Incidental Mutation 'R6643:E130308A19Rik'
| ID |
525917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
E130308A19Rik
|
| Ensembl Gene |
ENSMUSG00000045071 |
| Gene Name |
RIKEN cDNA E130308A19 gene |
| Synonyms |
|
| MMRRC Submission |
044764-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R6643 (G1)
|
| Quality Score |
196.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59626116-59757649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59720561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 698
(S698G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052420]
[ENSMUST00000070150]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052420
AA Change: S698G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: S698G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
520 |
673 |
2.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070150
|
| SMART Domains |
Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
532 |
687 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152797
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,183,644 (GRCm39) |
S140P |
probably damaging |
Het |
| Atp5mc1 |
A |
C |
11: 95,964,854 (GRCm39) |
C17W |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,470 (GRCm39) |
S161P |
unknown |
Het |
| Cntrob |
A |
G |
11: 69,202,248 (GRCm39) |
V448A |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,693,886 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,877,830 (GRCm39) |
Y2049C |
probably damaging |
Het |
| Cpn1 |
C |
T |
19: 43,948,472 (GRCm39) |
D395N |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,266,390 (GRCm39) |
T769A |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,607 (GRCm39) |
H62L |
probably damaging |
Het |
| Ddx42 |
G |
T |
11: 106,119,646 (GRCm39) |
V144F |
probably benign |
Het |
| Eif2b3 |
T |
C |
4: 116,927,954 (GRCm39) |
L391P |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,330,895 (GRCm39) |
I525T |
probably benign |
Het |
| Kifc1 |
C |
T |
17: 34,104,829 (GRCm39) |
G59S |
probably benign |
Het |
| Lancl1 |
T |
C |
1: 67,043,542 (GRCm39) |
E360G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,340 (GRCm39) |
L1679S |
probably benign |
Het |
| Mroh9 |
T |
A |
1: 162,903,130 (GRCm39) |
D91V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,142,719 (GRCm39) |
I170T |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,911 (GRCm39) |
I77F |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,776 (GRCm39) |
I273T |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,611 (GRCm39) |
L249P |
probably damaging |
Het |
| Or6z5 |
G |
A |
7: 6,477,720 (GRCm39) |
D204N |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,607,165 (GRCm39) |
T109S |
probably damaging |
Het |
| Reg3b |
C |
A |
6: 78,349,905 (GRCm39) |
S148R |
possibly damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,731 (GRCm39) |
S365P |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,702,860 (GRCm39) |
E563G |
probably benign |
Het |
| Slc4a10 |
C |
T |
2: 62,059,054 (GRCm39) |
T187M |
possibly damaging |
Het |
| Slc5a7 |
G |
T |
17: 54,583,644 (GRCm39) |
Q549K |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,701,150 (GRCm39) |
L573P |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,687,001 (GRCm39) |
S120T |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,998,016 (GRCm39) |
G163V |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,923,262 (GRCm39) |
I201T |
possibly damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,945 (GRCm39) |
T263A |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,697,521 (GRCm39) |
D262E |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,343,667 (GRCm39) |
E682G |
possibly damaging |
Het |
|
| Other mutations in E130308A19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:E130308A19Rik
|
APN |
4 |
59,737,743 (GRCm39) |
splice site |
probably benign |
|
|
IGL00672:E130308A19Rik
|
APN |
4 |
59,719,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00937:E130308A19Rik
|
APN |
4 |
59,690,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01885:E130308A19Rik
|
APN |
4 |
59,720,004 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02638:E130308A19Rik
|
APN |
4 |
59,719,676 (GRCm39) |
nonsense |
probably null |
|
|
H8562:E130308A19Rik
|
UTSW |
4 |
59,691,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0044:E130308A19Rik
|
UTSW |
4 |
59,690,290 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0523:E130308A19Rik
|
UTSW |
4 |
59,719,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0788:E130308A19Rik
|
UTSW |
4 |
59,719,847 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1215:E130308A19Rik
|
UTSW |
4 |
59,690,743 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1490:E130308A19Rik
|
UTSW |
4 |
59,719,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2292:E130308A19Rik
|
UTSW |
4 |
59,690,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3907:E130308A19Rik
|
UTSW |
4 |
59,752,393 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4288:E130308A19Rik
|
UTSW |
4 |
59,690,308 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4780:E130308A19Rik
|
UTSW |
4 |
59,691,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4781:E130308A19Rik
|
UTSW |
4 |
59,691,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4834:E130308A19Rik
|
UTSW |
4 |
59,690,317 (GRCm39) |
nonsense |
probably null |
|
|
R4985:E130308A19Rik
|
UTSW |
4 |
59,691,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6123:E130308A19Rik
|
UTSW |
4 |
59,737,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:E130308A19Rik
|
UTSW |
4 |
59,691,332 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6315:E130308A19Rik
|
UTSW |
4 |
59,691,132 (GRCm39) |
missense |
probably benign |
|
|
R6763:E130308A19Rik
|
UTSW |
4 |
59,752,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6980:E130308A19Rik
|
UTSW |
4 |
59,719,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7036:E130308A19Rik
|
UTSW |
4 |
59,719,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7078:E130308A19Rik
|
UTSW |
4 |
59,737,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:E130308A19Rik
|
UTSW |
4 |
59,753,004 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7171:E130308A19Rik
|
UTSW |
4 |
59,690,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:E130308A19Rik
|
UTSW |
4 |
59,690,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:E130308A19Rik
|
UTSW |
4 |
59,752,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7916:E130308A19Rik
|
UTSW |
4 |
59,719,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:E130308A19Rik
|
UTSW |
4 |
59,719,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:E130308A19Rik
|
UTSW |
4 |
59,720,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8795:E130308A19Rik
|
UTSW |
4 |
59,737,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9088:E130308A19Rik
|
UTSW |
4 |
59,737,594 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9663:E130308A19Rik
|
UTSW |
4 |
59,719,764 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:E130308A19Rik
|
UTSW |
4 |
59,720,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:E130308A19Rik
|
UTSW |
4 |
59,720,223 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTATGCGCTATGAGGATG -3'
(R):5'- ACGCAATGCAGTACACATGATG -3'
Sequencing Primer
(F):5'- GCTATGAGGATGCCCCCTTC -3'
(R):5'- TACACATGATGGTTTCCTGGGACAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation