Incidental Mutation 'IGL01451:1700003H04Rik'
ID |
84635 |
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: 0.064)
|
Stock # |
IGL01451
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
124359540-124374740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124373527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 23
(S23P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047110]
[ENSMUST00000178485]
[ENSMUST00000178953]
[ENSMUST00000180033]
[ENSMUST00000180162]
|
AlphaFold |
E9PXM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047110
AA Change: S23P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000035388 Gene: ENSMUSG00000039174 AA Change: S23P
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 benign
Transcript: ENSMUST00000178485
AA Change: S23P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136984 Gene: ENSMUSG00000039174 AA Change: S23P
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: S23P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136955 Gene: ENSMUSG00000039174 AA Change: S23P
Domain | Start | End | E-Value | Type |
Blast:PH
|
18 |
91 |
3e-16 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180033
AA Change: S23P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000136217 Gene: ENSMUSG00000039174 AA Change: S23P
Domain | Start | End | E-Value | Type |
PH
|
18 |
119 |
1.53e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180162
AA Change: S23P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000137342 Gene: ENSMUSG00000039174 AA Change: S23P
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
C |
5: 121,657,439 (GRCm39) |
Y618C |
probably benign |
Het |
Amigo2 |
A |
C |
15: 97,143,107 (GRCm39) |
S438R |
probably benign |
Het |
Atp5me |
T |
C |
5: 108,581,922 (GRCm39) |
I21V |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,365,017 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,260,390 (GRCm39) |
Y984H |
probably damaging |
Het |
Dpysl2 |
T |
A |
14: 67,045,367 (GRCm39) |
I469F |
possibly damaging |
Het |
Edem3 |
C |
T |
1: 151,694,379 (GRCm39) |
T886I |
probably benign |
Het |
Gart |
T |
C |
16: 91,422,400 (GRCm39) |
T706A |
probably benign |
Het |
Gfpt2 |
A |
T |
11: 49,698,517 (GRCm39) |
|
probably benign |
Het |
Gm11541 |
T |
G |
11: 94,586,495 (GRCm39) |
D84A |
unknown |
Het |
Gne |
T |
C |
4: 44,041,860 (GRCm39) |
|
probably null |
Het |
Gria4 |
A |
T |
9: 4,503,652 (GRCm39) |
D321E |
probably benign |
Het |
Ift122 |
T |
G |
6: 115,889,565 (GRCm39) |
|
probably null |
Het |
Lcp2 |
A |
T |
11: 33,997,345 (GRCm39) |
|
probably benign |
Het |
Mcm2 |
C |
T |
6: 88,868,948 (GRCm39) |
|
probably benign |
Het |
Or8b54 |
A |
G |
9: 38,687,225 (GRCm39) |
I225V |
probably benign |
Het |
Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,751,492 (GRCm39) |
|
probably null |
Het |
Slc25a39 |
T |
C |
11: 102,295,726 (GRCm39) |
T138A |
probably damaging |
Het |
St6galnac1 |
A |
C |
11: 116,660,165 (GRCm39) |
S49R |
probably benign |
Het |
Stat1 |
T |
C |
1: 52,178,502 (GRCm39) |
L312P |
probably damaging |
Het |
Tmem198 |
T |
C |
1: 75,461,014 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Treml4 |
T |
C |
17: 48,572,023 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,786,933 (GRCm39) |
D503G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,775,617 (GRCm39) |
E1854D |
unknown |
Het |
Ubqln3 |
A |
T |
7: 103,791,403 (GRCm39) |
M229K |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,539,457 (GRCm39) |
T939A |
probably damaging |
Het |
|
Other mutations in 1700003H04Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01640:1700003H04Rik
|
APN |
3 |
124,373,587 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-11-11 |