Incidental Mutation 'R3608:Speer4f2'
| ID |
269153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Speer4f2
|
| Ensembl Gene |
ENSMUSG00000091827 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4f2 |
| Synonyms |
Gm3535, Gm3495 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R3608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
17578184-17582990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17579492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 97
(T97K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166086]
|
| AlphaFold |
E9Q366 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166086
AA Change: T97K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: T97K
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gnt4 |
C |
A |
5: 123,648,838 (GRCm39) |
R68S |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,924,894 (GRCm39) |
L610P |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,291,831 (GRCm39) |
R1783S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,845,119 (GRCm39) |
I208N |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,668,844 (GRCm39) |
L127F |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,590,332 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,018,688 (GRCm39) |
N619K |
possibly damaging |
Het |
| Hamp2 |
T |
C |
7: 30,623,539 (GRCm39) |
T8A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,909 (GRCm39) |
N407K |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,148,393 (GRCm39) |
T391M |
probably benign |
Het |
| Mroh2a |
G |
T |
1: 88,172,717 (GRCm39) |
A829S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,840 (GRCm39) |
T204A |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,884,925 (GRCm39) |
D30E |
probably benign |
Het |
| Rtkn |
T |
A |
6: 83,127,016 (GRCm39) |
C328S |
probably damaging |
Het |
| Srd5a2 |
A |
G |
17: 74,334,026 (GRCm39) |
V131A |
probably benign |
Het |
| Tm9sf4 |
A |
G |
2: 153,020,897 (GRCm39) |
H35R |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,255,449 (GRCm39) |
D1412E |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,660,235 (GRCm39) |
V216I |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,910,154 (GRCm39) |
C126* |
probably null |
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 |
|
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 |
|
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'- GGCATGTATTCCTTCTCTGTAGACAG -3'
(R):5'- TCCTGACAAAGCTTCAGGCC -3'
Sequencing Primer
(F):5'- CTGTAGACAGTCTAAACTCTTTGC -3'
(R):5'- GGCCTTGCCTCTCCTTTAAAAAGTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation