Incidental Mutation 'R3428:Yipf2'
| ID |
267960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yipf2
|
| Ensembl Gene |
ENSMUSG00000032182 |
| Gene Name |
Yip1 domain family, member 2 |
| Synonyms |
1300010K09Rik |
| MMRRC Submission |
040646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R3428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21499978-21504124 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 21500941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034700]
[ENSMUST00000034703]
[ENSMUST00000062125]
[ENSMUST00000078572]
[ENSMUST00000078572]
[ENSMUST00000115394]
[ENSMUST00000115395]
[ENSMUST00000130032]
[ENSMUST00000213809]
[ENSMUST00000180365]
|
| AlphaFold |
Q99LP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034700
|
| SMART Domains |
Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182
| 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 |
probably benign
Transcript: ENSMUST00000078572
|
| SMART Domains |
Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
84 |
272 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078572
|
| SMART Domains |
Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182
| 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 |
noncoding transcript
Transcript: ENSMUST00000154049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132011
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180365
|
| SMART Domains |
Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
84 |
272 |
1.5e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
A |
8: 25,157,620 (GRCm39) |
C110F |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,060,153 (GRCm39) |
E452K |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,718,209 (GRCm39) |
D80G |
probably damaging |
Het |
| Alg5 |
T |
A |
3: 54,643,006 (GRCm39) |
M1K |
probably null |
Het |
| Ap1g1 |
A |
G |
8: 110,570,080 (GRCm39) |
E398G |
probably damaging |
Het |
| Arhgap17 |
A |
T |
7: 122,922,854 (GRCm39) |
L85Q |
probably damaging |
Het |
| Bbs9 |
T |
A |
9: 22,479,183 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,414,400 (GRCm39) |
L371P |
probably damaging |
Het |
| Cand2 |
A |
C |
6: 115,766,668 (GRCm39) |
R424S |
probably benign |
Het |
| Eng |
G |
T |
2: 32,547,545 (GRCm39) |
V29F |
probably damaging |
Het |
| Gm5828 |
T |
A |
1: 16,838,838 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
T |
C |
4: 137,282,601 (GRCm39) |
L3447P |
probably damaging |
Het |
| Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,416 (GRCm39) |
N844I |
probably benign |
Het |
| Lyzl4 |
T |
C |
9: 121,413,195 (GRCm39) |
I78V |
probably null |
Het |
| Mtg2 |
A |
G |
2: 179,726,065 (GRCm39) |
H225R |
possibly damaging |
Het |
| Or10a5 |
G |
A |
7: 106,635,923 (GRCm39) |
R187K |
probably benign |
Het |
| Pfpl |
T |
A |
19: 12,407,677 (GRCm39) |
S643T |
probably benign |
Het |
| Prelid1 |
T |
G |
13: 55,470,007 (GRCm39) |
V2G |
probably benign |
Het |
| Psma2 |
A |
T |
13: 14,791,362 (GRCm39) |
K2N |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,137,572 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
G |
T |
7: 127,384,493 (GRCm39) |
|
probably benign |
Het |
| Slc20a1 |
A |
T |
2: 129,042,202 (GRCm39) |
N149I |
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav6-7-dv9 |
A |
G |
14: 53,947,788 (GRCm39) |
T97A |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,279,365 (GRCm39) |
Y681C |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,702,436 (GRCm39) |
D74G |
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 |
|
|
IGL02221:Yipf2
|
APN |
9 |
21,502,764 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCAGGGTAGTCTCCAG -3'
(R):5'- TACTGTGGTGCTGCTTCACG -3'
Sequencing Primer
(F):5'- GTAGTCTCCAGGGTCCAAGAATC -3'
(R):5'- TAGGTTCCAGGAGATTCTCACCAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation