Incidental Mutation 'R6864:Rai14'
| ID |
535832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rai14
|
| Ensembl Gene |
ENSMUSG00000022246 |
| Gene Name |
retinoic acid induced 14 |
| Synonyms |
1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg |
| MMRRC Submission |
044964-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.639)
|
| Stock # |
R6864 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10569055-10714710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10633254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 45
(S45R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090339]
[ENSMUST00000169385]
[ENSMUST00000227506]
|
| AlphaFold |
Q9EP71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090339
AA Change: S45R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: S45R
| 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: S45R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: S45R
| 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: ENSMUST00000227506
AA Change: S45R
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,293,545 (GRCm39) |
S33T |
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,877,011 (GRCm39) |
T541A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,917,557 (GRCm39) |
R334W |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,741,612 (GRCm39) |
V940D |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,471,011 (GRCm39) |
Y232N |
probably damaging |
Het |
| Bmp7 |
A |
G |
2: 172,781,855 (GRCm39) |
V3A |
probably benign |
Het |
| Calr |
A |
T |
8: 85,571,557 (GRCm39) |
H145Q |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,562,792 (GRCm39) |
T976S |
probably benign |
Het |
| Ccnk |
G |
A |
12: 108,168,473 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 85,015,029 (GRCm39) |
S1107P |
probably damaging |
Het |
| Cradd |
T |
C |
10: 95,011,789 (GRCm39) |
D117G |
probably damaging |
Het |
| Dcaf7 |
C |
T |
11: 105,937,647 (GRCm39) |
T90I |
probably damaging |
Het |
| Defb30 |
T |
A |
14: 63,273,552 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,795,745 (GRCm39) |
I854N |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,791,477 (GRCm39) |
T341A |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,206 (GRCm39) |
V309A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,905,640 (GRCm38) |
P1130L |
possibly damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,085 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,757,011 (GRCm39) |
K242* |
probably null |
Het |
| Kel |
A |
G |
6: 41,680,694 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,904,546 (GRCm39) |
K177N |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,354,795 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,343,313 (GRCm39) |
D1735G |
probably damaging |
Het |
| Ms4a1 |
C |
A |
19: 11,230,542 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mylk |
C |
A |
16: 34,694,520 (GRCm39) |
P193Q |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or2y16 |
G |
T |
11: 49,334,767 (GRCm39) |
A30S |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,580 (GRCm39) |
T74S |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,777 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or4f52 |
C |
T |
2: 111,061,542 (GRCm39) |
V199I |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,663,667 (GRCm39) |
S968N |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,686,783 (GRCm39) |
V555G |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,715,761 (GRCm39) |
Y103C |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,451,133 (GRCm39) |
Y204C |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,391 (GRCm39) |
E546G |
probably damaging |
Het |
| Prss12 |
C |
A |
3: 123,241,033 (GRCm39) |
H76N |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,374,750 (GRCm39) |
D837V |
probably benign |
Het |
| Slc22a6 |
G |
T |
19: 8,595,805 (GRCm39) |
C49F |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,775,874 (GRCm39) |
I328N |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,556,310 (GRCm39) |
I148V |
possibly damaging |
Het |
| Stk32b |
A |
T |
5: 37,606,149 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,115 (GRCm39) |
F525I |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,964,991 (GRCm39) |
I183T |
probably damaging |
Het |
| Tmem175 |
A |
C |
5: 108,793,845 (GRCm39) |
H325P |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,196 (GRCm39) |
V389A |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,809,011 (GRCm39) |
|
probably null |
Het |
| Trim28 |
T |
A |
7: 12,763,385 (GRCm39) |
F509I |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,713 (GRCm39) |
Q191L |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,756,117 (GRCm39) |
D63V |
possibly damaging |
Het |
| Zfp536 |
A |
G |
7: 37,267,940 (GRCm39) |
L492P |
probably damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,533 (GRCm39) |
N1069K |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,593 (GRCm39) |
H226Q |
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 |
|
|
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 |
|
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'- AGCATTGGTCAAACTCCCC -3'
(R):5'- GTTGTTCCCACGGTGAAGTG -3'
Sequencing Primer
(F):5'- TCCCCTTGATGAATAAGTCAGC -3'
(R):5'- AAGGCGGTTTTGAAAGCTGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation