Incidental Mutation 'IGL01569:1700010I14Rik'
ID |
91100 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700010I14Rik
|
Ensembl Gene |
ENSMUSG00000023873 |
Gene Name |
RIKEN cDNA 1700010I14 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01569
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
9207152-9227151 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9215827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 311
(V311A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024650]
[ENSMUST00000151609]
|
AlphaFold |
Q7TPG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024650
AA Change: V311A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000024650 Gene: ENSMUSG00000023873 AA Change: V311A
Domain | Start | End | E-Value | Type |
coiled coil region
|
135 |
165 |
N/A |
INTRINSIC |
Pfam:TSNAXIP1_N
|
239 |
349 |
6.1e-36 |
PFAM |
low complexity region
|
351 |
364 |
N/A |
INTRINSIC |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
coiled coil region
|
421 |
466 |
N/A |
INTRINSIC |
low complexity region
|
501 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151609
AA Change: V311A
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000118841 Gene: ENSMUSG00000023873 AA Change: V311A
Domain | Start | End | E-Value | Type |
coiled coil region
|
135 |
165 |
N/A |
INTRINSIC |
coiled coil region
|
321 |
370 |
N/A |
INTRINSIC |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
coiled coil region
|
421 |
466 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bdh1 |
T |
C |
16: 31,273,909 (GRCm39) |
M194T |
probably benign |
Het |
Dnmbp |
T |
C |
19: 43,863,295 (GRCm39) |
R808G |
probably benign |
Het |
Esco2 |
T |
C |
14: 66,063,977 (GRCm39) |
I402M |
probably benign |
Het |
Gm5422 |
T |
C |
10: 31,125,897 (GRCm39) |
|
noncoding transcript |
Het |
Il5ra |
C |
A |
6: 106,708,794 (GRCm39) |
M1I |
probably null |
Het |
Kcnk4 |
T |
A |
19: 6,904,545 (GRCm39) |
I240F |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,897,523 (GRCm39) |
E698G |
probably damaging |
Het |
Mkln1 |
A |
G |
6: 31,405,063 (GRCm39) |
|
probably benign |
Het |
Mypn |
C |
T |
10: 62,963,538 (GRCm39) |
G978R |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,410 (GRCm39) |
T28A |
probably benign |
Het |
Podn |
T |
A |
4: 107,881,496 (GRCm39) |
Y6F |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Rad54l |
T |
C |
4: 115,956,195 (GRCm39) |
D544G |
probably damaging |
Het |
Reck |
C |
A |
4: 43,925,172 (GRCm39) |
S470R |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,123,024 (GRCm39) |
H891R |
probably benign |
Het |
Tbata |
C |
T |
10: 61,011,739 (GRCm39) |
R92* |
probably null |
Het |
Tdrd1 |
A |
G |
19: 56,822,841 (GRCm39) |
N103S |
probably damaging |
Het |
Timm21 |
A |
G |
18: 84,969,400 (GRCm39) |
V8A |
probably benign |
Het |
Tnn |
A |
G |
1: 159,948,124 (GRCm39) |
V863A |
possibly damaging |
Het |
Togaram1 |
A |
G |
12: 65,029,436 (GRCm39) |
D953G |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,938,390 (GRCm39) |
|
probably null |
Het |
Trgv4 |
A |
G |
13: 19,369,678 (GRCm39) |
|
probably benign |
Het |
Vmn1r8 |
A |
T |
6: 57,013,272 (GRCm39) |
N108Y |
possibly damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,953,432 (GRCm39) |
M56T |
probably benign |
Het |
Ythdc2 |
A |
G |
18: 45,020,718 (GRCm39) |
E1434G |
probably benign |
Het |
|
Other mutations in 1700010I14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00988:1700010I14Rik
|
APN |
17 |
9,215,937 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03024:1700010I14Rik
|
APN |
17 |
9,212,464 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03410:1700010I14Rik
|
APN |
17 |
9,220,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R0017:1700010I14Rik
|
UTSW |
17 |
9,226,938 (GRCm39) |
utr 3 prime |
probably benign |
|
R0017:1700010I14Rik
|
UTSW |
17 |
9,226,938 (GRCm39) |
utr 3 prime |
probably benign |
|
R0324:1700010I14Rik
|
UTSW |
17 |
9,219,989 (GRCm39) |
missense |
probably benign |
0.33 |
R0361:1700010I14Rik
|
UTSW |
17 |
9,211,378 (GRCm39) |
missense |
probably benign |
0.39 |
R0482:1700010I14Rik
|
UTSW |
17 |
9,207,255 (GRCm39) |
critical splice donor site |
probably null |
|
R0529:1700010I14Rik
|
UTSW |
17 |
9,211,228 (GRCm39) |
missense |
probably benign |
0.32 |
R1102:1700010I14Rik
|
UTSW |
17 |
9,211,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:1700010I14Rik
|
UTSW |
17 |
9,211,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R3620:1700010I14Rik
|
UTSW |
17 |
9,226,864 (GRCm39) |
missense |
probably benign |
0.15 |
R4259:1700010I14Rik
|
UTSW |
17 |
9,214,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:1700010I14Rik
|
UTSW |
17 |
9,214,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R4687:1700010I14Rik
|
UTSW |
17 |
9,210,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:1700010I14Rik
|
UTSW |
17 |
9,224,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:1700010I14Rik
|
UTSW |
17 |
9,226,845 (GRCm39) |
missense |
probably benign |
0.41 |
R4979:1700010I14Rik
|
UTSW |
17 |
9,220,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R5225:1700010I14Rik
|
UTSW |
17 |
9,226,839 (GRCm39) |
nonsense |
probably null |
|
R5383:1700010I14Rik
|
UTSW |
17 |
9,211,532 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6031:1700010I14Rik
|
UTSW |
17 |
9,214,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6031:1700010I14Rik
|
UTSW |
17 |
9,214,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6505:1700010I14Rik
|
UTSW |
17 |
9,220,772 (GRCm39) |
missense |
probably benign |
0.08 |
R6736:1700010I14Rik
|
UTSW |
17 |
9,211,100 (GRCm39) |
missense |
probably benign |
0.01 |
R7089:1700010I14Rik
|
UTSW |
17 |
9,226,927 (GRCm39) |
missense |
probably benign |
0.00 |
R7097:1700010I14Rik
|
UTSW |
17 |
9,224,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R7292:1700010I14Rik
|
UTSW |
17 |
9,215,861 (GRCm39) |
nonsense |
probably null |
|
R7405:1700010I14Rik
|
UTSW |
17 |
9,220,649 (GRCm39) |
missense |
probably damaging |
0.99 |
R7567:1700010I14Rik
|
UTSW |
17 |
9,226,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:1700010I14Rik
|
UTSW |
17 |
9,220,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8794:1700010I14Rik
|
UTSW |
17 |
9,226,939 (GRCm39) |
missense |
unknown |
|
R8805:1700010I14Rik
|
UTSW |
17 |
9,226,737 (GRCm39) |
nonsense |
probably null |
|
R9007:1700010I14Rik
|
UTSW |
17 |
9,226,935 (GRCm39) |
missense |
probably benign |
0.01 |
R9308:1700010I14Rik
|
UTSW |
17 |
9,220,667 (GRCm39) |
nonsense |
probably null |
|
R9400:1700010I14Rik
|
UTSW |
17 |
9,211,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-12-09 |