Incidental Mutation 'RF042:AI837181'
| ID |
604890 |
| 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 # |
RF042 (G1)
|
| Quality Score |
151.467 |
|
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) |
CG to CGGTG
at 5475265 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: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
| Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
| Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (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 |
5,475,245 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:AI837181
|
UTSW |
19 |
5,475,246 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACGAACGTTAGCTCCG -3'
(R):5'- TCGAACCAGATAGGACCAGG -3'
Sequencing Primer
(F):5'- GAACGTTAGCTCCGCCTCC -3'
(R):5'- AGATAGGACCAGGCCTGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation