Incidental Mutation 'PIT4618001:Rai14'
| ID |
555707 |
| Institutional Source |
Beutler Lab
|
| 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: 0.639)
|
| Stock # |
PIT4618001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10575242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 601
(Y601C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
| AlphaFold |
Q9EP71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090339
AA Change: Y601C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: Y601C
| 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 damaging
Transcript: ENSMUST00000169385
AA Change: Y601C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: Y601C
| 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 damaging
Transcript: ENSMUST00000227506
AA Change: Y572C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
| Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
| Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
| Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
| Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
| I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
| Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
| Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
| Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
| Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
| Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
| Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
| Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
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 |
|
IGL02945:Rai14
|
APN |
15 |
10,574,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCGGCTGCATCTTCCAG -3'
(R):5'- ATGAAGCTGGGTCTCCTCTC -3'
Sequencing Primer
(F):5'- GGCTGCATCTTCCAGAGATTTC -3'
(R):5'- GATGGCTACTCGCATCTCCG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation