Incidental Mutation 'R5812:Speer2'
ID |
447576 |
Institutional Source |
Beutler Lab
|
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 # |
R5812 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
69653762-69660617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 69655783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 14
(R14S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076500]
[ENSMUST00000164146]
[ENSMUST00000166256]
|
AlphaFold |
E9Q9U2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076500
AA Change: R103S
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000075821 Gene: ENSMUSG00000063163 AA Change: R103S
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 |
possibly damaging
Transcript: ENSMUST00000166256
AA Change: R14S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130270 Gene: ENSMUSG00000063163 AA Change: R14S
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
1 |
49 |
2.3e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
A |
G |
3: 137,882,299 (GRCm39) |
S9P |
probably damaging |
Het |
Aadacl2fm2 |
T |
A |
3: 59,654,693 (GRCm39) |
Y176N |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,283,268 (GRCm39) |
V615I |
probably benign |
Het |
Ankk1 |
T |
C |
9: 49,338,153 (GRCm39) |
K47E |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,620,544 (GRCm39) |
|
probably null |
Het |
Bcl9l |
T |
C |
9: 44,417,941 (GRCm39) |
V593A |
probably benign |
Het |
Cadps |
T |
C |
14: 12,376,685 (GRCm38) |
I1271V |
probably benign |
Het |
Ccdc125 |
T |
C |
13: 100,820,812 (GRCm39) |
W152R |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,984,808 (GRCm39) |
V1606A |
possibly damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
Cxxc5 |
T |
A |
18: 35,992,109 (GRCm39) |
V170E |
probably damaging |
Het |
Defb6 |
C |
T |
8: 19,278,110 (GRCm39) |
R61C |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,824,810 (GRCm39) |
N655K |
probably benign |
Het |
Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
Gli1 |
C |
T |
10: 127,173,284 (GRCm39) |
G125S |
probably damaging |
Het |
Igkv14-126 |
A |
T |
6: 67,873,424 (GRCm39) |
I51F |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jtb |
T |
C |
3: 90,141,284 (GRCm39) |
S87P |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,296,755 (GRCm39) |
I504N |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
Marchf4 |
T |
C |
1: 72,468,076 (GRCm39) |
T319A |
probably benign |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Nt5e |
T |
C |
9: 88,251,108 (GRCm39) |
V459A |
probably damaging |
Het |
Ogdhl |
A |
G |
14: 32,054,822 (GRCm39) |
K257E |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2g25 |
A |
G |
17: 37,970,630 (GRCm39) |
L198P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,866,540 (GRCm39) |
V378D |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pdzd7 |
G |
T |
19: 45,025,310 (GRCm39) |
T395K |
probably damaging |
Het |
Rasgef1c |
A |
G |
11: 49,847,970 (GRCm39) |
D35G |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,279,642 (GRCm39) |
F770L |
probably damaging |
Het |
Rit2 |
C |
A |
18: 31,108,514 (GRCm39) |
C157F |
probably damaging |
Het |
Slc22a22 |
A |
G |
15: 57,119,869 (GRCm39) |
|
probably null |
Het |
Slc8b1 |
T |
C |
5: 120,651,403 (GRCm39) |
|
probably null |
Het |
Tas2r105 |
C |
A |
6: 131,663,836 (GRCm39) |
L197F |
possibly damaging |
Het |
Tmprss11b |
T |
A |
5: 86,812,957 (GRCm39) |
H113L |
possibly damaging |
Het |
Ttbk2 |
G |
A |
2: 120,653,040 (GRCm39) |
P64S |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,889,777 (GRCm39) |
|
probably benign |
Het |
Zbtb39 |
T |
A |
10: 127,577,429 (GRCm39) |
M1K |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAATTGCCATTCCACTGTTGATTG -3'
(R):5'- ACCCTACTGCGTGAACACAG -3'
Sequencing Primer
(F):5'- ATTGGCTTGCTAACTGGTACTTAC -3'
(R):5'- GGAACCCTCCATCTTGATGCTTAG -3'
|
Posted On |
2016-12-15 |