Incidental Mutation 'RF028:Spmap2l'
| ID |
604227 |
| 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 # |
RF028 (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 AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC
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: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
| Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
ATCGCTTTCCTCGTTTTCG |
ATCG |
2: 121,228,207 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
| Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTTCTT |
CTTATTCTT |
X: 74,043,606 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,623 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
CTCCTCCT |
C |
9: 21,192,367 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
| Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TTGTCTTGTCAGAATCACCTCCTGG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
|
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'- TTCTCAGGTTCATCCGTGCG -3'
(R):5'- CTGCGTTGGGAAACAAATCATC -3'
Sequencing Primer
(F):5'- TTCATCCGTGCGATCCGAG -3'
(R):5'- GCGTTGGGAAACAAATCATCTTTTCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation