Incidental Mutation 'R8471:Rai14'
ID |
657042 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rai14
|
Ensembl Gene |
ENSMUSG00000022246 |
Gene Name |
retinoic acid induced 14 |
Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
MMRRC Submission |
067915-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
R8471 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10575245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 571
(K571R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
AlphaFold |
Q9EP71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090339
AA Change: K600R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000087815 Gene: ENSMUSG00000022246 AA Change: K600R
Domain | Start | End | E-Value | Type |
Blast:ANK
|
18 |
48 |
4e-10 |
BLAST |
ANK
|
52 |
81 |
1.66e-6 |
SMART |
ANK
|
85 |
117 |
7.02e-5 |
SMART |
ANK
|
118 |
147 |
2.1e-3 |
SMART |
ANK
|
151 |
180 |
2.16e-5 |
SMART |
ANK
|
184 |
213 |
2.85e-5 |
SMART |
ANK
|
217 |
247 |
9.33e2 |
SMART |
low complexity region
|
343 |
357 |
N/A |
INTRINSIC |
Blast:HAMP
|
595 |
646 |
6e-19 |
BLAST |
low complexity region
|
897 |
931 |
N/A |
INTRINSIC |
Blast:ANK
|
944 |
977 |
6e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169385
AA Change: K600R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000126325 Gene: ENSMUSG00000022246 AA Change: K600R
Domain | Start | End | E-Value | Type |
Blast:ANK
|
18 |
48 |
4e-10 |
BLAST |
ANK
|
52 |
81 |
1.66e-6 |
SMART |
ANK
|
85 |
117 |
7.02e-5 |
SMART |
ANK
|
118 |
147 |
2.1e-3 |
SMART |
ANK
|
151 |
180 |
2.16e-5 |
SMART |
ANK
|
184 |
213 |
2.85e-5 |
SMART |
ANK
|
217 |
247 |
9.33e2 |
SMART |
low complexity region
|
343 |
357 |
N/A |
INTRINSIC |
Blast:HAMP
|
595 |
646 |
6e-19 |
BLAST |
low complexity region
|
897 |
931 |
N/A |
INTRINSIC |
Blast:ANK
|
944 |
977 |
6e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227506
AA Change: K571R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Meta Mutation Damage Score |
0.0593 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
T |
A |
1: 57,422,223 (GRCm39) |
C200S |
probably damaging |
Het |
Abca1 |
G |
A |
4: 53,044,187 (GRCm39) |
H1812Y |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,594,591 (GRCm39) |
D4141V |
probably benign |
Het |
Arhgef38 |
A |
T |
3: 132,940,472 (GRCm39) |
V38E |
probably damaging |
Het |
Arl15 |
T |
A |
13: 114,037,632 (GRCm39) |
|
probably benign |
Het |
Cwh43 |
T |
A |
5: 73,591,644 (GRCm39) |
L493Q |
probably damaging |
Het |
Dnah7b |
C |
T |
1: 46,138,650 (GRCm39) |
H231Y |
possibly damaging |
Het |
Eif2d |
C |
A |
1: 131,092,155 (GRCm39) |
Q309K |
probably benign |
Het |
Epop |
A |
G |
11: 97,520,073 (GRCm39) |
V12A |
possibly damaging |
Het |
Fkbp5 |
C |
T |
17: 28,634,943 (GRCm39) |
V189I |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,578,499 (GRCm39) |
M343V |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,407,192 (GRCm39) |
L1469* |
probably null |
Het |
Man2b2 |
A |
T |
5: 36,979,183 (GRCm39) |
W286R |
probably damaging |
Het |
Naip5 |
G |
T |
13: 100,358,153 (GRCm39) |
Q1028K |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,885 (GRCm39) |
D455V |
possibly damaging |
Het |
Or10ag60 |
A |
G |
2: 87,437,989 (GRCm39) |
R86G |
probably damaging |
Het |
Or10d5b |
A |
G |
9: 39,885,901 (GRCm39) |
S73P |
unknown |
Het |
Or1e32 |
A |
T |
11: 73,705,309 (GRCm39) |
F200I |
probably benign |
Het |
Or5af1 |
A |
G |
11: 58,722,597 (GRCm39) |
M206V |
probably benign |
Het |
Pcdh12 |
G |
A |
18: 38,415,308 (GRCm39) |
P606S |
probably benign |
Het |
Plec |
A |
G |
15: 76,070,620 (GRCm39) |
V894A |
probably damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,021,901 (GRCm39) |
N333S |
probably benign |
Het |
Ptger4 |
A |
T |
15: 5,271,800 (GRCm39) |
M273K |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,464,411 (GRCm39) |
D1372G |
probably benign |
Het |
Rarb |
T |
A |
14: 16,548,456 (GRCm38) |
|
probably benign |
Het |
Ros1 |
A |
G |
10: 51,997,078 (GRCm39) |
V1198A |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,484,125 (GRCm39) |
V3879A |
probably damaging |
Het |
Serpinb6d |
A |
T |
13: 33,848,137 (GRCm39) |
I34F |
probably damaging |
Het |
Slc44a2 |
T |
G |
9: 21,253,265 (GRCm39) |
I62S |
probably null |
Het |
Snx9 |
T |
A |
17: 5,940,365 (GRCm39) |
W39R |
probably damaging |
Het |
Tbcb |
A |
T |
7: 29,931,100 (GRCm39) |
S7T |
probably benign |
Het |
Ttc21a |
C |
A |
9: 119,792,242 (GRCm39) |
|
probably null |
Het |
Ttc7 |
G |
A |
17: 87,601,454 (GRCm39) |
G63R |
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,929,440 (GRCm39) |
V65D |
probably damaging |
Het |
Zfp518b |
T |
C |
5: 38,831,426 (GRCm39) |
Y193C |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,982,914 (GRCm39) |
