Incidental Mutation 'RF025:AI837181'
| ID |
604144 |
| 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 # |
RF025 (G1)
|
| Quality Score |
101.467 |
|
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) |
GGC to GGCCGC
at 5475254 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGTTGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGC |
GGCTGC |
17: 5,045,871 (GRCm39) |
|
probably benign |
Het |
| AY358078 |
CAGGT |
CAGGTAGGATAAGGT |
14: 52,043,046 (GRCm39) |
|
probably null |
Het |
| AY761185 |
GCACTGTGGGC |
G |
8: 21,433,918 (GRCm39) |
|
probably null |
Het |
| Bcar1 |
C |
A |
8: 112,440,809 (GRCm39) |
R395L |
possibly damaging |
Het |
| Begain |
CGCCGC |
CGCCGCGGCCGC |
12: 108,999,350 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,296 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
GC |
GCTGTGGCTGTGTC |
19: 47,129,715 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
C |
CTGTGAATGTGGA |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCCCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGGGA |
AGGGATGTGACAGTCACACTGCCCTGGGA |
9: 86,922,497 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCTGGCCT |
GCTGGCCTCTGCGGCAGACCTGGCCT |
2: 152,327,743 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
CTGGC |
CTGGCGTTTGCGGCAGAGATGGC |
2: 152,327,744 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGCGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
CCTACCTCGTT |
CCTACCTCGTTTTGGGGGCGGAGAACAGTTTCTACCTCGTT |
9: 20,821,431 (GRCm39) |
|
probably null |
Het |
| Dock4 |
GTGCCGGTGCCGGT |
G |
12: 40,894,392 (GRCm39) |
|
probably null |
Het |
| Efhd2 |
CCGCC |
CCGCCGACGCC |
4: 141,602,082 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
CCTGGGC |
CC |
4: 136,660,348 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
CTCA |
CTCAATCA |
6: 137,494,064 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
CAGCCAGAGC |
CAGC |
12: 80,522,729 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,614 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAGGAAAGGT |
G |
15: 100,325,033 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
TGTG |
TGTGCGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
GGAG |
GG |
4: 133,305,621 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
GCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
GCAGGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,637 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTATTCCT |
X: 94,984,226 (GRCm39) |
|
probably null |
Het |
| Lcmt1 |
GGC |
GGCCGCGGGGCGC |
7: 122,969,057 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,432 (GRCm39) |
|
probably benign |
Het |
| Map1a |
AGC |
AGCGCCAGCTCCAGCTCCAGCTCCAGCTCCCGC |
2: 121,136,775 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
CCCCCCCC |
CCCCCCCCCCCCCC |
17: 36,165,299 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGTAG |
5: 111,567,571 (GRCm39) |
|
probably null |
Het |
| Morn4 |
GCAG |
GCAGGGAGTCAGTCAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Muc21 |
CGGGGTAGGTGTAGATCCTGAGGCAGTGCTGGATGCAGGGGTGGTTGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATGCAG |
CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATGCAG |
17: 35,933,771 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCAGCTGGGGACTTGG |
CCTCAGCTGGGGACTTGGGCTCAGCTGGGGACTTGG |
11: 4,891,003 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGG |
GGGTACTTGTCCTCACCTTGG |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
CCC |
CCCCACC |
4: 134,013,905 (GRCm39) |
|
probably null |
Het |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
| Polr1has |
CACCACCACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 37,275,940 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCGGC |
GCGGCAACGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
TGTGCCTGT |
TGTGCCTGTGCCTGT |
11: 32,373,057 (GRCm39) |
|
probably benign |
Het |
| Slamf6 |
GAGTATTATTCTTTTGTTTGTTTGTTTGTTTGTTTGTTTACAG |
GAG |
1: 171,769,149 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCAACA |
GCAACAACA |
17: 48,097,013 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
CTCCTGGCAGT |
CT |
2: 120,355,026 (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 |
|
|
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 |
|
|
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