Incidental Mutation 'R5410:Rai14'
ID |
426523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rai14
|
Ensembl Gene |
ENSMUSG00000022246 |
Gene Name |
retinoic acid induced 14 |
Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
MMRRC Submission |
042979-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.639)
|
Stock # |
R5410 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10575024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 645
(Y645H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
AlphaFold |
Q9EP71 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090339
AA Change: Y674H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087815 Gene: ENSMUSG00000022246 AA Change: Y674H
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: Y674H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126325 Gene: ENSMUSG00000022246 AA Change: Y674H
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: Y645H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam24 |
A |
G |
8: 41,134,103 (GRCm39) |
M524V |
probably benign |
Het |
Adamts20 |
T |
A |
15: 94,179,838 (GRCm39) |
N1788I |
possibly damaging |
Het |
Arfgef3 |
T |
G |
10: 18,486,985 (GRCm39) |
I1350L |
probably damaging |
Het |
Arhgap17 |
A |
G |
7: 122,896,716 (GRCm39) |
|
probably null |
Het |
Ascl5 |
A |
T |
1: 135,978,926 (GRCm39) |
I129F |
probably damaging |
Het |
AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
Bpifb9a |
A |
T |
2: 154,112,155 (GRCm39) |
N564Y |
probably benign |
Het |
Cdon |
G |
T |
9: 35,381,331 (GRCm39) |
D574Y |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Ces1e |
T |
A |
8: 93,937,070 (GRCm39) |
I334F |
possibly damaging |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Cntn3 |
T |
A |
6: 102,255,314 (GRCm39) |
T195S |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,442,612 (GRCm39) |
H3221Q |
probably benign |
Het |
Cyp2c68 |
T |
C |
19: 39,687,728 (GRCm39) |
D423G |
possibly damaging |
Het |
Dennd3 |
C |
T |
15: 73,419,297 (GRCm39) |
T696M |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,055 (GRCm39) |
M1704T |
unknown |
Het |
Exoc2 |
A |
G |
13: 31,048,839 (GRCm39) |
F738S |
probably damaging |
Het |
Fis1 |
A |
G |
5: 136,994,420 (GRCm39) |
E36G |
probably damaging |
Het |
Galnt1 |
A |
G |
18: 24,400,604 (GRCm39) |
I237V |
probably benign |
Het |
Gspt1 |
A |
T |
16: 11,048,374 (GRCm39) |
I416N |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hykk |
G |
A |
9: 54,853,350 (GRCm39) |
C224Y |
probably damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,829 (GRCm39) |
T111A |
probably benign |
Het |
Il17rd |
T |
C |
14: 26,817,868 (GRCm39) |
Y186H |
probably damaging |
Het |
Klhl29 |
G |
T |
12: 5,141,366 (GRCm39) |
N539K |
probably benign |
Het |
Lmbr1l |
T |
C |
15: 98,807,143 (GRCm39) |
T213A |
probably damaging |
Het |
Madd |
C |
T |
2: 90,984,859 (GRCm39) |
R1318Q |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,051,870 (GRCm39) |
A182S |
probably benign |
Het |
Or13c25 |
C |
A |
4: 52,910,991 (GRCm39) |
A268S |
probably benign |
Het |
Or1e1 |
C |
T |
11: 73,244,632 (GRCm39) |
P18S |
probably benign |
Het |
Or4f56 |
C |
T |
2: 111,703,637 (GRCm39) |
A188T |
probably damaging |
Het |
Or52z1 |
A |
T |
7: 103,436,581 (GRCm39) |
V301E |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
Pdia5 |
A |
G |
16: 35,273,906 (GRCm39) |
V130A |
probably damaging |
Het |
Phldb2 |
T |
A |
16: 45,645,975 (GRCm39) |
H202L |
possibly damaging |
Het |
Ppig |
G |
A |
2: 69,566,241 (GRCm39) |
G136E |
probably null |
Het |
Prr14l |
C |
A |
5: 32,985,121 (GRCm39) |
R1458L |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,205,019 (GRCm39) |
Y714C |
probably damaging |
Het |
Ptprr |
T |
C |
10: 116,024,235 (GRCm39) |
V182A |
possibly damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,804,042 (GRCm39) |
I115T |
probably benign |
Het |
Rc3h1 |
G |
T |
1: 160,792,533 (GRCm39) |
R990L |
possibly damaging |
Het |
Rdh5 |
T |
A |
10: 128,754,160 (GRCm39) |
Q21L |
probably benign |
Het |
Rfx8 |
A |
G |
1: 39,749,316 (GRCm39) |
|
probably null |
Het |
Scap |
A |
G |
9: 110,203,250 (GRCm39) |
|
probably null |
Het |
Shank1 |
T |
A |
7: 44,001,246 (GRCm39) |
S988R |
unknown |
Het |
Slc16a14 |
T |
A |
1: 84,885,145 (GRCm39) |
I465F |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,117,232 (GRCm39) |
|
probably null |
Het |
Tab2 |
T |
C |
10: 7,795,585 (GRCm39) |
H225R |
possibly damaging |
Het |
Tbx19 |
T |
A |
1: 164,987,941 (GRCm39) |
N64I |
probably damaging |
Het |
Tmprss11f |
A |
T |
5: 86,677,965 (GRCm39) |
I268K |
probably damaging |
Het |
Tox2 |
A |
G |
2: 163,162,293 (GRCm39) |
M388V |
probably benign |
Het |
Trbv17 |
T |
C |
6: 41,140,472 (GRCm39) |
L109P |
probably damaging |
Het |
Trim72 |
A |
G |
7: 127,609,095 (GRCm39) |
H299R |
probably damaging |
Het |
Ulbp3 |
G |
A |
10: 3,076,473 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r63 |
C |
T |
7: 5,806,189 (GRCm39) |
V148I |
possibly damaging |
Het |
Zfp938 |
A |
C |
10: 82,061,092 (GRCm39) |
H509Q |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,657,739 (GRCm39) |
V724A |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,829,395 (GRCm39) |
F569L |
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 |
|
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'- TTGTCCGCAGCGTGGTTATC -3'
(R):5'- ATCATGAAACTGAAGGACACGC -3'
Sequencing Primer
(F):5'- TGCAAATGCTCTGTGATGGACAC -3'
(R):5'- GGACACGCTAAAAAGTCAGATGCC -3'
|
Posted On |
2016-09-01 |