Incidental Mutation 'RF026:AI837181'
| ID |
604174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AI837181
|
| Ensembl Gene |
ENSMUSG00000047423 |
| Gene Name |
expressed sequence AI837181 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF026 (G1)
|
| Quality Score |
122.467 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5475172-5477341 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCG to GCGTCG
at 5475252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025853]
[ENSMUST00000113673]
[ENSMUST00000113674]
[ENSMUST00000136579]
[ENSMUST00000148219]
[ENSMUST00000159759]
|
| AlphaFold |
Q8VD62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025853
|
| SMART Domains |
Protein: ENSMUSP00000025853
Gene: ENSMUSG00000024914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Histone
|
4 |
76 |
2.1e-8 |
PFAM |
|
Pfam:CBFD_NFYB_HMF
|
10 |
74 |
1e-20 |
PFAM |
|
low complexity region
|
103 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113673
|
| SMART Domains |
Protein: ENSMUSP00000109303
Gene: ENSMUSG00000024914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFD_NFYB_HMF
|
1 |
54 |
6.7e-14 |
PFAM |
|
Pfam:Histone
|
1 |
56 |
1.8e-6 |
PFAM |
|
low complexity region
|
83 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113674
|
| SMART Domains |
Protein: ENSMUSP00000109304
Gene: ENSMUSG00000024914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFD_NFYB_HMF
|
10 |
74 |
5e-22 |
PFAM |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136579
|
| SMART Domains |
Protein: ENSMUSP00000133692
Gene: ENSMUSG00000024914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFD_NFYB_HMF
|
1 |
54 |
8.7e-14 |
PFAM |
|
Pfam:Histone
|
1 |
56 |
2.3e-6 |
PFAM |
|
low complexity region
|
83 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148219
|
| SMART Domains |
Protein: ENSMUSP00000121162
Gene: ENSMUSG00000024914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Histone
|
4 |
76 |
9.4e-10 |
PFAM |
|
Pfam:CBFD_NFYB_HMF
|
10 |
74 |
4.5e-22 |
PFAM |
|
low complexity region
|
103 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159759
|
| SMART Domains |
Protein: ENSMUSP00000125651
Gene: ENSMUSG00000047423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
Pfam:DUF1917
|
139 |
259 |
6.1e-19 |
PFAM |
|
| 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 |
|---|
| 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 |
| Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CAGGC |
CAGGCCCATGCCAAGGC |
6: 125,013,455 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in AI837181 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4548:AI837181
|
UTSW |
19 |
5,475,265 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:AI837181
|
UTSW |
19 |
5,475,259 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:AI837181
|
UTSW |
19 |
5,475,257 (GRCm39) |
small insertion |
probably benign |
|
|
R0357:AI837181
|
UTSW |
19 |
5,476,731 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1944:AI837181
|
UTSW |
19 |
5,476,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4846:AI837181
|
UTSW |
19 |
5,476,329 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7269:AI837181
|
UTSW |
19 |
5,476,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:AI837181
|
UTSW |
19 |
5,476,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:AI837181
|
UTSW |
19 |
5,476,319 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9057:AI837181
|
UTSW |
19 |
5,476,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF002:AI837181
|
UTSW |
19 |
5,475,263 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:AI837181
|
UTSW |
19 |
5,475,262 (GRCm39) |
small insertion |
probably benign |
|
|
RF008:AI837181
|
UTSW |
19 |
5,475,266 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:AI837181
|
UTSW |
19 |
5,475,262 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:AI837181
|
UTSW |
19 |
5,475,264 (GRCm39) |
small insertion |
probably benign |
|
|
RF012:AI837181
|
UTSW |
19 |
5,475,255 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:AI837181
|
UTSW |
19 |
5,475,260 (GRCm39) |
small insertion |
probably benign |
|
|
RF021:AI837181
|
UTSW |
19 |
5,475,262 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:AI837181
|
UTSW |
19 |
5,475,254 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:AI837181
|
UTSW |
19 |
5,475,263 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:AI837181
|
UTSW |
19 |
5,475,254 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:AI837181
|
UTSW |
19 |
5,475,246 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:AI837181
|
UTSW |
19 |
5,475,265 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:AI837181
|
UTSW |
19 |
5,475,252 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:AI837181
|
UTSW |
19 |
5,475,266 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:AI837181
|
UTSW |
19 |
5,475,264 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:AI837181
|
UTSW |
19 |
5,475,254 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:AI837181
|
UTSW |
19 |
5,475,257 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:AI837181
|
UTSW |
19 |
5,475,265 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:AI837181
|
UTSW |
19 |
5,475,245 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:AI837181
|
UTSW |
19 |
5,475,246 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTACGAACGTTAGCTCCGC -3'
(R):5'- ACTCGAACCAGATAGGACCAGG -3'
Sequencing Primer
(F):5'- TTAGCTCCGCCTCCCGAAG -3'
(R):5'- AGATAGGACCAGGCCTGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation