Incidental Mutation 'IGL01724:2200002D01Rik'
ID |
105226 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
2200002D01Rik
|
Ensembl Gene |
ENSMUSG00000030587 |
Gene Name |
RIKEN cDNA 2200002D01 gene |
Synonyms |
H2RSP, HAI-2 related small protein |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
IGL01724
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28946946-28947892 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 28947321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032808]
[ENSMUST00000032809]
[ENSMUST00000108237]
[ENSMUST00000108238]
[ENSMUST00000138128]
[ENSMUST00000142519]
|
AlphaFold |
Q9D809 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032808
|
SMART Domains |
Protein: ENSMUSP00000032808 Gene: ENSMUSG00000030587
Domain | Start | End | E-Value | Type |
Pfam:IMUP
|
1 |
114 |
1.8e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032809
|
SMART Domains |
Protein: ENSMUSP00000032809 Gene: ENSMUSG00000030588
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
65 |
N/A |
INTRINSIC |
Pfam:YIF1
|
72 |
304 |
5.7e-86 |
PFAM |
Pfam:Yip1
|
110 |
282 |
7.9e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108237
|
SMART Domains |
Protein: ENSMUSP00000103872 Gene: ENSMUSG00000030588
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
57 |
N/A |
INTRINSIC |
Pfam:YIF1
|
64 |
176 |
3.9e-48 |
PFAM |
Pfam:YIF1
|
169 |
244 |
2.5e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108238
|
SMART Domains |
Protein: ENSMUSP00000103873 Gene: ENSMUSG00000030588
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
62 |
N/A |
INTRINSIC |
Pfam:YIF1
|
66 |
303 |
5.4e-107 |
PFAM |
Pfam:Yip1
|
107 |
279 |
7.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138128
|
SMART Domains |
Protein: ENSMUSP00000117224 Gene: ENSMUSG00000030588
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
62 |
N/A |
INTRINSIC |
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151339
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,610,259 (GRCm39) |
V635A |
probably benign |
Het |
Adgre1 |
T |
A |
17: 57,751,064 (GRCm39) |
Y579* |
probably null |
Het |
Adgrg3 |
T |
C |
8: 95,766,053 (GRCm39) |
F295L |
probably benign |
Het |
Arhgap42 |
A |
T |
9: 8,998,254 (GRCm39) |
|
probably benign |
Het |
Brd2 |
T |
A |
17: 34,335,976 (GRCm39) |
Q79L |
probably damaging |
Het |
Brd2 |
C |
A |
17: 34,335,975 (GRCm39) |
Q79H |
probably damaging |
Het |
Capn15 |
A |
G |
17: 26,181,037 (GRCm39) |
S705P |
probably damaging |
Het |
Cebpz |
T |
A |
17: 79,243,342 (GRCm39) |
D104V |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,626,534 (GRCm39) |
I94T |
probably damaging |
Het |
Csf2rb |
C |
T |
15: 78,220,614 (GRCm39) |
A52V |
probably damaging |
Het |
Ddx27 |
T |
C |
2: 166,870,309 (GRCm39) |
L459P |
probably damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,919,651 (GRCm39) |
T577A |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,081,077 (GRCm39) |
T2873I |
probably benign |
Het |
Emg1 |
A |
G |
6: 124,688,984 (GRCm39) |
F8S |
possibly damaging |
Het |
Fermt3 |
A |
G |
19: 6,979,143 (GRCm39) |
I553T |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,947 (GRCm39) |
D419G |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,008,912 (GRCm39) |
|
probably benign |
Het |
Hsf1 |
T |
A |
15: 76,381,037 (GRCm39) |
V122E |
possibly damaging |
Het |
Lig3 |
C |
A |
11: 82,681,448 (GRCm39) |
T480K |
possibly damaging |
Het |
Magi1 |
T |
C |
6: 93,769,381 (GRCm39) |
|
probably null |
Het |
Mcm2 |
G |
T |
6: 88,863,044 (GRCm39) |
H683N |
probably damaging |
Het |
Ncapg2 |
G |
T |
12: 116,390,331 (GRCm39) |
A427S |
probably damaging |
Het |
Nkd1 |
T |
C |
8: 89,248,923 (GRCm39) |
F23L |
probably damaging |
Het |
Or9i2 |
G |
A |
19: 13,816,225 (GRCm39) |
T104M |
probably damaging |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Pdx1 |
A |
T |
5: 147,211,217 (GRCm39) |
E146V |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,750,604 (GRCm39) |
T485A |
probably benign |
Het |
Slc17a4 |
A |
G |
13: 24,089,516 (GRCm39) |
Y134H |
probably benign |
Het |
Slc24a4 |
A |
T |
12: 102,185,219 (GRCm39) |
M110L |
possibly damaging |
Het |
Tent5a |
A |
G |
9: 85,207,103 (GRCm39) |
C232R |
probably damaging |
Het |
Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
Uhrf2 |
T |
C |
19: 30,052,652 (GRCm39) |
V382A |
probably benign |
Het |
Vac14 |
T |
A |
8: 111,345,523 (GRCm39) |
M1K |
probably null |
Het |
Virma |
A |
G |
4: 11,528,672 (GRCm39) |
E1303G |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,356,411 (GRCm39) |
V3724A |
probably benign |
Het |
|
Other mutations in 2200002D01Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02532:2200002D01Rik
|
APN |
7 |
28,947,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4362:2200002D01Rik
|
UTSW |
7 |
28,947,687 (GRCm39) |
unclassified |
probably benign |
|
R8986:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9364:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9365:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9367:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9368:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9369:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9371:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9372:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9373:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9381:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9448:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9449:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9450:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9495:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9498:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9513:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9514:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9515:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9551:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
R9552:2200002D01Rik
|
UTSW |
7 |
28,947,048 (GRCm39) |
unclassified |
probably benign |
|
Z1186:2200002D01Rik
|
UTSW |
7 |
28,947,029 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2014-01-21 |