Incidental Mutation 'IGL01654:1700034J05Rik'
| ID |
102907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
1700034J05Rik
|
| Ensembl Gene |
ENSMUSG00000040163 |
| Gene Name |
RIKEN cDNA 1700034J05 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146852799-146855937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146854838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 68
(E68V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016631]
[ENSMUST00000036592]
[ENSMUST00000111622]
[ENSMUST00000111623]
[ENSMUST00000203730]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016631
|
| SMART Domains |
Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
PDB:3QH9|A
|
180 |
256 |
3e-8 |
PDB |
|
low complexity region
|
345 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
546 |
N/A |
INTRINSIC |
|
SAM
|
603 |
670 |
3.06e-13 |
SMART |
|
SAM
|
675 |
741 |
2.39e-15 |
SMART |
|
SAM
|
763 |
835 |
7.91e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036592
AA Change: E68V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: E68V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4640
|
18 |
301 |
2.7e-128 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111622
AA Change: E68V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: E68V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4640
|
18 |
300 |
1.3e-136 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111623
|
| SMART Domains |
Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
PDB:3QH9|A
|
180 |
256 |
3e-8 |
PDB |
|
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
557 |
N/A |
INTRINSIC |
|
SAM
|
614 |
681 |
3.06e-13 |
SMART |
|
SAM
|
686 |
752 |
2.39e-15 |
SMART |
|
SAM
|
774 |
846 |
7.91e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203730
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,765,065 (GRCm39) |
|
probably null |
Het |
| Abcg2 |
T |
A |
6: 58,660,306 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,762,061 (GRCm39) |
I1252T |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,996 (GRCm39) |
D19E |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,402,238 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,975,519 (GRCm39) |
T1932A |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,027,133 (GRCm39) |
V124A |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,275 (GRCm39) |
I170N |
probably benign |
Het |
| Ckap5 |
C |
T |
2: 91,407,954 (GRCm39) |
H827Y |
probably benign |
Het |
| Clk3 |
C |
T |
9: 57,659,046 (GRCm39) |
V572M |
probably damaging |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,066 (GRCm39) |
D165G |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,115,648 (GRCm39) |
|
probably benign |
Het |
| Fes |
C |
T |
7: 80,036,558 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
T |
11: 76,104,224 (GRCm39) |
L179H |
probably damaging |
Het |
| Gm3327 |
A |
G |
14: 44,362,317 (GRCm39) |
E72G |
unknown |
Het |
| Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,440,714 (GRCm39) |
V357A |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,541,143 (GRCm39) |
I50T |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,389 (GRCm39) |
A310V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,435,853 (GRCm39) |
R890Q |
probably benign |
Het |
| Npdc1 |
T |
C |
2: 25,297,649 (GRCm39) |
S101P |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,654 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,662 (GRCm39) |
N460S |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,834,555 (GRCm39) |
|
probably null |
Het |
| Prkcq |
A |
T |
2: 11,288,654 (GRCm39) |
T536S |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,837 (GRCm39) |
V269E |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,977,254 (GRCm39) |
I215F |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,815,675 (GRCm39) |
D41N |
possibly damaging |
Het |
| Srp68 |
T |
C |
11: 116,138,638 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,115,914 (GRCm39) |
T623A |
probably damaging |
Het |
| Zfand2a |
A |
G |
5: 139,467,823 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,783,796 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,519 (GRCm39) |
S1008L |
probably damaging |
Het |
|
| Other mutations in 1700034J05Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01725:1700034J05Rik
|
APN |
6 |
146,853,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01860:1700034J05Rik
|
APN |
6 |
146,853,914 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01991:1700034J05Rik
|
APN |
6 |
146,854,608 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02375:1700034J05Rik
|
APN |
6 |
146,854,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0254:1700034J05Rik
|
UTSW |
6 |
146,853,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0361:1700034J05Rik
|
UTSW |
6 |
146,853,869 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0835:1700034J05Rik
|
UTSW |
6 |
146,855,036 (GRCm39) |
intron |
probably benign |
|
|
R1101:1700034J05Rik
|
UTSW |
6 |
146,853,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1428:1700034J05Rik
|
UTSW |
6 |
146,853,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1487:1700034J05Rik
|
UTSW |
6 |
146,854,877 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1887:1700034J05Rik
|
UTSW |
6 |
146,853,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1988:1700034J05Rik
|
UTSW |
6 |
146,854,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1989:1700034J05Rik
|
UTSW |
6 |
146,854,394 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4063:1700034J05Rik
|
UTSW |
6 |
146,854,606 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6122:1700034J05Rik
|
UTSW |
6 |
146,853,750 (GRCm39) |
makesense |
probably null |
|
|
R6578:1700034J05Rik
|
UTSW |
6 |
146,854,812 (GRCm39) |
nonsense |
probably null |
|
|
R7029:1700034J05Rik
|
UTSW |
6 |
146,853,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7585:1700034J05Rik
|
UTSW |
6 |
146,854,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7842:1700034J05Rik
|
UTSW |
6 |
146,855,034 (GRCm39) |
missense |
unknown |
|
|
R9272:1700034J05Rik
|
UTSW |
6 |
146,854,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:1700034J05Rik
|
UTSW |
6 |
146,854,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:1700034J05Rik
|
UTSW |
6 |
146,855,038 (GRCm39) |
start codon destroyed |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation