Incidental Mutation 'R4846:AI837181'
ID |
372195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AI837181
|
Ensembl Gene |
ENSMUSG00000047423 |
Gene Name |
expressed sequence AI837181 |
Synonyms |
|
MMRRC Submission |
042459-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4846 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5475172-5477341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5476329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 164
(Q164R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025853]
[ENSMUST00000113673]
[ENSMUST00000113674]
[ENSMUST00000159759]
[ENSMUST00000148219]
[ENSMUST00000136579]
|
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 |
noncoding transcript
Transcript: ENSMUST00000054477
|
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 |
noncoding transcript
Transcript: ENSMUST00000124478
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126908
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159759
AA Change: Q164R
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125651 Gene: ENSMUSG00000047423 AA Change: Q164R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127043
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128542
|
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: 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 |
|
Meta Mutation Damage Score |
0.0628 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
T |
A |
14: 70,393,392 (GRCm39) |
H299L |
probably damaging |
Het |
Abcb4 |
C |
T |
5: 8,985,180 (GRCm39) |
A687V |
probably benign |
Het |
Abtb3 |
A |
G |
10: 85,465,130 (GRCm39) |
T657A |
probably damaging |
Het |
Adam20 |
A |
G |
8: 41,248,048 (GRCm39) |
T53A |
probably benign |
Het |
Afg1l |
G |
A |
10: 42,330,490 (GRCm39) |
T59I |
probably benign |
Het |
Anapc15 |
T |
A |
7: 101,546,974 (GRCm39) |
I12N |
probably benign |
Het |
Ankrd55 |
A |
C |
13: 112,499,988 (GRCm39) |
E278D |
probably benign |
Het |
Axin2 |
A |
G |
11: 108,833,125 (GRCm39) |
T437A |
probably benign |
Het |
BC051665 |
T |
C |
13: 60,931,895 (GRCm39) |
D168G |
probably damaging |
Het |
Cd200 |
C |
T |
16: 45,212,664 (GRCm39) |
R261H |
probably benign |
Het |
Clk1 |
G |
A |
1: 58,460,261 (GRCm39) |
S123L |
probably benign |
Het |
Csrnp2 |
A |
T |
15: 100,382,571 (GRCm39) |
D156E |
probably damaging |
Het |
Ctss |
C |
T |
3: 95,452,695 (GRCm39) |
Q159* |
probably null |
Het |
Dennd2b |
C |
A |
7: 109,156,043 (GRCm39) |
E236* |
probably null |
Het |
Dip2a |
A |
G |
10: 76,157,327 (GRCm39) |
S93P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Ephb6 |
G |
A |
6: 41,593,743 (GRCm39) |
R542Q |
probably benign |
Het |
Fmo3 |
T |
C |
1: 162,781,880 (GRCm39) |
D491G |
possibly damaging |
Het |
Galnt14 |
A |
T |
17: 73,843,888 (GRCm39) |
M140K |
probably benign |
Het |
Ghsr |
T |
C |
3: 27,425,986 (GRCm39) |
V14A |
probably benign |
Het |
Gm17546 |
C |
A |
15: 95,727,843 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hc |
A |
G |
2: 34,909,682 (GRCm39) |
V866A |
probably benign |
Het |
Hoxb6 |
G |
A |
11: 96,190,348 (GRCm39) |
G116R |
probably damaging |
Het |
Hykk |
A |
G |
9: 54,827,890 (GRCm39) |
Y43C |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,711,975 (GRCm39) |
T495A |
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,233,798 (GRCm39) |
V755E |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,309,457 (GRCm39) |
D2814V |
probably damaging |
Het |
Mbd5 |
T |
A |
2: 49,147,009 (GRCm39) |
N406K |
probably damaging |
Het |
Met |
A |
T |
6: 17,491,928 (GRCm39) |
D230V |
probably damaging |
Het |
Mrgprx2 |
A |
T |
7: 48,132,584 (GRCm39) |
V78D |
probably damaging |
Het |
Mrpl20 |
A |
G |
4: 155,892,993 (GRCm39) |
T112A |
possibly damaging |
Het |
Nek11 |
T |
A |
9: 105,040,362 (GRCm39) |
E566D |
probably damaging |
Het |
Nostrin |
T |
C |
2: 69,005,923 (GRCm39) |
S235P |
probably damaging |
Het |
Npas4 |
C |
A |
19: 5,036,805 (GRCm39) |
S453I |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Psg18 |
A |
T |
7: 18,084,711 (GRCm39) |
Y128* |
probably null |
Het |
Ptges3l |
A |
T |
11: 101,310,010 (GRCm39) |
|
probably benign |
Het |
Pus1 |
T |
C |
5: 110,927,796 (GRCm39) |
|
probably benign |
Het |
Raf1 |
T |
A |
6: 115,621,544 (GRCm39) |
S12C |
possibly damaging |
Het |
Rps6-ps2 |
T |
G |
8: 89,533,206 (GRCm39) |
|
noncoding transcript |
Het |
Slc5a4b |
A |
G |
10: 75,898,073 (GRCm39) |
L547P |
probably damaging |
Het |
Socs3 |
A |
G |
11: 117,858,654 (GRCm39) |
S135P |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,890,047 (GRCm39) |
D591G |
probably benign |
Het |
Stra6l |
G |
A |
4: 45,873,682 (GRCm39) |
V281M |
possibly damaging |
Het |
Suco |
G |
A |
1: 161,661,977 (GRCm39) |
T818I |
possibly damaging |
Het |
Syde1 |
A |
T |
10: 78,424,731 (GRCm39) |
V367D |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,353,865 (GRCm39) |
L932* |
probably null |
Het |
Trpm7 |
G |
A |
2: 126,655,105 (GRCm39) |
L1278F |
possibly damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,490 (GRCm39) |
T116S |
probably damaging |
Het |
Wfdc6b |
A |
G |
2: 164,459,214 (GRCm39) |
Q92R |
possibly damaging |
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 |
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 |
|
RF045:AI837181
|
UTSW |
19 |
5,475,246 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCAAGTTACTCGCTATGGGG -3'
(R):5'- AGCACGAATGGCAGAATCTG -3'
Sequencing Primer
(F):5'- GACCCAGGTTCACCCAACTCTG -3'
(R):5'- CGTGAAGTCGTCCGTGTAAACAC -3'
|
Posted On |
2016-03-01 |