Incidental Mutation 'IGL02877:Spem2'
| ID |
362662 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spem2
|
| Ensembl Gene |
ENSMUSG00000044084 |
| Gene Name |
SPEM family member 2 |
| Synonyms |
4933402P03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69707392-69709291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 69708521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 148
(H148P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045771]
[ENSMUST00000056941]
[ENSMUST00000210714]
|
| AlphaFold |
Q8C5U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045771
|
| SMART Domains |
Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spem1
|
12 |
196 |
3.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056941
AA Change: H148P
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: H148P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spem1
|
1 |
261 |
2e-121 |
PFAM |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210714
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,078,875 (GRCm39) |
Y712* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,118,970 (GRCm39) |
D1107G |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,727,876 (GRCm39) |
T504K |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,880,533 (GRCm39) |
C160Y |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,629,050 (GRCm39) |
S586P |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,882,550 (GRCm39) |
T1199S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cnot8 |
A |
G |
11: 58,002,228 (GRCm39) |
E87G |
probably benign |
Het |
| Crnkl1 |
C |
A |
2: 145,762,591 (GRCm39) |
E525* |
probably null |
Het |
| Eif2d |
T |
C |
1: 131,092,854 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,979,388 (GRCm39) |
S416P |
probably damaging |
Het |
| Glcci1 |
T |
C |
6: 8,582,757 (GRCm39) |
S373P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,327 (GRCm39) |
R905G |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,766,450 (GRCm39) |
V706A |
unknown |
Het |
| Ift74 |
T |
C |
4: 94,513,018 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,919,312 (GRCm39) |
N1821K |
probably benign |
Het |
| Msx1 |
G |
A |
5: 37,981,344 (GRCm39) |
P112S |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,882,968 (GRCm39) |
D409G |
probably benign |
Het |
| Nsmf |
A |
T |
2: 24,945,968 (GRCm39) |
I152F |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,867 (GRCm39) |
I322N |
probably damaging |
Het |
| Or7g27 |
T |
C |
9: 19,250,497 (GRCm39) |
V247A |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,248 (GRCm39) |
T49A |
probably benign |
Het |
| Ptx3 |
A |
G |
3: 66,132,196 (GRCm39) |
Y239C |
probably damaging |
Het |
| Rarg |
G |
T |
15: 102,150,374 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
G |
A |
3: 63,850,806 (GRCm39) |
T506I |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,942,581 (GRCm39) |
D961G |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
|
| Other mutations in Spem2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Spem2
|
APN |
11 |
69,708,065 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02208:Spem2
|
APN |
11 |
69,708,089 (GRCm39) |
splice site |
probably null |
|
|
IGL02315:Spem2
|
APN |
11 |
69,708,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02325:Spem2
|
APN |
11 |
69,707,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1476:Spem2
|
UTSW |
11 |
69,708,896 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1928:Spem2
|
UTSW |
11 |
69,708,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3741:Spem2
|
UTSW |
11 |
69,707,556 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3811:Spem2
|
UTSW |
11 |
69,707,990 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4271:Spem2
|
UTSW |
11 |
69,708,251 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4717:Spem2
|
UTSW |
11 |
69,708,609 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4997:Spem2
|
UTSW |
11 |
69,708,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5114:Spem2
|
UTSW |
11 |
69,707,973 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6137:Spem2
|
UTSW |
11 |
69,707,522 (GRCm39) |
nonsense |
probably null |
|
|
R6302:Spem2
|
UTSW |
11 |
69,709,091 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6454:Spem2
|
UTSW |
11 |
69,708,254 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6923:Spem2
|
UTSW |
11 |
69,708,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7000:Spem2
|
UTSW |
11 |
69,708,582 (GRCm39) |
missense |
probably benign |
|
|
R8516:Spem2
|
UTSW |
11 |
69,707,721 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9132:Spem2
|
UTSW |
11 |
69,707,414 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation