Incidental Mutation 'IGL02221:Yipf2'
| ID |
285135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Yipf2
|
| Ensembl Gene |
ENSMUSG00000032182 |
| Gene Name |
Yip1 domain family, member 2 |
| Synonyms |
1300010K09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21499978-21504124 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21502764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 106
(N106S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034700]
[ENSMUST00000034703]
[ENSMUST00000062125]
[ENSMUST00000078572]
[ENSMUST00000115394]
[ENSMUST00000115395]
[ENSMUST00000130032]
[ENSMUST00000180365]
[ENSMUST00000213809]
|
| AlphaFold |
Q99LP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034700
AA Change: N106S
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182
AA Change: N106S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
84 |
272 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034703
|
| SMART Domains |
Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
27 |
140 |
2.1e-71 |
PFAM |
|
Pfam:PRMT5
|
144 |
447 |
2.3e-16 |
PFAM |
|
Pfam:MTS
|
166 |
308 |
2.7e-10 |
PFAM |
|
Pfam:Methyltransf_9
|
168 |
318 |
1.1e-9 |
PFAM |
|
Pfam:PrmA
|
173 |
287 |
2.2e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
183 |
325 |
7.4e-11 |
PFAM |
|
Pfam:Methyltransf_18
|
185 |
290 |
5.1e-12 |
PFAM |
|
Pfam:Methyltransf_26
|
186 |
287 |
5.3e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
190 |
287 |
8.5e-7 |
PFAM |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062125
|
| SMART Domains |
Protein: ENSMUSP00000058283
Gene: ENSMUSG00000048429
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2366
|
26 |
192 |
2.1e-63 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078572
AA Change: N106S
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182
AA Change: N106S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
84 |
272 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115394
|
| SMART Domains |
Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
29 |
140 |
4.7e-63 |
PFAM |
|
Pfam:PRMT5
|
145 |
447 |
4.1e-16 |
PFAM |
|
Pfam:Methyltransf_9
|
168 |
318 |
1.4e-9 |
PFAM |
|
Pfam:MTS
|
170 |
299 |
2.5e-9 |
PFAM |
|
Pfam:PrmA
|
175 |
287 |
3.7e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
183 |
326 |
1.9e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
185 |
290 |
4e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
190 |
287 |
6.5e-7 |
PFAM |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
619 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115395
|
| SMART Domains |
Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
27 |
140 |
2e-71 |
PFAM |
|
Pfam:PRMT5
|
144 |
447 |
2.1e-16 |
PFAM |
|
Pfam:MTS
|
166 |
308 |
2.6e-10 |
PFAM |
|
Pfam:Methyltransf_9
|
168 |
318 |
1.1e-9 |
PFAM |
|
Pfam:PrmA
|
172 |
287 |
2.1e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
183 |
326 |
6.9e-11 |
PFAM |
|
Pfam:Methyltransf_18
|
185 |
290 |
4.8e-12 |
PFAM |
|
Pfam:Methyltransf_26
|
186 |
287 |
5e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
190 |
287 |
8.1e-7 |
PFAM |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130032
|
| SMART Domains |
Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
27 |
140 |
2.8e-73 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180365
AA Change: N106S
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182
AA Change: N106S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
84 |
272 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213809
|
| 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 |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
| Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
| Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
| Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
| Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
| Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
| Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
| Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
| Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
| Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
| Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
Het |
|
| Other mutations in Yipf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Yipf2
|
APN |
9 |
21,503,820 (GRCm39) |
splice site |
probably null |
|
|
IGL02559:Yipf2
|
APN |
9 |
21,503,482 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03055:Yipf2
|
UTSW |
9 |
21,501,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0089:Yipf2
|
UTSW |
9 |
21,503,262 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0113:Yipf2
|
UTSW |
9 |
21,501,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0725:Yipf2
|
UTSW |
9 |
21,503,519 (GRCm39) |
splice site |
probably null |
|
|
R2294:Yipf2
|
UTSW |
9 |
21,501,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Yipf2
|
UTSW |
9 |
21,501,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3428:Yipf2
|
UTSW |
9 |
21,500,941 (GRCm39) |
intron |
probably benign |
|
|
R4956:Yipf2
|
UTSW |
9 |
21,503,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Yipf2
|
UTSW |
9 |
21,503,228 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5490:Yipf2
|
UTSW |
9 |
21,503,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6599:Yipf2
|
UTSW |
9 |
21,501,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7050:Yipf2
|
UTSW |
9 |
21,503,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7206:Yipf2
|
UTSW |
9 |
21,501,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Yipf2
|
UTSW |
9 |
21,501,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Yipf2
|
UTSW |
9 |
21,501,489 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2015-04-16 |
Incidental Mutation