I515N |
probably damaging |
Het |
|
Other mutations in Rai14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01107:Rai14
|
APN |
15 |
10,599,797 (GRCm39) |
splice site |
probably benign |
|
IGL01625:Rai14
|
APN |
15 |
10,572,460 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01925:Rai14
|
APN |
15 |
10,595,948 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02053:Rai14
|
APN |
15 |
10,633,242 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02531:Rai14
|
APN |
15 |
10,574,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02748:Rai14
|
APN |
15 |
10,589,421 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02945:Rai14
|
APN |
15 |
10,574,795 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4618001:Rai14
|
UTSW |
15 |
10,575,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R1400:Rai14
|
UTSW |
15 |
10,571,634 (GRCm39) |
missense |
probably damaging |
0.98 |
R1583:Rai14
|
UTSW |
15 |
10,588,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R1686:Rai14
|
UTSW |
15 |
10,592,282 (GRCm39) |
missense |
probably damaging |
0.98 |
R1721:Rai14
|
UTSW |
15 |
10,633,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R1867:Rai14
|
UTSW |
15 |
10,633,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Rai14
|
UTSW |
15 |
10,633,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Rai14
|
UTSW |
15 |
10,595,067 (GRCm39) |
splice site |
probably null |
|
R2118:Rai14
|
UTSW |
15 |
10,575,252 (GRCm39) |
missense |
probably benign |
0.00 |
R3161:Rai14
|
UTSW |
15 |
10,633,250 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3162:Rai14
|
UTSW |
15 |
10,633,250 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3162:Rai14
|
UTSW |
15 |
10,633,250 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4049:Rai14
|
UTSW |
15 |
10,592,298 (GRCm39) |
missense |
probably benign |
0.30 |
R4611:Rai14
|
UTSW |
15 |
10,592,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R4760:Rai14
|
UTSW |
15 |
10,575,776 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4863:Rai14
|
UTSW |
15 |
10,572,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R5022:Rai14
|
UTSW |
15 |
10,574,592 (GRCm39) |
missense |
probably damaging |
0.96 |
R5110:Rai14
|
UTSW |
15 |
10,690,496 (GRCm39) |
start gained |
probably benign |
|
R5410:Rai14
|
UTSW |
15 |
10,575,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Rai14
|
UTSW |
15 |
10,593,137 (GRCm39) |
missense |
probably benign |
0.03 |
R5644:Rai14
|
UTSW |
15 |
10,593,137 (GRCm39) |
missense |
probably benign |
0.03 |
R5681:Rai14
|
UTSW |
15 |
10,575,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R5934:Rai14
|
UTSW |
15 |
10,575,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R6333:Rai14
|
UTSW |
15 |
10,575,022 (GRCm39) |
nonsense |
probably null |
|
R6338:Rai14
|
UTSW |
15 |
10,575,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R6864:Rai14
|
UTSW |
15 |
10,633,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7015:Rai14
|
UTSW |
15 |
10,589,401 (GRCm39) |
nonsense |
probably null |
|
R7155:Rai14
|
UTSW |
15 |
10,595,089 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7480:Rai14
|
UTSW |
15 |
10,571,622 (GRCm39) |
missense |
probably benign |
0.02 |
R7574:Rai14
|
UTSW |
15 |
10,593,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Rai14
|
UTSW |
15 |
10,593,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Rai14
|
UTSW |
15 |
10,574,914 (GRCm39) |
missense |
probably benign |
|
R7597:Rai14
|
UTSW |
15 |
10,574,937 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7658:Rai14
|
UTSW |
15 |
10,593,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Rai14
|
UTSW |
15 |
10,593,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R7946:Rai14
|
UTSW |
15 |
10,574,287 (GRCm39) |
splice site |
probably null |
|
R8171:Rai14
|
UTSW |
15 |
10,633,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R8195:Rai14
|
UTSW |
15 |
10,575,302 (GRCm39) |
missense |
probably benign |
|
R8485:Rai14
|
UTSW |
15 |
10,575,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Rai14
|
UTSW |
15 |
10,589,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Rai14
|
UTSW |
15 |
10,592,204 (GRCm39) |
missense |
probably benign |
0.14 |
R9502:Rai14
|
UTSW |
15 |
10,587,947 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9603:Rai14
|
UTSW |
15 |
10,595,116 (GRCm39) |
nonsense |
probably null |
|
R9665:Rai14
|
UTSW |
15 |
10,574,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R9767:Rai14
|
UTSW |
15 |
10,610,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTCGGCTGCATCTTCCAG -3'
(R):5'- ACAGATGAAGCTGGGTCTCC -3'
Sequencing Primer
(F):5'- GGCTGCATCTTCCAGAGATTTC -3'
(R):5'- GATGAAGCTGGGTCTCCTCTCC -3'
|
Posted On |
2021-01-18 |