Incidental Mutation 'R1393:Gm14226'
| ID |
162690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14226
|
| Ensembl Gene |
ENSMUSG00000084897 |
| Gene Name |
predicted gene 14226 |
| Synonyms |
|
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154860186-154869024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154866111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 23
(S23C)
|
| 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 damaging
Transcript: ENSMUST00000130870
AA Change: S23C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: S23C
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
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 |
|
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 |
|
R4485:Gm14226
|
UTSW |
2 |
154,867,191 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
| Posted On |
2014-03-17 |
Incidental Mutation