Incidental Mutation 'RF030:Spmap2l'
| ID |
604304 |
| 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: 0.066)
|
| Stock # |
RF030 (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) |
AGCGATCCTCCCCAGTCCCGCAAGGCC to AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC
at 77164248 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: 99.5%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GGC |
GGCTGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCCGC |
19: 5,475,263 (GRCm39) |
|
probably benign |
Het |
| Amfr |
GCC |
GCCGGCGCGAGCTCC |
8: 94,738,920 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGCCGGCG |
18: 36,693,966 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGCAGC |
GGCGGCAGCGGCAGC |
18: 36,693,980 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
GGGCACTGTGG |
GGG |
8: 21,433,916 (GRCm39) |
|
probably null |
Het |
| B430218F22Rik |
GG |
GGTCGGCG |
13: 118,523,384 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
CTGTGGCTGTGGCTGTGGCTGTGG |
CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG |
19: 47,129,692 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGATAGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCTC |
CCTCCTC |
17: 46,811,795 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,462 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
TGCCCAGGGATGTGACAGACACAC |
TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC |
9: 86,922,468 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTG |
GTGTTGGAAGTGGTGGAAGTGGTGGAAATG |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
| Fer1l4 |
GGTC |
G |
2: 155,887,449 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
CTTTT |
CT |
X: 74,043,583 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,632 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,631 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTCCT |
X: 74,043,614 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,037 (GRCm39) |
|
probably null |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
CACACACACACACACACTTAC |
CAC |
14: 62,646,090 (GRCm39) |
|
probably benign |
Het |
| Gucy2d |
C |
CTGGGGCCTG |
7: 98,108,241 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
CCACAGCTGCAG |
CCACAGCTGCAGCAGCAGACACAGCTGCAG |
4: 59,610,647 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
ATTG |
ATTGAGCACGTTG |
6: 145,119,514 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
CTCCTC |
CTCCTCTTCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
C |
CGGCTGCTGCCAA |
3: 92,925,448 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCCAC |
GCTGCCACAGCAACTTCTGCCAC |
3: 92,925,651 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,434 (GRCm39) |
|
probably null |
Het |
| Map1a |
CA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA |
2: 121,136,798 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA |
2: 121,136,792 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
C |
CCACCAA |
4: 134,006,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTTTTTT |
TTTTTTTTTGTTTTTT |
15: 44,421,898 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
TCTCTCTCTCTCTCT |
TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT |
10: 84,694,344 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,473 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTAGT |
GGTGGTAGTTGTGGTAGT |
7: 127,384,483 (GRCm39) |
|
probably benign |
Het |
| Six5 |
CGGA |
C |
7: 18,828,725 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CTGCTGCTGC |
CTGCTGCTGCTGC |
18: 60,968,795 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CCAGA |
CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA |
18: 60,966,640 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
ATCCCCTTGGC |
ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC |
18: 60,966,646 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGAAG |
17: 48,097,038 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCT |
TGCTGCTGCTGCTGCGGCTGCT |
15: 72,673,174 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGACGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Wdr97 |
AGGAGGAGG |
AG |
15: 76,247,365 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
GCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAG |
6: 125,013,446 (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 |
|
|
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'- TCAGGTTCATCCGTGCGATC -3'
(R):5'- ACTGCGTTGGGAAACAAATCATC -3'
Sequencing Primer
(F):5'- TTCATCCGTGCGATCCGAGG -3'
(R):5'- GCGTTGGGAAACAAATCATCTTTTCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation