Incidental Mutation 'R7546:Gm14226'
| ID |
584203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14226
|
| Ensembl Gene |
ENSMUSG00000084897 |
| Gene Name |
predicted gene 14226 |
| Synonyms |
|
| MMRRC Submission |
045617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R7546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154860186-154869024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 154867131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 363
(S363P)
|
| 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: S363P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: S363P
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,348,330 (GRCm39) |
S36P |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Ampd1 |
A |
G |
3: 103,003,028 (GRCm39) |
T582A |
probably benign |
Het |
| Ank1 |
A |
C |
8: 23,555,011 (GRCm39) |
N57T |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,914,261 (GRCm39) |
|
probably null |
Het |
| Bace2 |
G |
A |
16: 97,200,882 (GRCm39) |
A117T |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,740,203 (GRCm39) |
N19S |
probably benign |
Het |
| Bid |
C |
A |
6: 120,877,112 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,626,607 (GRCm39) |
M227K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,135,697 (GRCm39) |
C483Y |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,780,326 (GRCm39) |
T621A |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,094,112 (GRCm39) |
S383L |
probably damaging |
Het |
| F2r |
C |
T |
13: 95,754,858 (GRCm39) |
V9I |
probably benign |
Het |
| Gstm5 |
T |
C |
3: 107,804,610 (GRCm39) |
Y65H |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,040 (GRCm39) |
S92P |
probably benign |
Het |
| H60c |
A |
G |
10: 3,209,907 (GRCm39) |
W127R |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,606,894 (GRCm39) |
G448* |
probably null |
Het |
| Klrh1 |
T |
C |
6: 129,749,343 (GRCm39) |
H84R |
probably benign |
Het |
| Lhx6 |
C |
T |
2: 35,993,357 (GRCm39) |
|
probably null |
Het |
| Manba |
T |
A |
3: 135,276,007 (GRCm39) |
V816D |
probably benign |
Het |
| Marchf10 |
G |
A |
11: 105,280,906 (GRCm39) |
P460S |
not run |
Het |
| Mmp17 |
T |
A |
5: 129,673,653 (GRCm39) |
V244E |
probably damaging |
Het |
| Mtrr |
C |
T |
13: 68,730,268 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,515,402 (GRCm39) |
I170T |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,363 (GRCm39) |
N225S |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,538 (GRCm39) |
L283F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,996 (GRCm39) |
S177P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,074,352 (GRCm39) |
S302N |
possibly damaging |
Het |
| Plekhj1 |
G |
A |
10: 80,633,748 (GRCm39) |
A53V |
possibly damaging |
Het |
| Pramel46 |
T |
A |
5: 95,418,171 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pramel48 |
C |
T |
5: 95,630,539 (GRCm39) |
R139C |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,399,200 (GRCm39) |
V2157A |
probably damaging |
Het |
| Rps8 |
G |
A |
4: 117,011,104 (GRCm39) |
R200W |
probably damaging |
Het |
| Sesn2 |
A |
G |
4: 132,227,154 (GRCm39) |
F93L |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,282,954 (GRCm39) |
L759M |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,311 (GRCm39) |
S768P |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,622 (GRCm39) |
N471S |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,621 (GRCm39) |
L758P |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,540,696 (GRCm39) |
T183A |
probably benign |
Het |
| Ttr |
C |
A |
18: 20,803,102 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp90 |
C |
A |
8: 107,151,323 (GRCm39) |
H345Q |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,757,961 (GRCm39) |
V1531A |
probably 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 |
|
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 |
|
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'- TTAGGCCTACCCGGGACTAC -3'
(R):5'- GCCTAGGATCACTGCTAAGGTT -3'
Sequencing Primer
(F):5'- AGGCCTACCCGGGACTACTATATTC -3'
(R):5'- CTAGGATCACTGCTAAGGTTACTGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation