Incidental Mutation 'R3161:Rai14'
| ID |
258184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rai14
|
| Ensembl Gene |
ENSMUSG00000022246 |
| Gene Name |
retinoic acid induced 14 |
| Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
| MMRRC Submission |
040612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R3161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10633250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 47
(T47A)
|
| 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: T47A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: T47A
| 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: T47A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: T47A
| 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 |
noncoding transcript
Transcript: ENSMUST00000226530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227464
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227506
AA Change: T47A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.0974 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
C |
5: 64,053,833 (GRCm39) |
|
probably benign |
Het |
| 1700066M21Rik |
T |
A |
1: 57,422,234 (GRCm39) |
N203K |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Adgrl2 |
G |
A |
3: 148,523,187 (GRCm39) |
L1354F |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,343,597 (GRCm39) |
V427L |
possibly damaging |
Het |
| Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,965,302 (GRCm39) |
D1182E |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
| Chct1 |
A |
G |
11: 85,064,110 (GRCm39) |
S84G |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,075 (GRCm39) |
D207G |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Crabp2 |
A |
T |
3: 87,859,484 (GRCm39) |
K45* |
probably null |
Het |
| Daam1 |
C |
A |
12: 71,993,872 (GRCm39) |
T425K |
unknown |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dlg4 |
G |
C |
11: 69,908,051 (GRCm39) |
R4T |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,039,046 (GRCm39) |
I743T |
probably damaging |
Het |
| Fen1 |
A |
G |
19: 10,177,655 (GRCm39) |
L263P |
probably damaging |
Het |
| G6pc2 |
A |
G |
2: 69,050,456 (GRCm39) |
N27S |
probably damaging |
Het |
| Garnl3 |
A |
T |
2: 32,924,723 (GRCm39) |
N246K |
probably damaging |
Het |
| Gm7337 |
A |
C |
5: 87,999,416 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
A |
G |
19: 4,192,713 (GRCm39) |
T85A |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Ighv1-81 |
C |
G |
12: 115,883,949 (GRCm39) |
E101Q |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,739,598 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,860 (GRCm39) |
H55R |
probably benign |
Het |
| Or6d13 |
C |
T |
6: 116,517,807 (GRCm39) |
A131V |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
| Phyh |
T |
A |
2: 4,942,482 (GRCm39) |
|
probably benign |
Het |
| Pkp4 |
G |
T |
2: 59,138,449 (GRCm39) |
R233M |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,177,402 (GRCm39) |
Q578L |
probably benign |
Het |
| Ppil3 |
A |
T |
1: 58,473,573 (GRCm39) |
N92K |
probably benign |
Het |
| Prokr1 |
C |
T |
6: 87,565,413 (GRCm39) |
R144H |
probably damaging |
Het |
| Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Sult2a4 |
T |
C |
7: 13,723,396 (GRCm39) |
T40A |
probably benign |
Het |
| Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,663,581 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,575,998 (GRCm39) |
M532K |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Wipf1 |
C |
T |
2: 73,265,293 (GRCm39) |
E437K |
probably damaging |
Het |
| Wls |
G |
T |
3: 159,603,073 (GRCm39) |
C162F |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,736 (GRCm39) |
S200P |
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 |
|
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 |
|
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'- AGCATTGGTCAAACTCCCCTTG -3'
(R):5'- GTTGTTCCCACGGTGAAGTG -3'
Sequencing Primer
(F):5'- TCCCCTTGATGAATAAGTCAGC -3'
(R):5'- AAGGCGGTTTTGAAAGCTGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation