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: 0.110)
|
| Stock # |
R5812 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
69856874-69863744 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69858895 bp (GRCm38)
|
| 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: 138,176,538 (GRCm38) |
S9P |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,294,836 (GRCm38) |
V615I |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,426,853 (GRCm38) |
K47E |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 122,893,805 (GRCm38) |
|
probably null |
Het |
| Bcl9l |
T |
C |
9: 44,506,644 (GRCm38) |
V593A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,376,685 (GRCm38) |
I1271V |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,684,304 (GRCm38) |
W152R |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,851,737 (GRCm38) |
V1606A |
possibly damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,401,384 (GRCm38) |
N255S |
probably benign |
Het |
| Cxxc5 |
T |
A |
18: 35,859,056 (GRCm38) |
V170E |
probably damaging |
Het |
| Defb6 |
C |
T |
8: 19,228,094 (GRCm38) |
R61C |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,747,746 (GRCm38) |
N655K |
probably benign |
Het |
| Fry |
G |
A |
5: 150,399,671 (GRCm38) |
A1096T |
probably damaging |
Het |
| Gli1 |
C |
T |
10: 127,337,415 (GRCm38) |
G125S |
probably damaging |
Het |
| Gm5538 |
T |
A |
3: 59,747,272 (GRCm38) |
Y176N |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,896,440 (GRCm38) |
I51F |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,233,977 (GRCm38) |
S87P |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,405,929 (GRCm38) |
I504N |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,735,205 (GRCm38) |
I136T |
probably damaging |
Het |
| March4 |
T |
C |
1: 72,428,917 (GRCm38) |
T319A |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,943,418 (GRCm38) |
|
probably benign |
Het |
| Nt5e |
T |
C |
9: 88,369,055 (GRCm38) |
V459A |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,332,865 (GRCm38) |
K257E |
probably damaging |
Het |
| Olfr1 |
AGCGGTCGTAGGC |
AGC |
11: 73,395,654 (GRCm38) |
|
probably null |
Het |
| Olfr117 |
A |
G |
17: 37,659,739 (GRCm38) |
L198P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,837,059 (GRCm38) |
V378D |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,490,484 (GRCm38) |
R289Q |
probably benign |
Het |
| Pdzd7 |
G |
T |
19: 45,036,871 (GRCm38) |
T395K |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,957,143 (GRCm38) |
D35G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,141,577 (GRCm38) |
F770L |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 30,975,461 (GRCm38) |
C157F |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,256,473 (GRCm38) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,513,338 (GRCm38) |
|
probably null |
Het |
| Tas2r105 |
C |
A |
6: 131,686,873 (GRCm38) |
L197F |
possibly damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,665,098 (GRCm38) |
H113L |
possibly damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,822,559 (GRCm38) |
P64S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,804,537 (GRCm38) |
H115Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,982,495 (GRCm38) |
|
probably benign |
Het |
| Zbtb39 |
T |
A |
10: 127,741,560 (GRCm38) |
M1K |
probably null |
Het |
|
| Other mutations in Speer2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Speer2
|
APN |
16 |
69,860,518 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01115:Speer2
|
APN |
16 |
69,861,651 (GRCm38) |
nonsense |
probably null |
|
|
IGL01694:Speer2
|
APN |
16 |
69,858,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01694:Speer2
|
APN |
16 |
69,858,112 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02738:Speer2
|
APN |
16 |
69,861,712 (GRCm38) |
missense |
probably benign |
|
|
IGL03024:Speer2
|
APN |
16 |
69,858,115 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03062:Speer2
|
APN |
16 |
69,857,977 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0054:Speer2
|
UTSW |
16 |
69,858,752 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1248:Speer2
|
UTSW |
16 |
69,857,067 (GRCm38) |
splice site |
probably null |
|
|
R1952:Speer2
|
UTSW |
16 |
69,857,164 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1993:Speer2
|
UTSW |
16 |
69,858,077 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1995:Speer2
|
UTSW |
16 |
69,858,077 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2063:Speer2
|
UTSW |
16 |
69,860,497 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2155:Speer2
|
UTSW |
16 |
69,860,597 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2216:Speer2
|
UTSW |
16 |
69,858,842 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4547:Speer2
|
UTSW |
16 |
69,858,849 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4548:Speer2
|
UTSW |
16 |
69,858,849 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4625:Speer2
|
UTSW |
16 |
69,858,754 (GRCm38) |
nonsense |
probably null |
|
|
R4692:Speer2
|
UTSW |
16 |
69,857,972 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4841:Speer2
|
UTSW |
16 |
69,858,100 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4842:Speer2
|
UTSW |
16 |
69,858,100 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5035:Speer2
|
UTSW |
16 |
69,857,941 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5133:Speer2
|
UTSW |
16 |
69,858,820 (GRCm38) |
missense |
probably null |
0.06 |
|
R6348:Speer2
|
UTSW |
16 |
69,858,007 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6854:Speer2
|
UTSW |
16 |
69,858,887 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7446:Speer2
|
UTSW |
16 |
69,858,077 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8068:Speer2
|
UTSW |
16 |
69,860,524 (GRCm38) |
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 |
Incidental Mutation