Incidental Mutation 'RF046:Spmap2l'
ID |
605019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spmap2l
|
Ensembl Gene |
ENSMUSG00000029248 |
Gene Name |
sperm microtubule associated protein 2 like |
Synonyms |
1700023E05Rik, Thegl |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
RF046 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
77163879-77209382 bp(+) (GRCm39) |
Type of Mutation |
small insertion (9 aa in frame mutation) |
DNA Base Change (assembly) |
CGATCCTCCCCAGTCCCGCAAGGCCAG to CGATCCTCCCCAGTCCCGCAAGGCCAGGGATCCTCCCCAGTCCCGCAAGGCCAG
at 77164250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031161]
[ENSMUST00000117880]
|
AlphaFold |
Q9DA15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031161
|
SMART Domains |
Protein: ENSMUSP00000031161 Gene: ENSMUSG00000029248
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 |
probably benign
Transcript: ENSMUST00000117880
|
SMART Domains |
Protein: ENSMUSP00000112814 Gene: ENSMUSG00000029248
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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
TTTT |
TTTTT |
11: 30,376,249 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
CGGCGG |
CGGCGGGGGCGG |
18: 36,693,979 (GRCm39) |
|
probably benign |
Het |
Apc |
A |
AATAAAGCGC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
Arid1b |
GGC |
GGCCGC |
17: 5,045,865 (GRCm39) |
|
probably benign |
Het |
Chd4 |
G |
GTTCCCT |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
Dclre1a |
CTTTGCT |
C |
19: 56,532,564 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
CATC |
CATCATC |
2: 130,612,654 (GRCm39) |
|
probably null |
Het |
Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
CGCCGCCGCCA |
C |
2: 151,384,618 (GRCm39) |
|
probably null |
Het |
Flywch1 |
CTCCTGGTGT |
CTCCTGGTGTGGGGAGGCTACGTACTCACCCAATCCTGGTGT |
17: 23,981,143 (GRCm39) |
|
probably null |
Het |
Flywch1 |
GGTGT |
GGTGTGGGGAGGCTACGTACTCACCCACTCCTTGTGT |
17: 23,981,148 (GRCm39) |
|
probably null |
Het |
Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTGTCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
19: 4,374,535 (GRCm39) |
|
probably benign |
Het |
Lce1m |
GCT |
GCTCCCACCCCTTCT |
3: 92,925,600 (GRCm39) |
|
probably benign |
Het |
Lcmt1 |
GGC |
GGCCGCGGGGCGC |
7: 122,969,057 (GRCm39) |
|
probably null |
Het |
Nusap1 |
GAGGAGCAAGCTGAGA |
GAGGAGCAAGCTGAGATACACGTTAGCAGTTAGGAGCAAGCTGAGA |
2: 119,458,076 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
TTTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTTTTTTT |
15: 44,421,891 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
Pnma8a |
TA |
TAACTCATGATGCTCCTGCTTCAACA |
7: 16,695,348 (GRCm39) |
|
probably benign |
Het |
Polr1has |
CACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCAC |
17: 37,275,949 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,694,345 (GRCm39) |
|
probably benign |
Het |
Rtbdn |
C |
CAGCGGG |
8: 85,682,808 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
TCCTGTGAGGCCCTCTGCTGC |
TC |
2: 121,046,482 (GRCm39) |
|
probably null |
Het |
Tusc1 |
CCGCCA |
CCGCCAACGCCA |
4: 93,223,539 (GRCm39) |
|
probably benign |
Het |
Usp2 |
TGACCTGTTCTTCACTTAC |
TGACCTGTTCTTCACTTACTCATGCGACCTGTTCTTCACTTAC |
9: 44,000,408 (GRCm39) |
|
probably benign |
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 |
R2232:Spmap2l
|
UTSW |
5 |
77,207,252 (GRCm39) |
missense |
possibly damaging |
0.84 |
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 |
|
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'- TCAGGTTCATCCGTGCGATC -3'
(R):5'- TCACTGCGTTGGGAAACAAATC -3'
Sequencing Primer
(F):5'- TTCATCCGTGCGATCCGAGG -3'
(R):5'- GCGTTGGGAAACAAATCATCTTTTCC -3'
|
Posted On |
2019-12-04 |