Incidental Mutation 'IGL00927:Spmap2'
| ID |
28337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spmap2
|
| Ensembl Gene |
ENSMUSG00000020317 |
| Gene Name |
sperm microtubule associated protein 2 |
| Synonyms |
Theg |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79412311-79422970 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79412433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 329
(S329P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020566]
[ENSMUST00000077433]
|
| AlphaFold |
Q9JMB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020566
AA Change: S353P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020566
Gene: ENSMUSG00000020317
AA Change: S353P
| 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: S329P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076647
Gene: ENSMUSG00000020317
AA Change: S329P
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
| Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
| Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
| Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
| Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
| Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
| Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
| Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
| Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Spmap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation