Incidental Mutation 'R4485:Gm14226'
| ID |
331567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14226
|
| Ensembl Gene |
ENSMUSG00000084897 |
| Gene Name |
predicted gene 14226 |
| Synonyms |
|
| MMRRC Submission |
041741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R4485 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154860186-154869024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 154867191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 383
(V383I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029123]
[ENSMUST00000109697]
[ENSMUST00000130870]
[ENSMUST00000137333]
[ENSMUST00000148402]
|
| AlphaFold |
Q3TZL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029123
|
| SMART Domains |
Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
6 |
127 |
3.98e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109697
|
| SMART Domains |
Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
6 |
127 |
3.98e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130870
AA Change: V383I
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: V383I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLV_coat
|
14 |
627 |
1.4e-139 |
PFAM |
|
low complexity region
|
649 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137333
|
| SMART Domains |
Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
6 |
70 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148402
|
| SMART Domains |
Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
6 |
75 |
2.32e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
| Apol7b |
C |
A |
15: 77,307,866 (GRCm39) |
V210L |
probably benign |
Het |
| Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,426,306 (GRCm39) |
F214L |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
| Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
| Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
| Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
| Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Pus7l |
G |
T |
15: 94,421,371 (GRCm39) |
H646Q |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
| Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,304 (GRCm39) |
M137K |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
| Tmem145 |
A |
G |
7: 25,006,587 (GRCm39) |
E65G |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
| Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,542 (GRCm39) |
W206R |
possibly damaging |
Het |
|
| Other mutations in Gm14226 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Gm14226
|
APN |
2 |
154,867,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Gm14226
|
APN |
2 |
154,866,841 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0279:Gm14226
|
UTSW |
2 |
154,867,372 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1393:Gm14226
|
UTSW |
2 |
154,866,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Gm14226
|
UTSW |
2 |
154,866,851 (GRCm39) |
intron |
probably benign |
|
|
R1758:Gm14226
|
UTSW |
2 |
154,867,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Gm14226
|
UTSW |
2 |
154,867,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Gm14226
|
UTSW |
2 |
154,866,930 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1951:Gm14226
|
UTSW |
2 |
154,866,255 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4947:Gm14226
|
UTSW |
2 |
154,866,879 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5061:Gm14226
|
UTSW |
2 |
154,867,106 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5673:Gm14226
|
UTSW |
2 |
154,866,842 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5863:Gm14226
|
UTSW |
2 |
154,866,211 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6525:Gm14226
|
UTSW |
2 |
154,867,003 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6996:Gm14226
|
UTSW |
2 |
154,866,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7546:Gm14226
|
UTSW |
2 |
154,867,131 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7593:Gm14226
|
UTSW |
2 |
154,866,114 (GRCm39) |
missense |
unknown |
|
|
R7775:Gm14226
|
UTSW |
2 |
154,866,630 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7778:Gm14226
|
UTSW |
2 |
154,866,630 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8254:Gm14226
|
UTSW |
2 |
154,866,646 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8558:Gm14226
|
UTSW |
2 |
154,866,909 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8712:Gm14226
|
UTSW |
2 |
154,866,094 (GRCm39) |
missense |
unknown |
|
|
R8815:Gm14226
|
UTSW |
2 |
154,866,538 (GRCm39) |
nonsense |
probably null |
|
|
R9149:Gm14226
|
UTSW |
2 |
154,866,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTAGGGTCGGCTGCTATAGG -3'
(R):5'- GGAGGTCTTCTGCATGGTGTAC -3'
Sequencing Primer
(F):5'- GCCGAGTATTCCACAGACTGTTAC -3'
(R):5'- CTGCATGGTGTACTGTCAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation