Incidental Mutation 'R1035:Spmap2'
| ID |
95549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spmap2
|
| Ensembl Gene |
ENSMUSG00000020317 |
| Gene Name |
sperm microtubule associated protein 2 |
| Synonyms |
Theg |
| MMRRC Submission |
039134-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79412311-79422970 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79419684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 182
(T182M)
|
| 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: T206M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020566
Gene: ENSMUSG00000020317
AA Change: T206M
| 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: T182M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076647
Gene: ENSMUSG00000020317
AA Change: T182M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.4%
|
| Validation Efficiency |
97% (36/37) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,113,659 (GRCm39) |
L850Q |
unknown |
Het |
| Asxl3 |
T |
C |
18: 22,658,106 (GRCm39) |
S2039P |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,612,235 (GRCm39) |
M109K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,011 (GRCm39) |
N933S |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,883,989 (GRCm39) |
N77S |
possibly damaging |
Het |
| Chek1 |
A |
G |
9: 36,627,769 (GRCm39) |
I256T |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,704,795 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,616,473 (GRCm39) |
S360L |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,167,202 (GRCm39) |
S222P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,608 (GRCm39) |
I471V |
probably benign |
Het |
| Ear2 |
A |
T |
14: 44,340,344 (GRCm39) |
M1L |
possibly damaging |
Het |
| Entpd6 |
T |
A |
2: 150,606,112 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam98b |
C |
T |
2: 117,101,120 (GRCm39) |
R311W |
possibly damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,347 (GRCm39) |
C102S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,401,384 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
C |
T |
7: 26,070,702 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,238 (GRCm39) |
S688P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,944,900 (GRCm39) |
F1319L |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,579,803 (GRCm39) |
Y446H |
unknown |
Het |
| Stk17b |
T |
C |
1: 53,801,758 (GRCm39) |
T88A |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,199 (GRCm39) |
I10F |
probably benign |
Het |
| Tmprss12 |
G |
A |
15: 100,183,081 (GRCm39) |
R141Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,961,527 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
A |
G |
14: 45,410,020 (GRCm39) |
S187P |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,011 (GRCm39) |
I671T |
possibly damaging |
Het |
| Zfp78 |
G |
T |
7: 6,381,660 (GRCm39) |
V237F |
probably 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 |
|
|
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 |
|
R6138: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'- TGTCAGATGACCTAGTGAACCCCAC -3'
(R):5'- GCGGAGATAGCTCCCGATTTTACC -3'
Sequencing Primer
(F):5'- TCTCACCTGAATTTAAAGGCAGC -3'
(R):5'- AGGGTAGTCACTTCCCTAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation