Incidental Mutation 'R4548:Speer2'
| ID |
333882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Speer2
|
| Ensembl Gene |
ENSMUSG00000063163 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 2 |
| Synonyms |
SPEER-2 |
| MMRRC Submission |
041594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
69653762-69660617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69655737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 30
(K30E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076500]
[ENSMUST00000164146]
[ENSMUST00000166256]
|
| AlphaFold |
E9Q9U2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076500
AA Change: K119E
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: K119E
| 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 damaging
Transcript: ENSMUST00000166256
AA Change: K30E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130270
Gene: ENSMUSG00000063163
AA Change: K30E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
1 |
49 |
2.3e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
| Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
| Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
| Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
| Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
| Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
| Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAGATTCTCCAGTCCAG -3'
(R):5'- GAACCCTCCATCTTGATGCTTAG -3'
Sequencing Primer
(F):5'- GATTCTCCAGTCCAGAAACCAAGG -3'
(R):5'- CTGGACCAGGATAACACATTTTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation