Incidental Mutation 'IGL00693:Speer2'
| ID |
14206 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer2
|
| Ensembl Gene |
ENSMUSG00000063163 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 2 |
| Synonyms |
SPEER-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL00693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
69653762-69660617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69657406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 79
(M79K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076500]
[ENSMUST00000164146]
[ENSMUST00000166256]
|
| AlphaFold |
E9Q9U2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076500
AA Change: M79K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: M79K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
51 |
137 |
6.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164146
|
| SMART Domains |
Protein: ENSMUSP00000126059
Gene: ENSMUSG00000063163
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
33 |
121 |
1.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166256
|
| SMART Domains |
Protein: ENSMUSP00000130270
Gene: ENSMUSG00000063163
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
1 |
49 |
2.3e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,677,410 (GRCm39) |
P404S |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
| Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,810,247 (GRCm39) |
E149G |
probably damaging |
Het |
| Hsd3b6 |
A |
C |
3: 98,713,594 (GRCm39) |
L235R |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
| Lsm14b |
A |
G |
2: 179,674,419 (GRCm39) |
N241D |
probably damaging |
Het |
| Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
| Pno1 |
A |
G |
11: 17,161,317 (GRCm39) |
L64P |
probably benign |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
| Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,389,156 (GRCm39) |
V136A |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Speer2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Speer2
|
APN |
16 |
69,658,539 (GRCm39) |
nonsense |
probably null |
|
|
IGL01694:Speer2
|
APN |
16 |
69,655,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01694:Speer2
|
APN |
16 |
69,655,000 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02738:Speer2
|
APN |
16 |
69,658,600 (GRCm39) |
missense |
probably benign |
|
|
IGL03024:Speer2
|
APN |
16 |
69,655,003 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03062:Speer2
|
APN |
16 |
69,654,865 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0054:Speer2
|
UTSW |
16 |
69,655,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1248:Speer2
|
UTSW |
16 |
69,653,955 (GRCm39) |
splice site |
probably null |
|
|
R1952:Speer2
|
UTSW |
16 |
69,654,052 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1993:Speer2
|
UTSW |
16 |
69,654,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1995:Speer2
|
UTSW |
16 |
69,654,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2063:Speer2
|
UTSW |
16 |
69,657,385 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2155:Speer2
|
UTSW |
16 |
69,657,485 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2216:Speer2
|
UTSW |
16 |
69,655,730 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4547:Speer2
|
UTSW |
16 |
69,655,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4548:Speer2
|
UTSW |
16 |
69,655,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4625:Speer2
|
UTSW |
16 |
69,655,642 (GRCm39) |
nonsense |
probably null |
|
|
R4692:Speer2
|
UTSW |
16 |
69,654,860 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4841:Speer2
|
UTSW |
16 |
69,654,988 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4842:Speer2
|
UTSW |
16 |
69,654,988 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5035:Speer2
|
UTSW |
16 |
69,654,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5133:Speer2
|
UTSW |
16 |
69,655,708 (GRCm39) |
missense |
probably null |
0.06 |
|
R5812:Speer2
|
UTSW |
16 |
69,655,783 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6348:Speer2
|
UTSW |
16 |
69,654,895 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6854:Speer2
|
UTSW |
16 |
69,655,775 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7446:Speer2
|
UTSW |
16 |
69,654,965 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8068:Speer2
|
UTSW |
16 |
69,657,412 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2012-12-06 |
Incidental Mutation