Incidental Mutation 'R9584:Gm10549'
| ID |
722725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10549
|
| Ensembl Gene |
ENSMUSG00000073610 |
| Gene Name |
predicted gene 10549 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9584 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
33597216-33607763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33597375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 54
(P54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051087]
[ENSMUST00000097634]
[ENSMUST00000168890]
[ENSMUST00000171533]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051087
|
| SMART Domains |
Protein: ENSMUSP00000058132
Gene: ENSMUSG00000042834
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000097634
AA Change: P54S
|
| SMART Domains |
Protein: ENSMUSP00000095236
Gene: ENSMUSG00000073610
AA Change: P54S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168890
|
| SMART Domains |
Protein: ENSMUSP00000130297
Gene: ENSMUSG00000042834
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171533
|
| SMART Domains |
Protein: ENSMUSP00000127787
Gene: ENSMUSG00000042834
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
G |
13: 70,949,136 (GRCm39) |
D175A |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,798,504 (GRCm39) |
N635Y |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,667 (GRCm39) |
V803A |
possibly damaging |
Het |
| Brsk1 |
T |
A |
7: 4,709,662 (GRCm39) |
S430T |
possibly damaging |
Het |
| Btbd8 |
A |
T |
5: 107,658,347 (GRCm39) |
H1639L |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,277,404 (GRCm39) |
L46P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 148,985,704 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
A |
T |
2: 121,230,301 (GRCm39) |
N344K |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,915,675 (GRCm39) |
S144G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,992,095 (GRCm39) |
L451F |
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,301,672 (GRCm39) |
F143L |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,861,481 (GRCm39) |
R1379* |
probably null |
Het |
| Dop1a |
C |
A |
9: 86,385,151 (GRCm39) |
L366I |
possibly damaging |
Het |
| Foxg1 |
G |
A |
12: 49,432,406 (GRCm39) |
V380M |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,301,910 (GRCm39) |
V94A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,322,849 (GRCm39) |
H52R |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,265 (GRCm39) |
S39P |
probably damaging |
Het |
| Knop1 |
G |
A |
7: 118,447,709 (GRCm39) |
S417L |
unknown |
Het |
| Muc1 |
C |
T |
3: 89,138,373 (GRCm39) |
T405I |
probably benign |
Het |
| Nlrp2 |
C |
A |
7: 5,322,215 (GRCm39) |
D811Y |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,958,431 (GRCm39) |
L206S |
probably benign |
Het |
| Or5ac19 |
A |
G |
16: 59,089,580 (GRCm39) |
L150S |
probably benign |
Het |
| Or8g17 |
G |
A |
9: 38,930,462 (GRCm39) |
A125V |
probably damaging |
Het |
| Orai3 |
G |
T |
7: 127,373,177 (GRCm39) |
R226L |
probably benign |
Het |
| Pacs1 |
T |
C |
19: 5,322,622 (GRCm39) |
M99V |
probably benign |
Het |
| Pag1 |
A |
G |
3: 9,761,214 (GRCm39) |
S298P |
probably damaging |
Het |
| Pde4c |
T |
C |
8: 71,200,728 (GRCm39) |
V419A |
probably benign |
Het |
| Pitpna |
C |
A |
11: 75,510,368 (GRCm39) |
N208K |
probably benign |
Het |
| Pnpo |
C |
A |
11: 96,831,705 (GRCm39) |
E114* |
probably null |
Het |
| Pou5f2 |
A |
G |
13: 78,173,592 (GRCm39) |
E178G |
possibly damaging |
Het |
| Psph |
G |
A |
5: 129,847,752 (GRCm39) |
R65C |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,241,789 (GRCm39) |
S106G |
possibly damaging |
Het |
| Synrg |
A |
G |
11: 83,900,200 (GRCm39) |
K724R |
probably damaging |
Het |
| Tet1 |
A |
T |
10: 62,655,306 (GRCm39) |
F1538L |
probably damaging |
Het |
| Thada |
G |
A |
17: 84,733,605 (GRCm39) |
T1014I |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,219,242 (GRCm39) |
W1165R |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,089 (GRCm39) |
H440Y |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,394,549 (GRCm39) |
D1550G |
probably benign |
Het |
|
| Other mutations in Gm10549 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02648:Gm10549
|
APN |
18 |
33,597,303 (GRCm39) |
unclassified |
probably benign |
|
|
R0374:Gm10549
|
UTSW |
18 |
33,597,235 (GRCm39) |
unclassified |
probably benign |
|
|
R0668:Gm10549
|
UTSW |
18 |
33,603,903 (GRCm39) |
missense |
unknown |
|
|
R1806:Gm10549
|
UTSW |
18 |
33,603,841 (GRCm39) |
missense |
unknown |
|
|
R4214:Gm10549
|
UTSW |
18 |
33,597,530 (GRCm39) |
splice site |
probably null |
|
|
R4826:Gm10549
|
UTSW |
18 |
33,603,838 (GRCm39) |
missense |
unknown |
|
|
R5747:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R5748:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R5766:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R5796:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6101:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6129:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6130:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6218:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6219:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6220:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6283:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6298:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6299:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6309:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6321:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6322:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6327:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6337:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6405:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6420:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6492:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6494:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R6505:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
|
R7173:Gm10549
|
UTSW |
18 |
33,597,462 (GRCm39) |
missense |
unknown |
|
|
R7724:Gm10549
|
UTSW |
18 |
33,603,912 (GRCm39) |
nonsense |
probably null |
|
|
R7829:Gm10549
|
UTSW |
18 |
33,597,463 (GRCm39) |
unclassified |
probably benign |
|
|
R9356:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
R9358:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
R9359:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATAATAAACCTGCGGCCGGG -3'
(R):5'- TACAGGGGCTGAGAACTTTG -3'
Sequencing Primer
(F):5'- CGGGGCATCTGAGGGAAC -3'
(R):5'- TCTAGGCTCTAGCGTCTCCGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation