Incidental Mutation 'IGL02945:Rai14'
ID |
364683 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rai14
|
Ensembl Gene |
ENSMUSG00000022246 |
Gene Name |
retinoic acid induced 14 |
Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
IGL02945
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10574795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 721
(I721T)
|
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: I750T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087815 Gene: ENSMUSG00000022246 AA Change: I750T
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: I750T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126325 Gene: ENSMUSG00000022246 AA Change: I750T
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: I721T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411G06Rik |
A |
T |
10: 51,633,095 (GRCm39) |
|
noncoding transcript |
Het |
Adgrf4 |
T |
C |
17: 42,978,257 (GRCm39) |
Q362R |
probably benign |
Het |
Akap6 |
A |
G |
12: 52,927,620 (GRCm39) |
N177D |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,597,915 (GRCm39) |
I914V |
probably damaging |
Het |
Arhgap11a |
A |
T |
2: 113,667,818 (GRCm39) |
S394R |
possibly damaging |
Het |
Cacna1h |
C |
T |
17: 25,607,033 (GRCm39) |
V962I |
probably damaging |
Het |
Calr3 |
A |
T |
8: 73,192,401 (GRCm39) |
L91Q |
probably damaging |
Het |
Ccnf |
T |
C |
17: 24,443,890 (GRCm39) |
E626G |
probably damaging |
Het |
Clec10a |
A |
T |
11: 70,061,368 (GRCm39) |
I295F |
possibly damaging |
Het |
Cop1 |
A |
T |
1: 159,134,259 (GRCm39) |
N167I |
probably benign |
Het |
Csmd1 |
G |
T |
8: 16,321,584 (GRCm39) |
Q505K |
possibly damaging |
Het |
Ctrc |
A |
C |
4: 141,573,563 (GRCm39) |
V6G |
possibly damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,875,091 (GRCm39) |
R21G |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
Egfr |
T |
A |
11: 16,702,514 (GRCm39) |
L11Q |
probably damaging |
Het |
Erich2 |
A |
G |
2: 70,364,738 (GRCm39) |
T371A |
probably damaging |
Het |
Fbxl21 |
T |
A |
13: 56,674,983 (GRCm39) |
F111L |
probably damaging |
Het |
Grik4 |
G |
T |
9: 42,509,175 (GRCm39) |
T416N |
possibly damaging |
Het |
Grin3a |
A |
G |
4: 49,792,971 (GRCm39) |
V254A |
possibly damaging |
Het |
Hat1 |
G |
A |
2: 71,251,037 (GRCm39) |
R195K |
probably benign |
Het |
Hmgb4 |
A |
C |
4: 128,154,387 (GRCm39) |
Y60* |
probably null |
Het |
Ighv12-3 |
A |
G |
12: 114,330,337 (GRCm39) |
W53R |
probably damaging |
Het |
Irs2 |
C |
A |
8: 11,057,781 (GRCm39) |
C217F |
probably damaging |
Het |
Kcnb1 |
T |
C |
2: 167,030,308 (GRCm39) |
E79G |
probably benign |
Het |
Lingo3 |
A |
G |
10: 80,670,532 (GRCm39) |
I466T |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,935,783 (GRCm39) |
S3665P |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,646,205 (GRCm39) |
L1926Q |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,399,088 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,245,569 (GRCm39) |
F198L |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,557,697 (GRCm39) |
T63A |
probably damaging |
Het |
Nle1 |
A |
T |
11: 82,794,910 (GRCm39) |
|
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,636,288 (GRCm39) |
D463V |
probably damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,703 (GRCm39) |
I77N |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,812 (GRCm39) |
I215V |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,048 (GRCm39) |
I126T |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,818,731 (GRCm39) |
I127V |
probably benign |
Het |
Rps6ka1 |
A |
G |
4: 133,594,510 (GRCm39) |
Y57H |
probably damaging |
Het |
Scara3 |
T |
A |
14: 66,168,660 (GRCm39) |
D319V |
probably damaging |
Het |
Selp |
G |
A |
1: 163,961,498 (GRCm39) |
G404S |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,472,836 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,705,080 (GRCm39) |
|
probably null |
Het |
Spen |
G |
T |
4: 141,221,624 (GRCm39) |
L325I |
unknown |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,315,970 (GRCm39) |
S326R |
possibly damaging |
Het |
Tmem255b |
T |
C |
8: 13,505,141 (GRCm39) |
S149P |
probably damaging |
Het |
Tnni3k |
A |
T |
3: 154,743,075 (GRCm39) |
S95T |
possibly damaging |
Het |
Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
Ttn |
A |
T |
2: 76,582,316 (GRCm39) |
I22859N |
probably damaging |
Het |
Zfp319 |
A |
T |
8: 96,050,446 (GRCm39) |
|
probably benign |
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 |
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 |
|
R8471:Rai14
|
UTSW |
15 |
10,575,245 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2015-12-18 |