Incidental Mutation 'IGL01139:Yipf3'
| ID |
53119 |
| 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 # |
IGL01139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46559019-46563474 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 46561383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087026]
[ENSMUST00000095262]
[ENSMUST00000095263]
[ENSMUST00000123311]
[ENSMUST00000124655]
[ENSMUST00000173349]
[ENSMUST00000142706]
[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: ENSMUST00000149989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174392
|
| 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: 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: 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,259 (GRCm39) |
Y297* |
probably null |
Het |
| Actr3 |
A |
T |
1: 125,333,622 (GRCm39) |
I215N |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,612,376 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
T |
A |
7: 24,625,376 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,421,308 (GRCm39) |
S832R |
unknown |
Het |
| Clca4a |
A |
T |
3: 144,672,030 (GRCm39) |
I304N |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,366,248 (GRCm39) |
P274S |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,143 (GRCm39) |
D211E |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,960 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
C |
T |
18: 25,199,401 (GRCm39) |
P691S |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,945,989 (GRCm38) |
S2465G |
probably damaging |
Het |
| Ftsj1 |
G |
A |
X: 8,112,831 (GRCm39) |
R171C |
probably damaging |
Het |
| Glb1l3 |
G |
A |
9: 26,729,523 (GRCm39) |
T648I |
probably benign |
Het |
| Gm4222 |
T |
A |
2: 89,978,889 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
G |
A |
15: 100,322,096 (GRCm39) |
|
probably benign |
Het |
| Jaml |
C |
A |
9: 45,012,317 (GRCm39) |
T268N |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,549,969 (GRCm39) |
T217A |
possibly damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,897 (GRCm39) |
S555P |
probably benign |
Het |
| Map3k15 |
T |
A |
X: 158,855,875 (GRCm39) |
M350K |
probably damaging |
Het |
| Mipol1 |
C |
A |
12: 57,352,821 (GRCm39) |
Y53* |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,569,315 (GRCm39) |
D1095G |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,255,716 (GRCm39) |
|
probably benign |
Het |
| Nrn1 |
A |
G |
13: 36,914,190 (GRCm39) |
C31R |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,007,079 (GRCm39) |
L579H |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,851,145 (GRCm39) |
I578V |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,969,178 (GRCm39) |
A172V |
probably damaging |
Het |
| Or10h1b |
T |
A |
17: 33,395,756 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or9g4 |
T |
G |
2: 85,504,841 (GRCm39) |
Y218S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,912,918 (GRCm39) |
D748G |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,361,187 (GRCm39) |
Y863N |
probably damaging |
Het |
| Psmc6 |
C |
T |
14: 45,581,167 (GRCm39) |
T321I |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,756,825 (GRCm39) |
*31W |
probably null |
Het |
| Rictor |
A |
C |
15: 6,807,749 (GRCm39) |
K791Q |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,321,104 (GRCm39) |
M470I |
probably damaging |
Het |
| Tex28 |
A |
T |
X: 73,194,830 (GRCm39) |
M367K |
possibly damaging |
Het |
| Thnsl2 |
A |
T |
6: 71,115,718 (GRCm39) |
V163D |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,887 (GRCm39) |
R633Q |
possibly damaging |
Het |
| Trf |
A |
T |
9: 103,100,803 (GRCm39) |
V224D |
probably damaging |
Het |
| Ttc8 |
C |
T |
12: 98,930,804 (GRCm39) |
Q273* |
probably null |
Het |
| Usp9x |
A |
G |
X: 12,970,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,778 (GRCm39) |
W210R |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,826 (GRCm39) |
S718P |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,989 (GRCm39) |
D2932G |
probably damaging |
Het |
| Whamm |
T |
C |
7: 81,245,662 (GRCm39) |
L706P |
probably damaging |
Het |
| Yeats2 |
G |
A |
16: 20,033,143 (GRCm39) |
V45I |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,705,061 (GRCm39) |
V26A |
possibly damaging |
Het |
|
| Other mutations in Yipf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02469:Yipf3
|
APN |
17 |
46,561,384 (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 |
2013-06-21 |
Incidental Mutation