Incidental Mutation 'R6348:Speer2'
| ID |
514459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Speer2
|
| Ensembl Gene |
ENSMUSG00000063163 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 2 |
| Synonyms |
SPEER-2 |
| MMRRC Submission |
044502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R6348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
69653762-69660617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69654895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 190
(D190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076500]
[ENSMUST00000164146]
[ENSMUST00000166256]
|
| AlphaFold |
E9Q9U2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076500
AA Change: D190G
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: D190G
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
| Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
| Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
| Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
| Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
| Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
| Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
| Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
| Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
| Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
| Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
| Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
probably benign |
Het |
|
| Other mutations in Speer2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Speer2
|
APN |
16 |
69,657,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCACAAGAGGCTAACTTCCC -3'
(R):5'- GGGGTTAATGGGCCTATACATAC -3'
Sequencing Primer
(F):5'- CAACTGCATTCCATGAGGTG -3'
(R):5'- ATGGGCCTATACATACTAATGAGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation