Incidental Mutation 'R7015:Rai14'
| ID |
545273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rai14
|
| Ensembl Gene |
ENSMUSG00000022246 |
| Gene Name |
retinoic acid induced 14 |
| Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
| MMRRC Submission |
045116-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R7015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 10589401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 266
(R266*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
| AlphaFold |
Q9EP71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090339
AA Change: R266*
|
| SMART Domains |
Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: R266*
| 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 null
Transcript: ENSMUST00000169385
AA Change: R266*
|
| SMART Domains |
Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: R266*
| 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
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
93% (55/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,902,738 (GRCm39) |
R3G |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,617 (GRCm39) |
I150V |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,445,959 (GRCm39) |
L1085P |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,335,697 (GRCm39) |
N24D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,321,917 (GRCm39) |
T70A |
probably benign |
Het |
| Aplf |
G |
A |
6: 87,618,884 (GRCm39) |
A399V |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,656,978 (GRCm39) |
S1663G |
probably benign |
Het |
| Bcat1 |
G |
C |
6: 144,985,309 (GRCm39) |
P43R |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,318,887 (GRCm39) |
R9G |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,278 (GRCm39) |
V1117A |
probably damaging |
Het |
| Cd300ld4 |
A |
T |
11: 114,913,533 (GRCm39) |
V174E |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,151 (GRCm39) |
D146G |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,675 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
C |
T |
14: 75,950,716 (GRCm39) |
V719I |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,484,671 (GRCm39) |
P532L |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,910,954 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,632,521 (GRCm39) |
Q4547* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,873,853 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
G |
A |
5: 114,394,916 (GRCm39) |
T337M |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,047,566 (GRCm39) |
I336N |
probably damaging |
Het |
| Gm21905 |
A |
T |
5: 68,103,705 (GRCm39) |
|
probably null |
Het |
| Grik2 |
C |
A |
10: 49,411,532 (GRCm39) |
R202L |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,126,351 (GRCm39) |
D184G |
probably benign |
Het |
| Il11ra1 |
A |
T |
4: 41,765,421 (GRCm39) |
Q172L |
probably benign |
Het |
| Me2 |
G |
T |
18: 73,914,218 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,609,678 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mmp24 |
A |
G |
2: 155,634,544 (GRCm39) |
Q88R |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,111,069 (GRCm39) |
V819E |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,937,706 (GRCm39) |
K247R |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,670 (GRCm39) |
R1254H |
|
Het |
| Ncoa5 |
A |
G |
2: 164,844,001 (GRCm39) |
L134P |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,751 (GRCm39) |
F12I |
probably benign |
Het |
| Or51e2 |
C |
A |
7: 102,391,651 (GRCm39) |
L186F |
probably damaging |
Het |
| Or52a24 |
T |
C |
7: 103,382,024 (GRCm39) |
V297A |
probably null |
Het |
| Pdcd11 |
A |
G |
19: 47,086,665 (GRCm39) |
I224V |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,555,626 (GRCm39) |
|
probably null |
Het |
| Rab34 |
G |
T |
11: 78,080,978 (GRCm39) |
V63F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,592 (GRCm39) |
I71T |
probably benign |
Het |
| Rsph9 |
A |
G |
17: 46,440,382 (GRCm39) |
V238A |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sel1l3 |
A |
T |
5: 53,329,916 (GRCm39) |
C480S |
probably benign |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,562 (GRCm39) |
A747T |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,679,052 (GRCm39) |
N181S |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,618,325 (GRCm39) |
K784* |
probably null |
Het |
| Sos2 |
T |
A |
12: 69,632,009 (GRCm39) |
Q1297L |
probably benign |
Het |
| Srd5a2 |
T |
A |
17: 74,334,114 (GRCm39) |
T102S |
probably benign |
Het |
| Ss18l2 |
A |
T |
9: 121,541,674 (GRCm39) |
I64F |
probably damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,128 (GRCm39) |
F70S |
possibly damaging |
Het |
| Tjap1 |
G |
A |
17: 46,574,700 (GRCm39) |
A5V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,269,929 (GRCm39) |
M488K |
possibly damaging |
Het |
| Tnks |
T |
G |
8: 35,305,701 (GRCm39) |
I42L |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,016,563 (GRCm39) |
Q640L |
possibly damaging |
Het |
| Triobp |
C |
A |
15: 78,878,260 (GRCm39) |
Q1682K |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,859,942 (GRCm39) |
E311K |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,655 (GRCm39) |
Y171H |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,263,205 (GRCm39) |
D68Y |
probably damaging |
Het |
| Zranb2 |
A |
T |
3: 157,242,370 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGATGTGTTTAGGGTTCACTAATAC -3'
(R):5'- CCCTTAATCCGGTGGGTTTGTC -3'
Sequencing Primer
(F):5'- GGTTCACTAATACAACAACCCTTTGG -3'
(R):5'- TTGCTGAAAGCTAGCGCATGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation