Incidental Mutation 'IGL01877:Yipf4'
| ID |
178920 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Yipf4
|
| Ensembl Gene |
ENSMUSG00000024072 |
| Gene Name |
Yip1 domain family, member 4 |
| Synonyms |
2310034L04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL01877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
74796488-74807272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74799383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 41
(L41R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024873]
|
| AlphaFold |
Q8C407 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024873
AA Change: L41R
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024873
Gene: ENSMUSG00000024072
AA Change: L41R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Pfam:Yip1
|
83 |
240 |
3.8e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
G |
8: 41,248,982 (GRCm39) |
E364G |
probably benign |
Het |
| Aknad1 |
C |
T |
3: 108,682,406 (GRCm39) |
P523S |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,393 (GRCm39) |
N1875K |
possibly damaging |
Het |
| Ano4 |
A |
T |
10: 88,860,932 (GRCm39) |
Y179* |
probably null |
Het |
| Cacna1h |
A |
T |
17: 25,607,024 (GRCm39) |
F965I |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,028,567 (GRCm39) |
I1043F |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,112,315 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpr21 |
A |
C |
2: 37,408,093 (GRCm39) |
N213T |
probably benign |
Het |
| Hexa |
T |
C |
9: 59,471,163 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,093,525 (GRCm39) |
S94P |
probably damaging |
Het |
| Itga6 |
T |
C |
2: 71,668,624 (GRCm39) |
I521T |
probably benign |
Het |
| Jmjd6 |
G |
T |
11: 116,733,519 (GRCm39) |
Q53K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,085,671 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,583,359 (GRCm39) |
V79A |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,286,511 (GRCm39) |
M519T |
unknown |
Het |
| Slco1c1 |
T |
C |
6: 141,500,879 (GRCm39) |
S454P |
probably damaging |
Het |
| Tubb1 |
C |
A |
2: 174,298,691 (GRCm39) |
S124R |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,294 (GRCm39) |
I408V |
probably benign |
Het |
| Unc13b |
T |
C |
4: 43,249,583 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r80 |
A |
G |
10: 79,007,334 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,334,218 (GRCm39) |
S267P |
probably damaging |
Het |
|
| Other mutations in Yipf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1428:Yipf4
|
UTSW |
17 |
74,805,300 (GRCm39) |
splice site |
probably benign |
|
|
R1470:Yipf4
|
UTSW |
17 |
74,800,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1470:Yipf4
|
UTSW |
17 |
74,800,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3747:Yipf4
|
UTSW |
17 |
74,803,667 (GRCm39) |
splice site |
probably null |
|
|
R4581:Yipf4
|
UTSW |
17 |
74,806,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4863:Yipf4
|
UTSW |
17 |
74,801,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4871:Yipf4
|
UTSW |
17 |
74,801,089 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5185:Yipf4
|
UTSW |
17 |
74,799,470 (GRCm39) |
missense |
probably null |
0.90 |
|
R7338:Yipf4
|
UTSW |
17 |
74,796,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8190:Yipf4
|
UTSW |
17 |
74,800,967 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9499:Yipf4
|
UTSW |
17 |
74,806,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Yipf4
|
UTSW |
17 |
74,806,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Yipf4
|
UTSW |
17 |
74,806,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Yipf4
|
UTSW |
17 |
74,806,078 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Yipf4
|
UTSW |
17 |
74,805,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation