Incidental Mutation 'R9603:Rai14'
ID |
723804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rai14
|
Ensembl Gene |
ENSMUSG00000022246 |
Gene Name |
retinoic acid induced 14 |
Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
R9603 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 10595116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 136
(Q136*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
AlphaFold |
Q9EP71 |
Predicted Effect |
probably null
Transcript: ENSMUST00000090339
AA Change: Q136*
|
SMART Domains |
Protein: ENSMUSP00000087815 Gene: ENSMUSG00000022246 AA Change: Q136*
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: Q136*
|
SMART Domains |
Protein: ENSMUSP00000126325 Gene: ENSMUSG00000022246 AA Change: Q136*
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: ENSMUST00000227506
AA Change: Q136*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
T |
11: 54,225,911 (GRCm39) |
N317I |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,118,147 (GRCm39) |
S590C |
possibly damaging |
Het |
Btrc |
G |
A |
19: 45,459,526 (GRCm39) |
E103K |
probably benign |
Het |
Cars1 |
A |
G |
7: 143,112,929 (GRCm39) |
M766T |
possibly damaging |
Het |
Cavin4 |
T |
C |
4: 48,671,999 (GRCm39) |
V148A |
probably benign |
Het |
Cdcp3 |
T |
C |
7: 130,830,643 (GRCm39) |
V359A |
probably damaging |
Het |
Cdkn2d |
T |
C |
9: 21,202,139 (GRCm39) |
D36G |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,292,510 (GRCm39) |
D3224E |
probably damaging |
Het |
Ebf1 |
A |
G |
11: 44,509,006 (GRCm39) |
M1V |
probably null |
Het |
Eif1ad7 |
T |
G |
12: 88,238,727 (GRCm39) |
N11T |
unknown |
Het |
Fcgbp |
A |
G |
7: 27,802,563 (GRCm39) |
D1497G |
probably damaging |
Het |
Foxs1 |
A |
C |
2: 152,774,281 (GRCm39) |
C257W |
probably damaging |
Het |
Fstl5 |
C |
T |
3: 76,496,260 (GRCm39) |
P341L |
probably damaging |
Het |
Fzd10 |
G |
A |
5: 128,678,771 (GRCm39) |
G164S |
probably benign |
Het |
Hrh3 |
C |
A |
2: 179,742,444 (GRCm39) |
E395* |
probably null |
Het |
Hsf4 |
G |
A |
8: 105,999,435 (GRCm39) |
V318M |
probably damaging |
Het |
Il21 |
T |
C |
3: 37,281,949 (GRCm39) |
E65G |
possibly damaging |
Het |
Kank1 |
A |
G |
19: 25,408,289 (GRCm39) |
D1256G |
possibly damaging |
Het |
Klhl22 |
A |
G |
16: 17,594,915 (GRCm39) |
N348S |
possibly damaging |
Het |
Krr1 |
T |
C |
10: 111,812,672 (GRCm39) |
I94T |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,550,410 (GRCm39) |
D724G |
probably damaging |
Het |
Mn1 |
C |
A |
5: 111,566,393 (GRCm39) |
P121Q |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,463,015 (GRCm39) |
L10* |
probably null |
Het |
Mtus1 |
A |
T |
8: 41,536,795 (GRCm39) |
V307E |
probably benign |
Het |
Muc20 |
A |
G |
16: 32,615,155 (GRCm39) |
L74P |
probably damaging |
Het |
Nnat |
A |
G |
2: 157,403,701 (GRCm39) |
*113W |
probably null |
Het |
Or13a25 |
G |
T |
7: 140,247,794 (GRCm39) |
C191F |
probably damaging |
Het |
Or2f1b |
C |
T |
6: 42,739,672 (GRCm39) |
Q229* |
probably null |
Het |
Or4f14 |
A |
G |
2: 111,743,128 (GRCm39) |
V49A |
possibly damaging |
Het |
Or6b6 |
A |
T |
7: 106,571,103 (GRCm39) |
Y149* |
probably null |
Het |
Pkm |
T |
A |
9: 59,577,831 (GRCm39) |
V216E |
probably damaging |
Het |
Pla2g12a |
G |
A |
3: 129,674,900 (GRCm39) |
V19I |
unknown |
Het |
Pramel27 |
T |
C |
4: 143,578,267 (GRCm39) |
S176P |
|
Het |
Rnf150 |
T |
A |
8: 83,717,208 (GRCm39) |
N238K |
possibly damaging |
Het |
Rrp1 |
A |
G |
10: 78,240,757 (GRCm39) |
|
probably null |
Het |
Scaf8 |
T |
A |
17: 3,246,070 (GRCm39) |
L720M |
possibly damaging |
Het |
Slamf1 |
G |
T |
1: 171,625,771 (GRCm39) |
V316L |
probably damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc25a20 |
T |
C |
9: 108,549,675 (GRCm39) |
F86L |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,217,714 (GRCm39) |
S131A |
probably benign |
Het |
Slitrk3 |
A |
G |
3: 72,958,649 (GRCm39) |
I41T |
probably benign |
Het |
Sntg1 |
A |
T |
1: 8,748,198 (GRCm39) |
L94Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,811 (GRCm39) |
C819R |
probably damaging |
Het |
St6galnac3 |
T |
A |
3: 153,117,177 (GRCm39) |
D182V |
probably benign |
Het |
Tubgcp2 |
T |
A |
7: 139,584,789 (GRCm39) |
T549S |
probably benign |
Het |
Vim |
A |
T |
2: 13,579,148 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
C |
A |
17: 55,899,837 (GRCm39) |
R689I |
probably damaging |
Het |
Zbtb41 |
A |
T |
1: 139,375,255 (GRCm39) |
E905V |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly 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 |
|
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 |
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'- GTGCAACACACTAATGGTTTAGG -3'
(R):5'- GCTGTACCTTTGGCTAAAGC -3'
Sequencing Primer
(F):5'- GCAACACACTAATGGTTTAGGAATTC -3'
(R):5'- TGGCTAAAGCTATAATTAAGCAGTG -3'
|
Posted On |
2022-09-12 |