Incidental Mutation 'IGL03301:Speer3'
| ID |
416210 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Speer3
|
| Ensembl Gene |
ENSMUSG00000067855 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 3 |
| Synonyms |
4933405P08Rik, SPEER-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
13841633-13846833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13845447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 160
(L160H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124677]
|
| AlphaFold |
W4VSP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124677
AA Change: L160H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: L160H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
134 |
2.3e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199961
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,855,263 (GRCm39) |
E418G |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,276 (GRCm39) |
F141S |
probably damaging |
Het |
| C1s1 |
A |
T |
6: 124,518,283 (GRCm39) |
|
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,499 (GRCm39) |
V1198A |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,055,039 (GRCm39) |
I129K |
probably benign |
Het |
| Ctdp1 |
G |
A |
18: 80,492,849 (GRCm39) |
Q549* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,549 (GRCm39) |
I250F |
possibly damaging |
Het |
| Dmd |
G |
A |
X: 82,952,120 (GRCm39) |
R1765Q |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,014,649 (GRCm39) |
G1739R |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,714,083 (GRCm39) |
K1350E |
probably benign |
Het |
| Ephx4 |
C |
A |
5: 107,574,730 (GRCm39) |
T256K |
probably benign |
Het |
| Fnd3c2 |
G |
T |
X: 105,295,869 (GRCm39) |
Q49K |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,086 (GRCm39) |
G1889W |
probably damaging |
Het |
| Igkv19-93 |
A |
T |
6: 68,713,465 (GRCm39) |
W55R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,032,370 (GRCm39) |
Y412C |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,155,382 (GRCm39) |
N261I |
probably damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,164 (GRCm39) |
N172D |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,824,503 (GRCm39) |
N293S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,160,775 (GRCm39) |
S2294P |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,574,052 (GRCm39) |
V262D |
probably damaging |
Het |
| Rhox7a |
A |
G |
X: 36,928,888 (GRCm39) |
T235A |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,351,944 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc22a2 |
A |
G |
17: 12,824,926 (GRCm39) |
R263G |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,557 (GRCm39) |
M377V |
possibly damaging |
Het |
| Tsen2 |
T |
G |
6: 115,545,732 (GRCm39) |
Y341D |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,305,955 (GRCm39) |
V541D |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,445,221 (GRCm39) |
|
probably null |
Het |
| Zfp711 |
T |
C |
X: 111,543,098 (GRCm39) |
Y710H |
probably damaging |
Het |
| Zmiz2 |
C |
T |
11: 6,351,170 (GRCm39) |
T566M |
probably damaging |
Het |
|
| Other mutations in Speer3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Speer3
|
APN |
5 |
13,843,236 (GRCm39) |
nonsense |
probably null |
|
|
IGL02730:Speer3
|
APN |
5 |
13,843,285 (GRCm39) |
missense |
probably benign |
|
|
IGL03192:Speer3
|
APN |
5 |
13,841,702 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1623:Speer3
|
UTSW |
5 |
13,846,335 (GRCm39) |
missense |
probably benign |
|
|
R3028:Speer3
|
UTSW |
5 |
13,845,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4091:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4092:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4368:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4369:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4405:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4450:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4509:Speer3
|
UTSW |
5 |
13,846,368 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4594:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4702:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5096:Speer3
|
UTSW |
5 |
13,846,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5508:Speer3
|
UTSW |
5 |
13,844,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5583:Speer3
|
UTSW |
5 |
13,844,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6061:Speer3
|
UTSW |
5 |
13,844,705 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6337:Speer3
|
UTSW |
5 |
13,843,369 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6518:Speer3
|
UTSW |
5 |
13,845,462 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7503:Speer3
|
UTSW |
5 |
13,843,348 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9456:Speer3
|
UTSW |
5 |
13,846,368 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation