Incidental Mutation 'IGL01640:1700003H04Rik'
ID |
93105 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700003H04Rik
|
Ensembl Gene |
ENSMUSG00000039174 |
Gene Name |
RIKEN cDNA 1700003H04 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01640
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
124359540-124374740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124373587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137342
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047110]
[ENSMUST00000178485]
[ENSMUST00000178953]
[ENSMUST00000180033]
[ENSMUST00000180162]
|
AlphaFold |
E9PXM2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047110
AA Change: T3A
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000035388 Gene: ENSMUSG00000039174 AA Change: T3A
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a2
|
7 |
68 |
4e-4 |
SMART |
Blast:PH
|
18 |
114 |
4e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177772
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178485
AA Change: T3A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136984 Gene: ENSMUSG00000039174 AA Change: T3A
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a2
|
7 |
68 |
2e-4 |
SMART |
Blast:PH
|
18 |
99 |
2e-54 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178953
AA Change: T3A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136955 Gene: ENSMUSG00000039174 AA Change: T3A
Domain | Start | End | E-Value | Type |
Blast:PH
|
18 |
91 |
3e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180033
AA Change: T3A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136217 Gene: ENSMUSG00000039174 AA Change: T3A
Domain | Start | End | E-Value | Type |
PH
|
18 |
119 |
1.53e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180162
AA Change: T3A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137342 Gene: ENSMUSG00000039174 AA Change: T3A
Domain | Start | End | E-Value | Type |
SCOP:d1kz7a2
|
7 |
117 |
2e-7 |
SMART |
Blast:PH
|
18 |
115 |
1e-67 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 1700003H04Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01451:1700003H04Rik
|
APN |
3 |
124,373,527 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03240:1700003H04Rik
|
APN |
3 |
124,350,365 (GRCm39) |
utr 3 prime |
probably benign |
|
R1513:1700003H04Rik
|
UTSW |
3 |
124,368,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1537:1700003H04Rik
|
UTSW |
3 |
124,372,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1832:1700003H04Rik
|
UTSW |
3 |
124,350,509 (GRCm39) |
missense |
unknown |
|
R1833:1700003H04Rik
|
UTSW |
3 |
124,350,509 (GRCm39) |
missense |
unknown |
|
R1872:1700003H04Rik
|
UTSW |
3 |
124,350,493 (GRCm39) |
missense |
unknown |
|
R2993:1700003H04Rik
|
UTSW |
3 |
124,372,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:1700003H04Rik
|
UTSW |
3 |
124,373,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5271:1700003H04Rik
|
UTSW |
3 |
124,373,496 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5911:1700003H04Rik
|
UTSW |
3 |
124,350,380 (GRCm39) |
utr 3 prime |
probably benign |
|
R7479:1700003H04Rik
|
UTSW |
3 |
124,372,142 (GRCm39) |
missense |
probably benign |
0.00 |
R7573:1700003H04Rik
|
UTSW |
3 |
124,366,917 (GRCm39) |
missense |
|
|
R7995:1700003H04Rik
|
UTSW |
3 |
124,350,528 (GRCm39) |
missense |
unknown |
|
R9532:1700003H04Rik
|
UTSW |
3 |
124,350,397 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-12-09 |