Incidental Mutation 'P0027:Yif1b'
| ID |
8108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yif1b
|
| Ensembl Gene |
ENSMUSG00000030588 |
| Gene Name |
Yip1 interacting factor homolog B (S. cerevisiae) |
| Synonyms |
9430029K10Rik |
| MMRRC Submission |
038280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
P0027 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28937754-28947022 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 28938038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032809]
[ENSMUST00000108237]
[ENSMUST00000108237]
[ENSMUST00000108238]
[ENSMUST00000138128]
[ENSMUST00000142519]
|
| AlphaFold |
Q9CX30 |
| 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 null
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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
| Validation Efficiency |
93% (53/57) |
| Allele List at MGI |
All alleles(19) : Targeted(3) Gene trapped(16)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
| Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
| Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
| Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,941,492 (GRCm39) |
D159G |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
| Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
| Phactr4 |
G |
C |
4: 132,098,401 (GRCm39) |
T252R |
probably damaging |
Het |
| Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
| Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
| Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
|
| Other mutations in Yif1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03172:Yif1b
|
APN |
7 |
28,937,873 (GRCm39) |
splice site |
probably null |
|
|
R3605:Yif1b
|
UTSW |
7 |
28,937,835 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3607:Yif1b
|
UTSW |
7 |
28,937,835 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5244:Yif1b
|
UTSW |
7 |
28,943,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Yif1b
|
UTSW |
7 |
28,945,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6221:Yif1b
|
UTSW |
7 |
28,945,207 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7779:Yif1b
|
UTSW |
7 |
28,945,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Yif1b
|
UTSW |
7 |
28,944,045 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8090:Yif1b
|
UTSW |
7 |
28,943,726 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8749:Yif1b
|
UTSW |
7 |
28,946,690 (GRCm39) |
missense |
probably benign |
0.07 |
|
T0722:Yif1b
|
UTSW |
7 |
28,938,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
U24488:Yif1b
|
UTSW |
7 |
28,943,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Protein Function and Prediction |
Yif1B is homologous to Yif1p (1), a protein in yeast that functions in vesicular trafficking between the endoplasmic reticulum (ER) and the Golgi apparatus (2). In mammals, it was shown that Yif1B is involved in ER/Golgi trafficking and is involved in targeting of 5-HT1AR to the neuronal dendrites (1).
|
| Expression/Localization |
Yif1B is highly expressed in raphe 5-HT1AR-expressing neurons of the brain (1). Yif1B is colocalized with 5-HT1AR in small vesicles involved in transient intracellular trafficking (1).
|
| References |
1. Carrel, D., Masson, J., Al Awabdh, S., Capra, C. B., Lenkei, Z., Hamon, M., Emerit, M. B., and Darmon, M. (2008) Targeting of the 5-HT1A Serotonin Receptor to Neuronal Dendrites is Mediated by Yif1B. J Neurosci. 28, 8063-8073.
2. Matern, H., Yang, X., Andrulis, E., Sternglanz, R., Trepte, H. H., and Gallwitz, D. (2000) A Novel Golgi Membrane Protein is Part of a GTPase-Binding Protein Complex Involved in Vesicle Targeting. EMBO J. 19, 4485-4492. |
| Posted On |
2012-11-20 |
| Science Writer |
Anne Murray |
Incidental Mutation