Incidental Mutation 'R6578:1700034J05Rik'
ID |
523861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700034J05Rik
|
Ensembl Gene |
ENSMUSG00000040163 |
Gene Name |
RIKEN cDNA 1700034J05 gene |
Synonyms |
|
MMRRC Submission |
044702-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6578 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
146852799-146855937 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 146854812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 77
(R77*)
|
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 null
Transcript: ENSMUST00000036592
AA Change: R77*
|
SMART Domains |
Protein: ENSMUSP00000043802 Gene: ENSMUSG00000040163 AA Change: R77*
Domain | Start | End | E-Value | Type |
Pfam:DUF4640
|
18 |
301 |
2.7e-128 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111622
AA Change: R77*
|
SMART Domains |
Protein: ENSMUSP00000107249 Gene: ENSMUSG00000040163 AA Change: R77*
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 |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh9a1 |
A |
G |
1: 167,183,328 (GRCm39) |
Y182C |
probably damaging |
Het |
Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,259,154 (GRCm39) |
I105T |
probably damaging |
Het |
Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
Hipk4 |
T |
C |
7: 27,227,812 (GRCm39) |
I186T |
probably damaging |
Het |
Igdcc3 |
A |
G |
9: 65,089,301 (GRCm39) |
D499G |
probably damaging |
Het |
Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
Pwwp2b |
T |
C |
7: 138,836,028 (GRCm39) |
C490R |
probably damaging |
Het |
Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
Sync |
T |
C |
4: 129,188,060 (GRCm39) |
L364P |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
probably damaging |
Het |
|
Other mutations in 1700034J05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01654:1700034J05Rik
|
APN |
6 |
146,854,838 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTTTGCAGGGAGTCAG -3'
(R):5'- TGGACACTCTCAGCACCATG -3'
Sequencing Primer
(F):5'- ACAGTTTGCAGGGAGTCAGTTTTG -3'
(R):5'- TCCAGCAGTGACTACAGTAGC -3'
|
Posted On |
2018-06-22 |