Incidental Mutation 'RF026:Yipf3'
| ID |
604170 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF026 (G1)
|
| Quality Score |
122.457 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46559019-46563474 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
AGAGGA to AGA
at 46559898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087026]
[ENSMUST00000095263]
[ENSMUST00000123311]
[ENSMUST00000124655]
[ENSMUST00000142706]
[ENSMUST00000173232]
[ENSMUST00000173349]
|
| 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: 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 benign
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 |
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 benign
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 |
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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,965 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
| Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,795 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
ACACACTGCC |
ACACACTGCCTAGGGATGTGACAGCCACACTGCC |
9: 86,922,486 (GRCm39) |
|
probably benign |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,596 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
GCAG |
GCAGCAGCAGCCACAGCTACAG |
4: 59,610,655 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTGTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,847 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CCACTGCTGCT |
CCACTGCTGCTTTCACTGCTGCT |
3: 92,925,445 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCTGCCAC |
GCTGCTGCCACTTCTGCTGCCAC |
3: 92,925,450 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GCTG |
GCTGGGATACACGTTAGCAGTGAGGAGCAATCTG |
2: 119,458,085 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GCAGTGAGGAGCAAGCTGAGA |
GCAGTGAGGAGCAAGCTGAGATACACGTTATCAGTGAGGAGCAAGCTGAGA |
2: 119,458,071 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
CCCA |
CCCACCA |
4: 134,013,905 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
T |
TACAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
CA |
CAGCAGTA |
3: 54,635,091 (GRCm39) |
|
probably null |
Het |
| Trav15-2-dv6-2 |
G |
GAAT |
14: 53,887,214 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CAGGC |
CAGGCCCATGCCAAGGC |
6: 125,013,455 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
RF035:Yipf3
|
UTSW |
17 |
46,559,898 (GRCm39) |
unclassified |
probably benign |
|
|
RF039:Yipf3
|
UTSW |
17 |
46,559,898 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCAAGTTGTCAGCTGAG -3'
(R):5'- TGATGAGACTCTTGGCTCTAGATTG -3'
Sequencing Primer
(F):5'- TCAAGTTGTCAGCTGAGCGGAG -3'
(R):5'- TACCTGATCTGCTACCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation