Incidental Mutation 'R6338:Rai14'
| ID |
514353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rai14
|
| Ensembl Gene |
ENSMUSG00000022246 |
| Gene Name |
retinoic acid induced 14 |
| Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
| MMRRC Submission |
044492-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.639)
|
| Stock # |
R6338 (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 10575062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 632
(D632G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
| AlphaFold |
Q9EP71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090339
AA Change: D661G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: D661G
| 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 |
possibly damaging
Transcript: ENSMUST00000169385
AA Change: D661G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: D661G
| 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: D632G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
T |
C |
7: 97,906,922 (GRCm39) |
Y128C |
probably damaging |
Het |
| Adam30 |
T |
G |
3: 98,068,857 (GRCm39) |
I102S |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,792,466 (GRCm39) |
D163E |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,255,042 (GRCm39) |
E1614K |
probably benign |
Het |
| Aldh16a1 |
A |
T |
7: 44,791,385 (GRCm39) |
W107R |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,687,490 (GRCm39) |
D238G |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,664,070 (GRCm39) |
S738G |
probably benign |
Het |
| Arid5b |
C |
A |
10: 67,934,391 (GRCm39) |
G504* |
probably null |
Het |
| Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cd209e |
T |
A |
8: 3,899,154 (GRCm39) |
D186V |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,248,930 (GRCm39) |
D882G |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,532,605 (GRCm39) |
V689A |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,100 (GRCm39) |
V174E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,982,492 (GRCm39) |
K2725T |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,896 (GRCm39) |
E55G |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,734,034 (GRCm39) |
R2027* |
probably null |
Het |
| Fam13a |
A |
G |
6: 58,930,484 (GRCm39) |
V476A |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,293 (GRCm39) |
D322E |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,274,489 (GRCm39) |
V466I |
probably benign |
Het |
| Gm20671 |
A |
T |
5: 32,977,991 (GRCm39) |
D1794E |
probably damaging |
Het |
| Gpatch2 |
G |
T |
1: 186,957,711 (GRCm39) |
R22L |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,465,880 (GRCm39) |
T450A |
probably benign |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Krit1 |
T |
G |
5: 3,886,857 (GRCm39) |
M702R |
probably benign |
Het |
| Krt34 |
T |
C |
11: 99,929,316 (GRCm39) |
N298S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,612,376 (GRCm39) |
N376K |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,959 (GRCm39) |
E573G |
probably damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,857 (GRCm39) |
F215I |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,834 (GRCm39) |
D111V |
probably damaging |
Het |
| Or1e31 |
A |
T |
11: 73,690,145 (GRCm39) |
L146Q |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,694 (GRCm39) |
S112G |
probably benign |
Het |
| Or4c119 |
T |
A |
2: 88,986,715 (GRCm39) |
K268I |
probably damaging |
Het |
| Or56b2 |
T |
A |
7: 104,337,378 (GRCm39) |
V52E |
possibly damaging |
Het |
| Phf20 |
A |
T |
2: 156,115,606 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 99,737,312 (GRCm39) |
V342A |
possibly damaging |
Het |
| Polr2a |
A |
T |
11: 69,630,505 (GRCm39) |
|
probably null |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,360 (GRCm39) |
E843G |
possibly damaging |
Het |
| Rnf149 |
A |
T |
1: 39,599,823 (GRCm39) |
C268S |
probably null |
Het |
| Slc6a13 |
T |
A |
6: 121,311,798 (GRCm39) |
F392I |
probably damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,338,492 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,232,581 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,527,966 (GRCm39) |
V1408I |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,241,229 (GRCm39) |
I183T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,205,475 (GRCm39) |
E3497G |
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,706,361 (GRCm39) |
R121* |
probably null |
Het |
| Tdpoz2 |
C |
T |
3: 93,559,643 (GRCm39) |
V110I |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,467,649 (GRCm39) |
T788A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,641,729 (GRCm39) |
I1255F |
probably damaging |
Het |
| Usp44 |
G |
T |
10: 93,682,375 (GRCm39) |
R275I |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,151,844 (GRCm39) |
N1015D |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
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 |
|
|
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'- TGCAAATGCTCTGTGATGGAC -3'
(R):5'- TTGAGAAATATCAACAGGCCCAAG -3'
Sequencing Primer
(F):5'- GTGCATCCACCAGCTGTTTGAG -3'
(R):5'- TCAACAGGCCCAAGAAGAGATCATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation