Incidental Mutation 'R4362:2200002D01Rik'
| ID |
324948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2200002D01Rik
|
| Ensembl Gene |
ENSMUSG00000030587 |
| Gene Name |
RIKEN cDNA 2200002D01 gene |
| Synonyms |
H2RSP, HAI-2 related small protein |
| MMRRC Submission |
041671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28946946-28947892 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 28947687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032808]
[ENSMUST00000032809]
[ENSMUST00000108237]
[ENSMUST00000108238]
[ENSMUST00000138128]
[ENSMUST00000142519]
|
| AlphaFold |
Q9D809 |
| Predicted Effect |
probably benign
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
| Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,620,829 (GRCm39) |
P50L |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
| Fam219a |
C |
T |
4: 41,518,844 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
| Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
| Icam1 |
A |
G |
9: 20,937,608 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
| Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,452,385 (GRCm39) |
Y375C |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
| Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
probably null |
Het |
|
| Other mutations in 2200002D01Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01724:2200002D01Rik
|
APN |
7 |
28,947,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02532:2200002D01Rik
|
APN |
7 |
28,947,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACGGAAGCCAGTTCTCATCTC -3'
(R):5'- GGAATTCCTGAGATGGGCAG -3'
Sequencing Primer
(F):5'- GCCAGTTCTCATCTCGGGCC -3'
(R):5'- AGGTCGTGCAGTCCCAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation