Incidental Mutation 'IGL03070:Yif1a'
| ID |
417476 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Yif1a
|
| Ensembl Gene |
ENSMUSG00000024875 |
| Gene Name |
Yip1 interacting factor homolog A (S. cerevisiae) |
| Synonyms |
54TM, 5330422J23Rik, Yif1p |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
IGL03070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5138566-5142907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5138757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 4
(H4Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025805]
[ENSMUST00000025811]
[ENSMUST00000077066]
[ENSMUST00000140389]
[ENSMUST00000151413]
|
| AlphaFold |
Q91XB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025805
|
| SMART Domains |
Protein: ENSMUSP00000025805
Gene: ENSMUSG00000024873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cornichon
|
7 |
151 |
5.3e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025811
AA Change: H4Q
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025811
Gene: ENSMUSG00000024875
AA Change: H4Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YIF1
|
57 |
286 |
8.3e-84 |
PFAM |
|
Pfam:Yip1
|
113 |
255 |
9.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077066
|
| SMART Domains |
Protein: ENSMUSP00000076321
Gene: ENSMUSG00000061451
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM151
|
26 |
373 |
8.6e-179 |
PFAM |
|
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151413
|
| SMART Domains |
Protein: ENSMUSP00000121084
Gene: ENSMUSG00000061451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
| Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
| Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
| Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
| Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
| Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
| Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
| Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
| Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
| Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
| Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
| Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
| Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Yif1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01987:Yif1a
|
APN |
19 |
5,141,625 (GRCm39) |
missense |
probably benign |
|
|
IGL03067:Yif1a
|
APN |
19 |
5,139,813 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1817:Yif1a
|
UTSW |
19 |
5,142,333 (GRCm39) |
nonsense |
probably null |
|
|
R2027:Yif1a
|
UTSW |
19 |
5,139,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Yif1a
|
UTSW |
19 |
5,138,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5942:Yif1a
|
UTSW |
19 |
5,141,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Yif1a
|
UTSW |
19 |
5,142,369 (GRCm39) |
missense |
probably benign |
|
|
R6524:Yif1a
|
UTSW |
19 |
5,142,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Yif1a
|
UTSW |
19 |
5,139,818 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7976:Yif1a
|
UTSW |
19 |
5,139,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Yif1a
|
UTSW |
19 |
5,141,615 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation