Incidental Mutation 'R6585:Speer4f2'
| ID |
524329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Speer4f2
|
| Ensembl Gene |
ENSMUSG00000091827 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4f2 |
| Synonyms |
Gm3535, Gm3495 |
| MMRRC Submission |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
| Kcnj1 |
T |
C |
9: 32,308,557 (GRCm39) |
V307A |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
| Ms4a14 |
T |
A |
19: 11,281,009 (GRCm39) |
Q516H |
unknown |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
| Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
| Pramel15 |
C |
A |
4: 144,103,600 (GRCm39) |
L175F |
possibly damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
probably damaging |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly 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 |
|
R6553: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'- GAAATCTCATACTGGGACCAATCTC -3'
(R):5'- AATGGGGCCCAGGTATGTTC -3'
Sequencing Primer
(F):5'- CCAATCTCTTGGTGGTGTCATTAG -3'
(R):5'- CCCAGGTATGTTCTCATGGTATAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation