Incidental Mutation 'R5765:1700086D15Rik'
ID |
446235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700086D15Rik
|
Ensembl Gene |
ENSMUSG00000020548 |
Gene Name |
RIKEN cDNA 1700086D15 gene |
Synonyms |
|
MMRRC Submission |
043366-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R5765 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
65042736-65050717 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 65044066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020855]
[ENSMUST00000047463]
[ENSMUST00000093001]
[ENSMUST00000093002]
[ENSMUST00000108696]
|
AlphaFold |
Q9D9E9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000020855
AA Change: F43I
|
SMART Domains |
Protein: ENSMUSP00000020855 Gene: ENSMUSG00000020548 AA Change: F43I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047463
|
SMART Domains |
Protein: ENSMUSP00000039139 Gene: ENSMUSG00000033389
Domain | Start | End | E-Value | Type |
BAR
|
1 |
242 |
2.27e-71 |
SMART |
RhoGAP
|
266 |
442 |
1.07e-66 |
SMART |
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
low complexity region
|
561 |
575 |
N/A |
INTRINSIC |
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
low complexity region
|
664 |
689 |
N/A |
INTRINSIC |
low complexity region
|
695 |
707 |
N/A |
INTRINSIC |
low complexity region
|
716 |
746 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093001
|
SMART Domains |
Protein: ENSMUSP00000090680 Gene: ENSMUSG00000033389
Domain | Start | End | E-Value | Type |
BAR
|
5 |
210 |
8.8e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093002
|
SMART Domains |
Protein: ENSMUSP00000090681 Gene: ENSMUSG00000033389
Domain | Start | End | E-Value | Type |
BAR
|
1 |
242 |
2.27e-71 |
SMART |
RhoGAP
|
266 |
442 |
1.07e-66 |
SMART |
low complexity region
|
536 |
562 |
N/A |
INTRINSIC |
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
low complexity region
|
598 |
612 |
N/A |
INTRINSIC |
low complexity region
|
622 |
637 |
N/A |
INTRINSIC |
low complexity region
|
670 |
695 |
N/A |
INTRINSIC |
low complexity region
|
701 |
713 |
N/A |
INTRINSIC |
low complexity region
|
722 |
752 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000108696
AA Change: F43I
|
SMART Domains |
Protein: ENSMUSP00000104336 Gene: ENSMUSG00000020548 AA Change: F43I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
94% (51/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
C |
5: 24,778,421 (GRCm39) |
R246G |
probably damaging |
Het |
Adamts19 |
G |
T |
18: 59,185,654 (GRCm39) |
C1176F |
probably damaging |
Het |
Adh7 |
G |
A |
3: 137,932,090 (GRCm39) |
V235I |
probably benign |
Het |
Aoc1l1 |
C |
T |
6: 48,955,471 (GRCm39) |
P694S |
probably damaging |
Het |
Caprin2 |
G |
C |
6: 148,744,666 (GRCm39) |
P701A |
probably damaging |
Het |
Casp7 |
T |
C |
19: 56,422,315 (GRCm39) |
V110A |
possibly damaging |
Het |
Cd1d2 |
A |
T |
3: 86,894,549 (GRCm39) |
M106L |
probably benign |
Het |
Cntnap2 |
C |
T |
6: 46,506,749 (GRCm39) |
|
probably benign |
Het |
Cpm |
A |
G |
10: 117,507,638 (GRCm39) |
I252V |
probably benign |
Het |
Dnaaf2 |
A |
C |
12: 69,239,627 (GRCm39) |
I631M |
probably damaging |
Het |
Fads2b |
T |
G |
2: 85,314,538 (GRCm39) |
|
probably null |
Het |
Fam117b |
A |
G |
1: 60,009,631 (GRCm39) |
|
probably null |
Het |
Fbxw22 |
T |
C |
9: 109,214,064 (GRCm39) |
M251V |
probably benign |
Het |
Fignl1 |
T |
C |
11: 11,752,011 (GRCm39) |
|
probably null |
Het |
Foxp1 |
G |
A |
6: 98,992,423 (GRCm39) |
L156F |
probably damaging |
Het |
Gdap1 |
A |
T |
1: 17,231,650 (GRCm39) |
M332L |
probably benign |
Het |
H2-M3 |
T |
C |
17: 37,583,334 (GRCm39) |
F265S |
probably damaging |
Het |
Il1rl1 |
C |
T |
1: 40,501,103 (GRCm39) |
A493V |
probably benign |
Het |
Iqce |
A |
G |
5: 140,651,895 (GRCm39) |
S359P |
probably damaging |
Het |
Kif2b |
C |
T |
11: 91,468,068 (GRCm39) |
E72K |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,268,340 (GRCm39) |
S188P |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,962,692 (GRCm39) |
|
probably null |
Het |
Mtnr1b |
T |
C |
9: 15,774,459 (GRCm39) |
Y200C |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,702,138 (GRCm39) |
V458I |
possibly damaging |
Het |
Nbea |
C |
T |
3: 55,912,719 (GRCm39) |
V1023I |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,331,006 (GRCm39) |
V2205D |
probably damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,434,226 (GRCm39) |
D262G |
probably damaging |
Het |
Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
Pcdhac1 |
A |
T |
18: 37,223,372 (GRCm39) |
R62* |
probably null |
Het |
Pcdhga1 |
A |
G |
18: 37,796,714 (GRCm39) |
T573A |
probably benign |
Het |
Plin4 |
C |
T |
17: 56,409,470 (GRCm39) |
C1276Y |
possibly damaging |
Het |
Ppp6r1 |
C |
A |
7: 4,645,207 (GRCm39) |
R220L |
possibly damaging |
Het |
Ptprz1 |
T |
G |
6: 23,000,235 (GRCm39) |
V775G |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,275,249 (GRCm39) |
T103A |
possibly damaging |
Het |
Spock1 |
A |
T |
13: 57,577,217 (GRCm39) |
L404Q |
probably benign |
Het |
Stradb |
C |
A |
1: 59,031,903 (GRCm39) |
H272N |
probably benign |
Het |
Strn3 |
A |
G |
12: 51,680,410 (GRCm39) |
S397P |
probably benign |
Het |
Synpo2l |
C |
T |
14: 20,716,198 (GRCm39) |
R126H |
possibly damaging |
Het |
Tas2r104 |
A |
G |
6: 131,662,236 (GRCm39) |
Y158H |
probably benign |
Het |
Tiparp |
T |
A |
3: 65,438,771 (GRCm39) |
I29N |
possibly damaging |
Het |
Tnpo1 |
G |
A |
13: 98,996,349 (GRCm39) |
T484M |
probably benign |
Het |
Tsc22d4 |
A |
G |
5: 137,756,805 (GRCm39) |
I78V |
probably benign |
Het |
Ugt2b1 |
T |
C |
5: 87,067,265 (GRCm39) |
Y386C |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,378 (GRCm39) |
C704Y |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,167,442 (GRCm39) |
Y565* |
probably null |
Het |
Zfand2b |
T |
A |
1: 75,147,171 (GRCm39) |
|
probably null |
Het |
Zzef1 |
C |
T |
11: 72,712,763 (GRCm39) |
Q228* |
probably null |
Het |
|
Other mutations in 1700086D15Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03410:1700086D15Rik
|
APN |
11 |
65,043,393 (GRCm39) |
intron |
probably benign |
|
R4824:1700086D15Rik
|
UTSW |
11 |
65,043,441 (GRCm39) |
intron |
probably benign |
|
R5381:1700086D15Rik
|
UTSW |
11 |
65,044,137 (GRCm39) |
nonsense |
probably null |
|
R6919:1700086D15Rik
|
UTSW |
11 |
65,043,356 (GRCm39) |
intron |
probably benign |
|
R7200:1700086D15Rik
|
UTSW |
11 |
65,043,836 (GRCm39) |
missense |
unknown |
|
R7526:1700086D15Rik
|
UTSW |
11 |
65,043,807 (GRCm39) |
missense |
unknown |
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1186:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1187:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1188:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1189:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1190:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1191:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,044,080 (GRCm39) |
missense |
unknown |
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,043,809 (GRCm39) |
missense |
unknown |
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,043,794 (GRCm39) |
missense |
unknown |
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,044,128 (GRCm39) |
missense |
unknown |
|
Z1192:1700086D15Rik
|
UTSW |
11 |
65,044,114 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTTGCCTCTCGATTCAG -3'
(R):5'- TTGAAATTGATGGGCATTTGTCTCC -3'
Sequencing Primer
(F):5'- TTCAGGCCTGCGTAGAAAGACTG -3'
(R):5'- GGCATTTGTCTCCTGCTCTAATCAAG -3'
|
Posted On |
2016-11-21 |