Incidental Mutation 'R6534:Stra6l'
ID |
520257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stra6l
|
Ensembl Gene |
ENSMUSG00000028327 |
Gene Name |
STRA6-like |
Synonyms |
1300002K09Rik, Rbpr2 |
MMRRC Submission |
044660-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6534 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
45848664-45887008 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 45860041 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
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 |
|
R2331:Stra6l
|
UTSW |
4 |
45,858,224 (GRCm39) |
critical splice donor site |
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 |
|
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'- TCCTCATAGGGGACACTGAG -3'
(R):5'- CTTGAGAAGTTTCTGGGCAGCC -3'
Sequencing Primer
(F):5'- ACTATTCTCTCCTCACAGGGGGAC -3'
(R):5'- AGCCCTGGGTGCTGATG -3'
|
Posted On |
2018-06-06 |