Incidental Mutation 'R6138:Spmap2'
ID |
488453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spmap2
|
Ensembl Gene |
ENSMUSG00000020317 |
Gene Name |
sperm microtubule associated protein 2 |
Synonyms |
Theg |
MMRRC Submission |
044285-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6138 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79412311-79422970 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79420589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 159
(S159P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020566]
[ENSMUST00000077433]
|
AlphaFold |
Q9JMB1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020566
AA Change: S183P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020566 Gene: ENSMUSG00000020317 AA Change: S183P
Domain | Start | End | E-Value | Type |
THEG
|
9 |
28 |
1.68e2 |
SMART |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
THEG
|
110 |
129 |
2.22e-2 |
SMART |
THEG
|
176 |
195 |
4.69e-1 |
SMART |
THEG
|
214 |
233 |
9.16e-4 |
SMART |
THEG
|
250 |
269 |
7.22e-2 |
SMART |
THEG
|
282 |
301 |
2.31e0 |
SMART |
THEG
|
318 |
337 |
4.45e-2 |
SMART |
THEG
|
352 |
371 |
1.96e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077433
AA Change: S159P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076647 Gene: ENSMUSG00000020317 AA Change: S159P
Domain | Start | End | E-Value | Type |
THEG
|
9 |
28 |
6.2e-1 |
SMART |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
THEG
|
110 |
129 |
7.8e-5 |
SMART |
THEG
|
152 |
171 |
1.7e-3 |
SMART |
THEG
|
190 |
209 |
3.3e-6 |
SMART |
THEG
|
226 |
245 |
2.5e-4 |
SMART |
THEG
|
258 |
277 |
8.3e-3 |
SMART |
THEG
|
294 |
313 |
1.6e-4 |
SMART |
THEG
|
328 |
347 |
7e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159782
|
Meta Mutation Damage Score |
0.1892 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (31/31) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] PHENOTYPE: Males homozygotes for a transgenic insertional mutation are sterile due to a block in spermiogenesis. Testis weights are reduced, and mutants exhibit multiple abnormalities in elongated spermatids in the seminiferous tubule lumen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,117,924 (GRCm39) |
|
probably null |
Het |
Ccr6 |
G |
A |
17: 8,475,214 (GRCm39) |
V140I |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,556,417 (GRCm39) |
|
probably null |
Het |
Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
Gk5 |
C |
T |
9: 96,058,290 (GRCm39) |
Q424* |
probably null |
Het |
Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
Pramel27 |
T |
G |
4: 143,578,155 (GRCm39) |
H87Q |
possibly damaging |
Het |
Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
Other mutations in Spmap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Spmap2
|
APN |
10 |
79,412,433 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02013:Spmap2
|
APN |
10 |
79,415,769 (GRCm39) |
splice site |
probably null |
|
R0087:Spmap2
|
UTSW |
10 |
79,421,785 (GRCm39) |
nonsense |
probably null |
|
R1035:Spmap2
|
UTSW |
10 |
79,419,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R4133:Spmap2
|
UTSW |
10 |
79,415,884 (GRCm39) |
missense |
probably damaging |
0.97 |
R5960:Spmap2
|
UTSW |
10 |
79,421,765 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5971:Spmap2
|
UTSW |
10 |
79,420,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6067:Spmap2
|
UTSW |
10 |
79,420,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6357:Spmap2
|
UTSW |
10 |
79,422,789 (GRCm39) |
missense |
probably benign |
0.28 |
R7046:Spmap2
|
UTSW |
10 |
79,422,796 (GRCm39) |
missense |
probably benign |
0.35 |
R7117:Spmap2
|
UTSW |
10 |
79,420,741 (GRCm39) |
splice site |
probably null |
|
R7463:Spmap2
|
UTSW |
10 |
79,412,549 (GRCm39) |
missense |
probably damaging |
0.99 |
R8441:Spmap2
|
UTSW |
10 |
79,412,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R8739:Spmap2
|
UTSW |
10 |
79,419,581 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8883:Spmap2
|
UTSW |
10 |
79,412,474 (GRCm39) |
missense |
probably benign |
0.10 |
R9060:Spmap2
|
UTSW |
10 |
79,420,571 (GRCm39) |
missense |
probably damaging |
1.00 |
U15987:Spmap2
|
UTSW |
10 |
79,420,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGACTGCTAAGGGACATTGG -3'
(R):5'- GCCTCTTAGGTTTAACCATGGGG -3'
Sequencing Primer
(F):5'- GACATTGGCTAGACCTCTTGAGAC -3'
(R):5'- GGAAGGAGCCAGTCTTGTC -3'
|
Posted On |
2017-10-10 |