Incidental Mutation 'R6553:Speer4f2'
ID |
521772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Speer4f2
|
Ensembl Gene |
ENSMUSG00000091827 |
Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4f2 |
Synonyms |
Gm3535, Gm3495 |
MMRRC Submission |
044678-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R6553 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
17578184-17582990 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17579420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 73
(E73G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166086]
|
AlphaFold |
E9Q366 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166086
AA Change: E73G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129818 Gene: ENSMUSG00000091827 AA Change: E73G
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
34 |
112 |
9.6e-20 |
PFAM |
low complexity region
|
208 |
253 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
Asic5 |
A |
T |
3: 81,916,773 (GRCm39) |
T288S |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,945,692 (GRCm39) |
N72S |
probably benign |
Het |
Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
Cyp2c50 |
A |
G |
19: 40,079,046 (GRCm39) |
T130A |
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,908,975 (GRCm39) |
V1196E |
probably damaging |
Het |
Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
Exph5 |
A |
G |
9: 53,213,012 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
Gm2888 |
A |
G |
14: 3,037,722 (GRCm38) |
H238R |
possibly damaging |
Het |
Gm5622 |
A |
G |
14: 51,895,200 (GRCm39) |
K120E |
probably damaging |
Het |
Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,126,558 (GRCm39) |
V245A |
probably damaging |
Het |
Kmt2e |
G |
A |
5: 23,668,024 (GRCm39) |
V28I |
probably damaging |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
Or6c6c |
C |
T |
10: 129,540,932 (GRCm39) |
R62C |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Trav13n-3 |
A |
G |
14: 53,574,618 (GRCm39) |
T14A |
probably benign |
Het |
Trav9d-4 |
A |
T |
14: 53,221,198 (GRCm39) |
Q63L |
probably benign |
Het |
Vmn2r75 |
T |
A |
7: 85,813,453 (GRCm39) |
N450Y |
probably benign |
Het |
Vmn2r97 |
G |
A |
17: 19,150,566 (GRCm39) |
W471* |
probably null |
Het |
Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
Zpld2 |
A |
G |
4: 133,929,367 (GRCm39) |
S313P |
probably damaging |
Het |
|
Other mutations in Speer4f2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01505:Speer4f2
|
APN |
5 |
17,581,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02092:Speer4f2
|
APN |
5 |
17,581,627 (GRCm39) |
nonsense |
probably null |
|
IGL03100:Speer4f2
|
APN |
5 |
17,581,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R0939:Speer4f2
|
UTSW |
5 |
17,579,402 (GRCm39) |
missense |
probably damaging |
0.99 |
R1384:Speer4f2
|
UTSW |
5 |
17,579,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R1528:Speer4f2
|
UTSW |
5 |
17,581,540 (GRCm39) |
missense |
|
|
R1873:Speer4f2
|
UTSW |
5 |
17,579,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R3608:Speer4f2
|
UTSW |
5 |
17,579,492 (GRCm39) |
missense |
probably benign |
0.03 |
R4972:Speer4f2
|
UTSW |
5 |
17,579,423 (GRCm39) |
missense |
probably benign |
0.27 |
R5421:Speer4f2
|
UTSW |
5 |
17,579,356 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5450:Speer4f2
|
UTSW |
5 |
17,578,217 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5452:Speer4f2
|
UTSW |
5 |
17,581,498 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5531:Speer4f2
|
UTSW |
5 |
17,581,526 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5924:Speer4f2
|
UTSW |
5 |
17,581,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Speer4f2
|
UTSW |
5 |
17,579,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R6585:Speer4f2
|
UTSW |
5 |
17,579,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Speer4f2
|
UTSW |
5 |
17,580,767 (GRCm39) |
missense |
probably benign |
0.05 |
R6878:Speer4f2
|
UTSW |
5 |
17,580,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R7089:Speer4f2
|
UTSW |
5 |
17,581,661 (GRCm39) |
missense |
|
|
R7129:Speer4f2
|
UTSW |
5 |
17,582,446 (GRCm39) |
missense |
|
|
R7448:Speer4f2
|
UTSW |
5 |
17,581,540 (GRCm39) |
missense |
|
|
R7654:Speer4f2
|
UTSW |
5 |
17,579,413 (GRCm39) |
missense |
|
|
R7942:Speer4f2
|
UTSW |
5 |
17,582,630 (GRCm39) |
missense |
unknown |
|
R8170:Speer4f2
|
UTSW |
5 |
17,579,459 (GRCm39) |
missense |
|
|
R8409:Speer4f2
|
UTSW |
5 |
17,582,419 (GRCm39) |
missense |
|
|
R9154:Speer4f2
|
UTSW |
5 |
17,581,610 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTAGAACTGAGATCCACTGAG -3'
(R):5'- ATGGTATAGCTTCCCACAACCC -3'
Sequencing Primer
(F):5'- AATCTCATACTGGGACCAATCTCTTG -3'
(R):5'- CACCCCTTTAAAAGCATAAGATAAGG -3'
|
Posted On |
2018-06-06 |