Incidental Mutation 'R5490:Yipf2'
ID |
432045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yipf2
|
Ensembl Gene |
ENSMUSG00000032182 |
Gene Name |
Yip1 domain family, member 2 |
Synonyms |
1300010K09Rik |
MMRRC Submission |
043051-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R5490 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21499978-21504124 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21503487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 20
(A20V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034700]
[ENSMUST00000034703]
[ENSMUST00000062125]
[ENSMUST00000078572]
[ENSMUST00000115394]
[ENSMUST00000115395]
[ENSMUST00000180365]
[ENSMUST00000130032]
[ENSMUST00000213809]
|
AlphaFold |
Q99LP8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034700
AA Change: A20V
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000034700 Gene: ENSMUSG00000032182 AA Change: A20V
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
AA Change: A20V
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000077649 Gene: ENSMUSG00000032182 AA Change: A20V
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: ENSMUST00000180365
AA Change: A20V
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000136463 Gene: ENSMUSG00000032182 AA Change: A20V
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: ENSMUST00000154049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132011
|
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 |
probably benign
Transcript: ENSMUST00000213809
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216160
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
probably damaging |
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 |
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 |
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'- CTCAGAACTTGCCTGCTCAG -3'
(R):5'- CAGCGTCCAATTCTGCACAG -3'
Sequencing Primer
(F):5'- CTGCTCAGCCAGGGTAAGAAC -3'
(R):5'- TTCTGCACAGGACCTAAATTGAATCC -3'
|
Posted On |
2016-10-05 |