Incidental Mutation 'R6531:4930590J08Rik'
ID |
522347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930590J08Rik
|
Ensembl Gene |
ENSMUSG00000034063 |
Gene Name |
RIKEN cDNA 4930590J08 gene |
Synonyms |
LOC381798 |
MMRRC Submission |
044657-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6531 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
91879790-91927706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91926980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 880
(E880G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059318]
[ENSMUST00000205686]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059318
AA Change: E880G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000053778 Gene: ENSMUSG00000034063 AA Change: E880G
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
109 |
N/A |
INTRINSIC |
Pfam:FAM194
|
357 |
561 |
4.1e-68 |
PFAM |
low complexity region
|
626 |
637 |
N/A |
INTRINSIC |
transmembrane domain
|
774 |
796 |
N/A |
INTRINSIC |
low complexity region
|
891 |
909 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205569
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205686
AA Change: E880G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.6%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg2 |
T |
A |
17: 57,153,617 (GRCm39) |
I529F |
probably damaging |
Het |
Ahcyl2 |
T |
G |
6: 29,886,161 (GRCm39) |
M359R |
probably benign |
Het |
Aldh5a1 |
G |
T |
13: 25,102,547 (GRCm39) |
D305E |
probably benign |
Het |
Catsper2 |
C |
G |
2: 121,230,261 (GRCm39) |
V358L |
possibly damaging |
Het |
Cd200r4 |
C |
T |
16: 44,653,868 (GRCm39) |
Q222* |
probably null |
Het |
Col4a2 |
T |
A |
8: 11,458,135 (GRCm39) |
D270E |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,303,973 (GRCm39) |
D1401G |
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,035,027 (GRCm39) |
M235K |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,844,415 (GRCm39) |
D895G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,584,354 (GRCm39) |
F586L |
probably damaging |
Het |
Elmo1 |
G |
T |
13: 20,756,616 (GRCm39) |
R568L |
possibly damaging |
Het |
Epb41 |
T |
C |
4: 131,684,947 (GRCm39) |
T711A |
probably benign |
Het |
Grm7 |
T |
A |
6: 111,335,386 (GRCm39) |
M599K |
probably benign |
Het |
Hivep3 |
A |
T |
4: 119,980,073 (GRCm39) |
K1704* |
probably null |
Het |
Ighv1-62-3 |
C |
A |
12: 115,424,626 (GRCm39) |
C115F |
probably damaging |
Het |
Krt78 |
A |
G |
15: 101,860,708 (GRCm39) |
Y200H |
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,360,925 (GRCm39) |
H549L |
possibly damaging |
Het |
Mroh3 |
A |
G |
1: 136,112,091 (GRCm39) |
I759T |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Nol6 |
G |
T |
4: 41,118,154 (GRCm39) |
P828T |
probably benign |
Het |
Or1j15 |
G |
A |
2: 36,459,353 (GRCm39) |
V248I |
probably damaging |
Het |
Or4c3 |
A |
G |
2: 89,851,801 (GRCm39) |
V203A |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,814,651 (GRCm39) |
I156V |
probably benign |
Het |
Or8w1 |
A |
G |
2: 87,465,873 (GRCm39) |
Y73H |
probably damaging |
Het |
Ovgp1 |
A |
C |
3: 105,894,387 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,962,313 (GRCm39) |
Q230L |
possibly damaging |
Het |
Pkn1 |
C |
T |
8: 84,396,922 (GRCm39) |
V910I |
probably benign |
Het |
Plcb1 |
T |
A |
2: 135,167,722 (GRCm39) |
|
probably null |
Het |
Ppp1r12c |
A |
G |
7: 4,485,788 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
A |
1: 131,172,551 (GRCm39) |
Q106L |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,470,322 (GRCm39) |
K62E |
possibly damaging |
Het |
Sf3b1 |
C |
T |
1: 55,058,554 (GRCm39) |
E12K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,705,982 (GRCm39) |
D691V |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,401 (GRCm39) |
F2283I |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,937,615 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
G |
17: 6,084,114 (GRCm39) |
K267E |
probably damaging |
Het |
Tg |
A |
T |
15: 66,711,211 (GRCm39) |
Y991F |
probably damaging |
Het |
Tlk1 |
A |
T |
2: 70,572,427 (GRCm39) |
D380E |
probably benign |
Het |
Trim43b |
A |
T |
9: 88,967,418 (GRCm39) |
L405H |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,863,576 (GRCm39) |
I586T |
probably damaging |
Het |
Ugt2b36 |
T |
A |
5: 87,229,445 (GRCm39) |
R213S |
probably damaging |
Het |
Vmn1r198 |
T |
A |
13: 22,538,577 (GRCm39) |
M21K |
probably benign |
Het |
Wdr35 |
A |
T |
12: 9,028,685 (GRCm39) |
Y101F |
probably benign |
Het |
Zfp367 |
T |
C |
13: 64,292,064 (GRCm39) |
Y189C |
probably damaging |
Het |
|
Other mutations in 4930590J08Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01090:4930590J08Rik
|
APN |
6 |
91,896,099 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL01478:4930590J08Rik
|
APN |
6 |
91,911,590 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01481:4930590J08Rik
|
APN |
6 |
91,910,079 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01485:4930590J08Rik
|
APN |
6 |
91,927,003 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01794:4930590J08Rik
|
APN |
6 |
91,895,093 (GRCm39) |
nonsense |
probably null |
|
IGL01795:4930590J08Rik
|
APN |
6 |
91,895,093 (GRCm39) |
nonsense |
probably null |
|
IGL02040:4930590J08Rik
|
APN |
6 |
91,895,091 (GRCm39) |
missense |
probably benign |
|
IGL02171:4930590J08Rik
|
APN |
6 |
91,921,237 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02968:4930590J08Rik
|
APN |
6 |
91,900,454 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03358:4930590J08Rik
|
APN |
6 |
91,905,716 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4519001:4930590J08Rik
|
UTSW |
6 |
91,894,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R0531:4930590J08Rik
|
UTSW |
6 |
91,892,127 (GRCm39) |
missense |
probably benign |
|
R0569:4930590J08Rik
|
UTSW |
6 |
91,919,559 (GRCm39) |
nonsense |
probably null |
|
R1536:4930590J08Rik
|
UTSW |
6 |
91,894,016 (GRCm39) |
missense |
probably benign |
0.20 |
R1730:4930590J08Rik
|
UTSW |
6 |
91,896,259 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1758:4930590J08Rik
|
UTSW |
6 |
91,892,203 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1783:4930590J08Rik
|
UTSW |
6 |
91,896,259 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1911:4930590J08Rik
|
UTSW |
6 |
91,927,050 (GRCm39) |
splice site |
probably benign |
|
R1930:4930590J08Rik
|
UTSW |
6 |
91,892,002 (GRCm39) |
missense |
probably benign |
0.01 |
R1936:4930590J08Rik
|
UTSW |
6 |
91,894,061 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2157:4930590J08Rik
|
UTSW |
6 |
91,919,468 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2157:4930590J08Rik
|
UTSW |
6 |
91,894,679 (GRCm39) |
splice site |
probably null |
|
R4072:4930590J08Rik
|
UTSW |
6 |
91,922,342 (GRCm39) |
splice site |
probably null |
|
R4662:4930590J08Rik
|
UTSW |
6 |
91,891,939 (GRCm39) |
missense |
probably benign |
|
R4900:4930590J08Rik
|
UTSW |
6 |
91,895,091 (GRCm39) |
missense |
probably benign |
|
R4936:4930590J08Rik
|
UTSW |
6 |
91,921,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:4930590J08Rik
|
UTSW |
6 |
91,896,174 (GRCm39) |
missense |
probably benign |
0.00 |
R5887:4930590J08Rik
|
UTSW |
6 |
91,892,124 (GRCm39) |
nonsense |
probably null |
|
R5931:4930590J08Rik
|
UTSW |
6 |
91,896,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R6174:4930590J08Rik
|
UTSW |
6 |
91,919,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R6179:4930590J08Rik
|
UTSW |
6 |
91,919,311 (GRCm39) |
missense |
probably damaging |
0.96 |
R6380:4930590J08Rik
|
UTSW |
6 |
91,900,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:4930590J08Rik
|
UTSW |
6 |
91,911,591 (GRCm39) |
missense |
probably benign |
0.03 |
R7860:4930590J08Rik
|
UTSW |
6 |
91,905,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7936:4930590J08Rik
|
UTSW |
6 |
91,900,445 (GRCm39) |
nonsense |
probably null |
|
R7958:4930590J08Rik
|
UTSW |
6 |
91,911,464 (GRCm39) |
missense |
probably benign |
0.02 |
R7968:4930590J08Rik
|
UTSW |
6 |
91,922,441 (GRCm39) |
missense |
|
|
R8111:4930590J08Rik
|
UTSW |
6 |
91,894,691 (GRCm39) |
missense |
probably benign |
|
R8953:4930590J08Rik
|
UTSW |
6 |
91,892,002 (GRCm39) |
missense |
probably benign |
0.01 |
R9084:4930590J08Rik
|
UTSW |
6 |
91,892,016 (GRCm39) |
missense |
probably damaging |
0.97 |
R9154:4930590J08Rik
|
UTSW |
6 |
91,926,926 (GRCm39) |
missense |
probably benign |
0.09 |
R9319:4930590J08Rik
|
UTSW |
6 |
91,922,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCCTCGTAACAACTGGG -3'
(R):5'- CCATAGGGACACAGATTACCAAGG -3'
Sequencing Primer
(F):5'- AAGAAGAGTGTTCTGTTAGTCCCTC -3'
(R):5'- ACAGATTACCAAGGCATAAGGC -3'
|
Posted On |
2018-06-06 |