Incidental Mutation 'RF033:AI837181'
ID |
604466 |
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 # |
RF033 (G1)
|
Quality Score |
134.467 |
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: 99.3%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TTC |
TTCGTC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTCTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
Luzp1 |
A |
AGGTGTCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
TGTTT |
TGTTTGTTGGTTT |
4: 107,047,725 (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 |
5,475,252 (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 |
|
RF042:AI837181
|
UTSW |
19 |
5,475,265 (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 |