Incidental Mutation 'IGL02469:Yipf3'
| ID |
294677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Yipf3
|
| Ensembl Gene |
ENSMUSG00000071074 |
| Gene Name |
Yip1 domain family, member 3 |
| Synonyms |
D17Wsu94e |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
IGL02469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46559019-46563474 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 46561384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087026]
[ENSMUST00000095262]
[ENSMUST00000095263]
[ENSMUST00000123311]
[ENSMUST00000124655]
[ENSMUST00000142706]
[ENSMUST00000173349]
[ENSMUST00000173232]
|
| AlphaFold |
Q3UDR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087026
|
| SMART Domains |
Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
60 |
339 |
4.53e-124 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095262
|
| SMART Domains |
Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
27 |
54 |
2.42e1 |
SMART |
|
LRR
|
84 |
111 |
3.47e1 |
SMART |
|
LRR
|
112 |
139 |
1.84e0 |
SMART |
|
LRR
|
143 |
171 |
1.66e2 |
SMART |
|
LRR
|
172 |
199 |
5.41e0 |
SMART |
|
LRR
|
200 |
227 |
3.54e0 |
SMART |
|
LRR
|
229 |
256 |
5.48e1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000095263
|
| SMART Domains |
Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
146 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
212 |
234 |
N/A |
INTRINSIC |
|
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
|
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123311
|
| SMART Domains |
Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
88 |
110 |
N/A |
INTRINSIC |
|
transmembrane domain
|
117 |
139 |
N/A |
INTRINSIC |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
transmembrane domain
|
177 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124655
|
| SMART Domains |
Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
1 |
253 |
2.14e-93 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127378
|
| SMART Domains |
Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yip1
|
30 |
178 |
4.6e-13 |
PFAM |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142706
|
| SMART Domains |
Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
60 |
255 |
9.13e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173349
|
| SMART Domains |
Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLD
|
42 |
170 |
2.3e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173232
|
| SMART Domains |
Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_L
|
61 |
100 |
1.7e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,645,074 (GRCm39) |
Q975L |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,783,522 (GRCm39) |
Y301C |
probably damaging |
Het |
| Akr7a5 |
T |
A |
4: 139,041,492 (GRCm39) |
S134T |
probably damaging |
Het |
| Aldh4a1 |
C |
T |
4: 139,375,472 (GRCm39) |
T527I |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,676,676 (GRCm39) |
V146A |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,640 (GRCm39) |
|
probably benign |
Het |
| Caml |
T |
C |
13: 55,776,390 (GRCm39) |
S210P |
probably damaging |
Het |
| Casp1 |
A |
C |
9: 5,303,105 (GRCm39) |
R186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,807,557 (GRCm39) |
Q361L |
possibly damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
| Commd6 |
A |
G |
14: 101,874,463 (GRCm39) |
V47A |
probably damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,572,138 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,863,215 (GRCm39) |
D721G |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,532 (GRCm39) |
S332G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,909 (GRCm39) |
E1834G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,460 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,411 (GRCm39) |
L389P |
probably damaging |
Het |
| Lipa |
T |
C |
19: 34,471,435 (GRCm39) |
D380G |
probably damaging |
Het |
| Marchf5 |
T |
G |
19: 37,194,674 (GRCm39) |
W111G |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,499 (GRCm39) |
T7A |
possibly damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,627,774 (GRCm39) |
I391N |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,114 (GRCm39) |
S544G |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,674 (GRCm39) |
K530E |
probably damaging |
Het |
| Spaca3 |
G |
A |
11: 80,754,911 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,920,565 (GRCm39) |
S544G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,585,967 (GRCm39) |
E526G |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,523,314 (GRCm39) |
I466K |
probably benign |
Het |
| Ttbk1 |
A |
G |
17: 46,781,556 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,435 (GRCm39) |
L189P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,751,547 (GRCm39) |
L530* |
probably null |
Het |
|
| Other mutations in Yipf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Yipf3
|
APN |
17 |
46,561,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02836:Yipf3
|
APN |
17 |
46,562,520 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0077:Yipf3
|
UTSW |
17 |
46,562,503 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0334:Yipf3
|
UTSW |
17 |
46,559,238 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0398:Yipf3
|
UTSW |
17 |
46,562,411 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1163:Yipf3
|
UTSW |
17 |
46,562,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1398:Yipf3
|
UTSW |
17 |
46,562,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Yipf3
|
UTSW |
17 |
46,561,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Yipf3
|
UTSW |
17 |
46,561,787 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7238:Yipf3
|
UTSW |
17 |
46,562,585 (GRCm39) |
missense |
probably benign |
|
|
R7347:Yipf3
|
UTSW |
17 |
46,561,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7355:Yipf3
|
UTSW |
17 |
46,561,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7366:Yipf3
|
UTSW |
17 |
46,559,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7840:Yipf3
|
UTSW |
17 |
46,561,790 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9124:Yipf3
|
UTSW |
17 |
46,559,895 (GRCm39) |
missense |
probably benign |
|
|
R9223:Yipf3
|
UTSW |
17 |
46,559,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF026:Yipf3
|
UTSW |
17 |
46,559,898 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:Yipf3
|
UTSW |
17 |
46,559,898 (GRCm39) |
unclassified |
probably benign |
|
|
RF039:Yipf3
|
UTSW |
17 |
46,559,898 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation