTSW |
5 |
77,164,255 (GRCm39) |
small insertion |
probably benign |
|
RF010:Spmap2l
|
UTSW |
5 |
77,164,274 (GRCm39) |
small insertion |
probably benign |
|
RF014:Spmap2l
|
UTSW |
5 |
77,164,247 (GRCm39) |
small insertion |
probably benign |
|
RF016:Spmap2l
|
UTSW |
5 |
77,164,255 (GRCm39) |
small insertion |
probably benign |
|
RF020:Spmap2l
|
UTSW |
5 |
77,164,247 (GRCm39) |
small insertion |
probably benign |
|
RF028:Spmap2l
|
UTSW |
5 |
77,164,248 (GRCm39) |
small insertion |
probably benign |
|
RF030:Spmap2l
|
UTSW |
5 |
77,164,248 (GRCm39) |
small insertion |
probably benign |
|
RF031:Spmap2l
|
UTSW |
5 |
77,164,257 (GRCm39) |
small insertion |
probably benign |
|
RF033:Spmap2l
|
UTSW |
5 |
77,164,276 (GRCm39) |
small insertion |
probably benign |
|
RF033:Spmap2l
|
UTSW |
5 |
77,164,252 (GRCm39) |
small insertion |
probably benign |
|
RF036:Spmap2l
|
UTSW |
5 |
77,164,276 (GRCm39) |
small insertion |
probably benign |
|
RF037:Spmap2l
|
UTSW |
5 |
77,164,268 (GRCm39) |
small insertion |
probably benign |
|
RF039:Spmap2l
|
UTSW |
5 |
77,164,249 (GRCm39) |
small insertion |
probably benign |
|
RF044:Spmap2l
|
UTSW |
5 |
77,164,252 (GRCm39) |
small insertion |
probably benign |
|
RF046:Spmap2l
|
UTSW |
5 |
77,164,250 (GRCm39) |
small insertion |
probably benign |
|
RF055:Spmap2l
|
UTSW |
5 |
77,164,250 (GRCm39) |
small insertion |
probably benign |
|
RF060:Spmap2l
|
UTSW |
5 |
77,164,274 (GRCm39) |
small insertion |
probably benign |
|
RF063:Spmap2l
|
UTSW |
5 |
77,164,273 (GRCm39) |
small insertion |
probably benign |
|
RF064:Spmap2l
|
UTSW |
5 |
77,164,262 (GRCm39) |
small insertion |
probably benign |
|
Z1176:Spmap2l
|
UTSW |
5 |
77,208,641 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTATAGCTGGCGTGGAAC -3'
(R):5'- TTCTGATGACTTTGGCCTAGGC -3'
Sequencing Primer
(F):5'- CCCGTACAGTCCAGTTTGAGTAAG -3'
(R):5'- CCTTGTGGAGGCAAAACAGCATC -3'
|
Posted On |
2014-10-15 |