Incidental Mutation 'R2331:Stra6l'
| ID |
245867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stra6l
|
| Ensembl Gene |
ENSMUSG00000028327 |
| Gene Name |
STRA6-like |
| Synonyms |
1300002K09Rik, Rbpr2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2331 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45848664-45887008 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 45858224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030011]
[ENSMUST00000107782]
[ENSMUST00000107783]
|
| AlphaFold |
Q9DBN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030011
|
| SMART Domains |
Protein: ENSMUSP00000030011
Gene: ENSMUSG00000028327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
13 |
602 |
8.7e-228 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107782
|
| SMART Domains |
Protein: ENSMUSP00000103411
Gene: ENSMUSG00000028327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
1 |
512 |
2.8e-221 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107783
|
| SMART Domains |
Protein: ENSMUSP00000103412
Gene: ENSMUSG00000028327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
12 |
603 |
1e-254 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128947
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
| Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
| Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
| Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
| Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
| Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
probably damaging |
Het |
|
| Other mutations in Stra6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Stra6l
|
APN |
4 |
45,864,864 (GRCm39) |
splice site |
probably null |
|
|
IGL02343:Stra6l
|
APN |
4 |
45,869,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02710:Stra6l
|
APN |
4 |
45,882,728 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02880:Stra6l
|
APN |
4 |
45,885,278 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03034:Stra6l
|
APN |
4 |
45,885,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03163:Stra6l
|
APN |
4 |
45,881,455 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03355:Stra6l
|
APN |
4 |
45,873,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
K2124:Stra6l
|
UTSW |
4 |
45,870,770 (GRCm39) |
splice site |
probably benign |
|
|
R0800:Stra6l
|
UTSW |
4 |
45,882,797 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1171:Stra6l
|
UTSW |
4 |
45,864,982 (GRCm39) |
missense |
probably benign |
|
|
R1931:Stra6l
|
UTSW |
4 |
45,882,698 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Stra6l
|
UTSW |
4 |
45,867,237 (GRCm39) |
nonsense |
probably null |
|
|
R4691:Stra6l
|
UTSW |
4 |
45,882,851 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4846:Stra6l
|
UTSW |
4 |
45,873,682 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5175:Stra6l
|
UTSW |
4 |
45,870,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5633:Stra6l
|
UTSW |
4 |
45,881,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6212:Stra6l
|
UTSW |
4 |
45,884,664 (GRCm39) |
missense |
probably benign |
|
|
R6517:Stra6l
|
UTSW |
4 |
45,879,473 (GRCm39) |
missense |
probably benign |
|
|
R6534:Stra6l
|
UTSW |
4 |
45,860,041 (GRCm39) |
splice site |
probably null |
|
|
R6584:Stra6l
|
UTSW |
4 |
45,869,635 (GRCm39) |
splice site |
probably null |
|
|
R7763:Stra6l
|
UTSW |
4 |
45,869,570 (GRCm39) |
nonsense |
probably null |
|
|
R8400:Stra6l
|
UTSW |
4 |
45,864,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Stra6l
|
UTSW |
4 |
45,885,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9007:Stra6l
|
UTSW |
4 |
45,864,910 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9313:Stra6l
|
UTSW |
4 |
45,881,454 (GRCm39) |
missense |
probably benign |
|
|
R9379:Stra6l
|
UTSW |
4 |
45,849,093 (GRCm39) |
missense |
probably benign |
|
|
R9400:Stra6l
|
UTSW |
4 |
45,885,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Stra6l
|
UTSW |
4 |
45,884,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTTCACTTAGGAAGACAGTG -3'
(R):5'- AAAAGCTGTGTGGTGGAGCC -3'
Sequencing Primer
(F):5'- GGAAGTTCAGATGCTCCAAACTTCTG -3'
(R):5'- TGTGGTGGAGCCTCCCAAATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation