Incidental Mutation 'R6579:1700017B05Rik'
ID |
523927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700017B05Rik
|
Ensembl Gene |
ENSMUSG00000032300 |
Gene Name |
RIKEN cDNA 1700017B05 gene |
Synonyms |
D9Ertd278e |
MMRRC Submission |
044703-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R6579 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57160400-57169895 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57161507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 80
(V80D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150452
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034846]
[ENSMUST00000093837]
[ENSMUST00000213199]
[ENSMUST00000215298]
[ENSMUST00000217657]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034846
AA Change: V937D
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034846 Gene: ENSMUSG00000032300 AA Change: V937D
Domain | Start | End | E-Value | Type |
low complexity region
|
265 |
284 |
N/A |
INTRINSIC |
low complexity region
|
293 |
299 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
low complexity region
|
649 |
675 |
N/A |
INTRINSIC |
low complexity region
|
692 |
728 |
N/A |
INTRINSIC |
low complexity region
|
785 |
799 |
N/A |
INTRINSIC |
low complexity region
|
933 |
951 |
N/A |
INTRINSIC |
low complexity region
|
963 |
977 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093837
|
SMART Domains |
Protein: ENSMUSP00000091357 Gene: ENSMUSG00000070298
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
302 |
335 |
N/A |
INTRINSIC |
Blast:SEA
|
449 |
549 |
5e-21 |
BLAST |
low complexity region
|
580 |
594 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213199
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214583
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215298
AA Change: V80D
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215426
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217657
|
Meta Mutation Damage Score |
0.1198 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 1700017B05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:1700017B05Rik
|
APN |
9 |
57,165,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01287:1700017B05Rik
|
APN |
9 |
57,165,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01798:1700017B05Rik
|
APN |
9 |
57,163,921 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01933:1700017B05Rik
|
APN |
9 |
57,164,650 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02146:1700017B05Rik
|
APN |
9 |
57,164,023 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02158:1700017B05Rik
|
APN |
9 |
57,163,902 (GRCm39) |
splice site |
probably null |
|
IGL02277:1700017B05Rik
|
APN |
9 |
57,165,708 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02707:1700017B05Rik
|
APN |
9 |
57,165,928 (GRCm39) |
missense |
probably benign |
|
IGL02887:1700017B05Rik
|
APN |
9 |
57,166,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02936:1700017B05Rik
|
APN |
9 |
57,165,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0583:1700017B05Rik
|
UTSW |
9 |
57,164,926 (GRCm39) |
missense |
probably benign |
0.04 |
R0926:1700017B05Rik
|
UTSW |
9 |
57,164,832 (GRCm39) |
missense |
probably damaging |
0.99 |
R1812:1700017B05Rik
|
UTSW |
9 |
57,164,740 (GRCm39) |
nonsense |
probably null |
|
R1903:1700017B05Rik
|
UTSW |
9 |
57,165,635 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4542:1700017B05Rik
|
UTSW |
9 |
57,163,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R4596:1700017B05Rik
|
UTSW |
9 |
57,165,088 (GRCm39) |
missense |
probably benign |
0.03 |
R4631:1700017B05Rik
|
UTSW |
9 |
57,165,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:1700017B05Rik
|
UTSW |
9 |
57,161,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5265:1700017B05Rik
|
UTSW |
9 |
57,166,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:1700017B05Rik
|
UTSW |
9 |
57,164,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:1700017B05Rik
|
UTSW |
9 |
57,164,910 (GRCm39) |
missense |
probably benign |
0.33 |
R6356:1700017B05Rik
|
UTSW |
9 |
57,161,292 (GRCm39) |
missense |
probably benign |
0.11 |
R6774:1700017B05Rik
|
UTSW |
9 |
57,163,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6921:1700017B05Rik
|
UTSW |
9 |
57,166,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:1700017B05Rik
|
UTSW |
9 |
57,166,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:1700017B05Rik
|
UTSW |
9 |
57,165,505 (GRCm39) |
frame shift |
probably null |
|
R7197:1700017B05Rik
|
UTSW |
9 |
57,165,505 (GRCm39) |
frame shift |
probably null |
|
R7728:1700017B05Rik
|
UTSW |
9 |
57,163,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7770:1700017B05Rik
|
UTSW |
9 |
57,165,894 (GRCm39) |
missense |
probably damaging |
0.99 |
R7812:1700017B05Rik
|
UTSW |
9 |
57,165,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R8141:1700017B05Rik
|
UTSW |
9 |
57,165,688 (GRCm39) |
missense |
probably benign |
|
R8144:1700017B05Rik
|
UTSW |
9 |
57,166,388 (GRCm39) |
start gained |
probably benign |
|
R8925:1700017B05Rik
|
UTSW |
9 |
57,165,805 (GRCm39) |
nonsense |
probably null |
|
R8927:1700017B05Rik
|
UTSW |
9 |
57,165,805 (GRCm39) |
nonsense |
probably null |
|
R9186:1700017B05Rik
|
UTSW |
9 |
57,164,472 (GRCm39) |
missense |
probably damaging |
0.99 |
R9194:1700017B05Rik
|
UTSW |
9 |
57,166,371 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9299:1700017B05Rik
|
UTSW |
9 |
57,163,792 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGGCGAAGATCGATCTGC -3'
(R):5'- CGACTTTGGGACTTAGGAGATG -3'
Sequencing Primer
(F):5'- TTGTGACCCCAAGTAGGCAGTG -3'
(R):5'- ACTTAGGAGATGGGACCTTGC -3'
|
Posted On |
2018-06-22 |