Incidental Mutation 'R4117:Gm11492'
| ID |
315142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11492
|
| Ensembl Gene |
ENSMUSG00000090107 |
| Gene Name |
predicted gene 11492 |
| Synonyms |
|
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87566653-87569250 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87568282 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 494
(F494S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060360]
[ENSMUST00000122945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060360
AA Change: F494S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: F494S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4655
|
13 |
369 |
1.7e-99 |
PFAM |
|
Pfam:DUF4655
|
366 |
509 |
2.7e-68 |
PFAM |
|
low complexity region
|
511 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122945
|
| SMART Domains |
Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
101 |
N/A |
INTRINSIC |
|
Pfam:DUF258
|
116 |
212 |
2.4e-7 |
PFAM |
|
Pfam:Septin
|
134 |
213 |
9.1e-31 |
PFAM |
|
Pfam:MMR_HSR1
|
139 |
213 |
5.5e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.2592 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,556,393 (GRCm38) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,767,992 (GRCm38) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,046,763 (GRCm38) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 (GRCm38) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 105,849,700 (GRCm38) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,988,671 (GRCm38) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,351,566 (GRCm38) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,630,116 (GRCm38) |
D434A |
probably damaging |
Het |
| Gm11127 |
T |
C |
17: 36,057,604 (GRCm38) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 96,500,615 (GRCm38) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 21,037,590 (GRCm38) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,705,934 (GRCm38) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 4,987,363 (GRCm38) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,241,012 (GRCm38) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,774,477 (GRCm38) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,348,042 (GRCm38) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,360,888 (GRCm38) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,213,645 (GRCm38) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 22,067,716 (GRCm38) |
N122Y |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,015,596 (GRCm38) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,852,372 (GRCm38) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 125,468,510 (GRCm38) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,361,132 (GRCm38) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm38) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,266,147 (GRCm38) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,720,965 (GRCm38) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,194,840 (GRCm38) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,715,717 (GRCm38) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 110,091,913 (GRCm38) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,698,682 (GRCm38) |
I64V |
probably damaging |
Het |
|
| Other mutations in Gm11492 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01803:Gm11492
|
APN |
11 |
87,568,249 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01993:Gm11492
|
APN |
11 |
87,567,729 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02566:Gm11492
|
APN |
11 |
87,567,642 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03213:Gm11492
|
APN |
11 |
87,567,358 (GRCm38) |
splice site |
probably null |
|
|
IGL03388:Gm11492
|
APN |
11 |
87,568,216 (GRCm38) |
nonsense |
probably null |
|
|
R0050:Gm11492
|
UTSW |
11 |
87,567,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Gm11492
|
UTSW |
11 |
87,567,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1851:Gm11492
|
UTSW |
11 |
87,568,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Gm11492
|
UTSW |
11 |
87,567,235 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1913:Gm11492
|
UTSW |
11 |
87,567,012 (GRCm38) |
missense |
probably benign |
|
|
R3149:Gm11492
|
UTSW |
11 |
87,567,244 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3176:Gm11492
|
UTSW |
11 |
87,567,244 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R3276:Gm11492
|
UTSW |
11 |
87,567,244 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4021:Gm11492
|
UTSW |
11 |
87,567,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4332:Gm11492
|
UTSW |
11 |
87,567,904 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4515:Gm11492
|
UTSW |
11 |
87,568,057 (GRCm38) |
missense |
probably benign |
|
|
R4663:Gm11492
|
UTSW |
11 |
87,567,603 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4952:Gm11492
|
UTSW |
11 |
87,567,772 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5015:Gm11492
|
UTSW |
11 |
87,567,217 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5176:Gm11492
|
UTSW |
11 |
87,567,532 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5711:Gm11492
|
UTSW |
11 |
87,567,897 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6305:Gm11492
|
UTSW |
11 |
87,567,319 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9289:Gm11492
|
UTSW |
11 |
87,568,966 (GRCm38) |
nonsense |
probably null |
|
|
T0970:Gm11492
|
UTSW |
11 |
87,567,732 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Gm11492
|
UTSW |
11 |
87,567,922 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAACCTAAGTCGCCTCC -3'
(R):5'- CTCTGATGTCAGCAGCTTGG -3'
Sequencing Primer
(F):5'- CCCTTTAGAGTCCTTTTATGAAATGG -3'
(R):5'- CTTGGGGCTCACTGAAGCTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation