Incidental Mutation 'RF045:AI837181'
| ID |
605010 |
| 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 # |
RF045 (G1)
|
| Quality Score |
114.467 |
|
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 GCGCCG
at 5475246 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: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Cdsn |
CAGC |
CAGCAGCTCTCAGTCAGGAAGTAGC |
17: 35,865,865 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ATGT |
ATGTGAGACACACTGCCCAGGGATGTGT |
9: 86,922,455 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGAA |
9: 86,922,500 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
C |
T |
4: 115,289,690 (GRCm39) |
H186Y |
probably benign |
Het |
| Dbr1 |
AAGAGGA |
AAGAGGAAGAGGA |
9: 99,465,724 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TACCTCGTT |
TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT |
9: 20,821,433 (GRCm39) |
|
probably benign |
Het |
| Ecrg4 |
TTCTGTA |
T |
1: 43,776,352 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CCGGCT |
CCGGCTGCGGCT |
X: 71,313,651 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTCAGGCT |
C |
X: 71,313,787 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
| Kcnq3 |
CCGCCAGCCGC |
CC |
15: 66,158,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGTCACAG |
1: 83,019,864 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACCACAGCCACAGCCACCACAGC |
CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,982 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,599 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCC |
CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
ACT |
ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT |
6: 125,156,199 (GRCm39) |
|
probably null |
Het |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,546,487 (GRCm39) |
R380L |
possibly damaging |
Het |
| Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,458,091 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Ptms |
CTCCTC |
CTCCTCCTC |
6: 124,891,413 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
CTGTT |
CTGTTGTT |
9: 66,012,204 (GRCm39) |
|
probably benign |
Het |
| Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
| Supt20 |
GCAGCA |
GCAGCATCAGCA |
3: 54,635,087 (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 |
|
|
RF026:AI837181
|
UTSW |
19 |
5,475,252 (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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTACGAACGTTAGCTCCG -3'
(R):5'- TCGAACCAGATAGGACCAGG -3'
Sequencing Primer
(F):5'- GAACGTTAGCTCCGCCTCC -3'
(R):5'- AGATAGGACCAGGCCTGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation