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 |
91902809-91950725 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91949999 bp (GRCm38)
|
| 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: 56,846,617 (GRCm38) |
I529F |
probably damaging |
Het |
| Ahcyl2 |
T |
G |
6: 29,886,162 (GRCm38) |
M359R |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 24,918,564 (GRCm38) |
D305E |
probably benign |
Het |
| Catsper2 |
C |
G |
2: 121,399,780 (GRCm38) |
V358L |
possibly damaging |
Het |
| Cd200r4 |
C |
T |
16: 44,833,505 (GRCm38) |
Q222* |
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,408,135 (GRCm38) |
D270E |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,275,119 (GRCm38) |
D1401G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,098,217 (GRCm38) |
M235K |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,967,216 (GRCm38) |
D895G |
probably benign |
Het |
| Dusp27 |
A |
T |
1: 166,110,046 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,617,920 (GRCm38) |
F586L |
probably damaging |
Het |
| Elmo1 |
G |
T |
13: 20,572,446 (GRCm38) |
R568L |
possibly damaging |
Het |
| Epb41 |
T |
C |
4: 131,957,636 (GRCm38) |
T711A |
probably benign |
Het |
| Grm7 |
T |
A |
6: 111,358,425 (GRCm38) |
M599K |
probably benign |
Het |
| Hivep3 |
A |
T |
4: 120,122,876 (GRCm38) |
K1704* |
probably null |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,461,006 (GRCm38) |
C115F |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,952,273 (GRCm38) |
Y200H |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,483,726 (GRCm38) |
H549L |
possibly damaging |
Het |
| Mroh3 |
A |
G |
1: 136,184,353 (GRCm38) |
I759T |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,956,343 (GRCm38) |
|
probably null |
Het |
| Nol6 |
G |
T |
4: 41,118,154 (GRCm38) |
P828T |
probably benign |
Het |
| Olfr1030 |
A |
G |
2: 85,984,307 (GRCm38) |
I156V |
probably benign |
Het |
| Olfr1132 |
A |
G |
2: 87,635,529 (GRCm38) |
Y73H |
probably damaging |
Het |
| Olfr1264 |
A |
G |
2: 90,021,457 (GRCm38) |
V203A |
probably benign |
Het |
| Olfr344 |
G |
A |
2: 36,569,341 (GRCm38) |
V248I |
probably damaging |
Het |
| Ovgp1 |
A |
C |
3: 105,987,071 (GRCm38) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 72,071,487 (GRCm38) |
Q230L |
possibly damaging |
Het |
| Pkn1 |
C |
T |
8: 83,670,293 (GRCm38) |
V910I |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,325,802 (GRCm38) |
|
probably null |
Het |
| Ppp1r12c |
A |
G |
7: 4,482,789 (GRCm38) |
|
probably null |
Het |
| Rassf5 |
T |
A |
1: 131,244,814 (GRCm38) |
Q106L |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,312,979 (GRCm38) |
K62E |
possibly damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,019,395 (GRCm38) |
E12K |
probably damaging |
Het |
| Slc4a1ap |
A |
T |
5: 31,548,638 (GRCm38) |
D691V |
probably benign |
Het |
| Speg |
T |
A |
1: 75,422,757 (GRCm38) |
F2283I |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,033,839 (GRCm38) |
K267E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,839,362 (GRCm38) |
Y991F |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,742,083 (GRCm38) |
D380E |
probably benign |
Het |
| Trim43b |
A |
T |
9: 89,085,365 (GRCm38) |
L405H |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,956,260 (GRCm38) |
I586T |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,081,586 (GRCm38) |
R213S |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,354,407 (GRCm38) |
M21K |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 8,978,685 (GRCm38) |
Y101F |
probably benign |
Het |
| Zfp367 |
T |
C |
13: 64,144,250 (GRCm38) |
Y189C |
probably damaging |
Het |
|
| Other mutations in 4930590J08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:4930590J08Rik
|
APN |
6 |
91,919,118 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01478:4930590J08Rik
|
APN |
6 |
91,934,609 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01481:4930590J08Rik
|
APN |
6 |
91,933,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01485:4930590J08Rik
|
APN |
6 |
91,950,022 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01794:4930590J08Rik
|
APN |
6 |
91,918,112 (GRCm38) |
nonsense |
probably null |
|
|
IGL01795:4930590J08Rik
|
APN |
6 |
91,918,112 (GRCm38) |
nonsense |
probably null |
|
|
IGL02040:4930590J08Rik
|
APN |
6 |
91,918,110 (GRCm38) |
missense |
probably benign |
|
|
IGL02171:4930590J08Rik
|
APN |
6 |
91,944,256 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02968:4930590J08Rik
|
APN |
6 |
91,923,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03358:4930590J08Rik
|
APN |
6 |
91,928,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4519001:4930590J08Rik
|
UTSW |
6 |
91,917,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0531:4930590J08Rik
|
UTSW |
6 |
91,915,146 (GRCm38) |
missense |
probably benign |
|
|
R0569:4930590J08Rik
|
UTSW |
6 |
91,942,578 (GRCm38) |
nonsense |
probably null |
|
|
R1536:4930590J08Rik
|
UTSW |
6 |
91,917,035 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1730:4930590J08Rik
|
UTSW |
6 |
91,919,278 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1758:4930590J08Rik
|
UTSW |
6 |
91,915,222 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1783:4930590J08Rik
|
UTSW |
6 |
91,919,278 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1911:4930590J08Rik
|
UTSW |
6 |
91,950,069 (GRCm38) |
splice site |
probably benign |
|
|
R1930:4930590J08Rik
|
UTSW |
6 |
91,915,021 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1936:4930590J08Rik
|
UTSW |
6 |
91,917,080 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2157:4930590J08Rik
|
UTSW |
6 |
91,942,487 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2157:4930590J08Rik
|
UTSW |
6 |
91,917,698 (GRCm38) |
splice site |
probably null |
|
|
R4072:4930590J08Rik
|
UTSW |
6 |
91,945,361 (GRCm38) |
splice site |
probably null |
|
|
R4662:4930590J08Rik
|
UTSW |
6 |
91,914,958 (GRCm38) |
missense |
probably benign |
|
|
R4900:4930590J08Rik
|
UTSW |
6 |
91,918,110 (GRCm38) |
missense |
probably benign |
|
|
R4936:4930590J08Rik
|
UTSW |
6 |
91,944,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5394:4930590J08Rik
|
UTSW |
6 |
91,919,193 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5887:4930590J08Rik
|
UTSW |
6 |
91,915,143 (GRCm38) |
nonsense |
probably null |
|
|
R5931:4930590J08Rik
|
UTSW |
6 |
91,919,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6174:4930590J08Rik
|
UTSW |
6 |
91,942,536 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6179:4930590J08Rik
|
UTSW |
6 |
91,942,330 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6380:4930590J08Rik
|
UTSW |
6 |
91,923,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7570:4930590J08Rik
|
UTSW |
6 |
91,934,610 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7860:4930590J08Rik
|
UTSW |
6 |
91,928,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7936:4930590J08Rik
|
UTSW |
6 |
91,923,464 (GRCm38) |
nonsense |
probably null |
|
|
R7958:4930590J08Rik
|
UTSW |
6 |
91,934,483 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7968:4930590J08Rik
|
UTSW |
6 |
91,945,460 (GRCm38) |
missense |
|
|
|
R8111:4930590J08Rik
|
UTSW |
6 |
91,917,710 (GRCm38) |
missense |
probably benign |
|
|
R8953:4930590J08Rik
|
UTSW |
6 |
91,915,021 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9084:4930590J08Rik
|
UTSW |
6 |
91,915,035 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9154:4930590J08Rik
|
UTSW |
6 |
91,949,945 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9319:4930590J08Rik
|
UTSW |
6 |
91,945,465 (GRCm38) |
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 |
Incidental Mutation