Incidental Mutation 'R5747:Gm10549'
| ID |
499931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10549
|
| Ensembl Gene |
ENSMUSG00000073610 |
| Gene Name |
predicted gene 10549 |
| Synonyms |
|
| MMRRC Submission |
043354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5747 (G1)
|
| Quality Score |
75 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
33597216-33607763 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 33597358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127787
(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: A48D
|
| SMART Domains |
Protein: ENSMUSP00000095236
Gene: ENSMUSG00000073610
AA Change: A48D
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
T |
1: 25,865,643 (GRCm39) |
Y67N |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,564,352 (GRCm39) |
T12A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,466,836 (GRCm39) |
V1620A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,735,400 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,611,814 (GRCm39) |
V176M |
possibly damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,625,735 (GRCm39) |
D190N |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,416 (GRCm39) |
L93P |
probably damaging |
Het |
| Crebl2 |
C |
T |
6: 134,828,103 (GRCm39) |
L92F |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,521,862 (GRCm39) |
|
probably null |
Het |
| Echs1 |
T |
C |
7: 139,691,725 (GRCm39) |
|
probably benign |
Het |
| Eif1ad16 |
C |
T |
12: 87,985,366 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,520 (GRCm39) |
I163T |
probably damaging |
Het |
| Fdft1 |
A |
G |
14: 63,384,288 (GRCm39) |
S388P |
probably damaging |
Het |
| Gbx2 |
A |
G |
1: 89,856,437 (GRCm39) |
S318P |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,323,319 (GRCm39) |
T165S |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5093 |
T |
G |
17: 46,750,916 (GRCm39) |
E37A |
possibly damaging |
Het |
| Gm527 |
A |
T |
12: 64,967,620 (GRCm39) |
N14I |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,827,235 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,399,870 (GRCm39) |
T287A |
probably benign |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,273 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Igkv8-28 |
T |
C |
6: 70,121,141 (GRCm39) |
E2G |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,209,576 (GRCm39) |
Y318* |
probably null |
Het |
| Kcnh5 |
T |
C |
12: 74,945,194 (GRCm39) |
E685G |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 58,001,183 (GRCm39) |
|
probably benign |
Het |
| Ldhal6b |
A |
C |
17: 5,468,094 (GRCm39) |
V280G |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,703 (GRCm39) |
T182A |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,464,038 (GRCm39) |
D272G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,904 (GRCm39) |
T76A |
probably benign |
Het |
| Map3k3 |
A |
G |
11: 106,041,236 (GRCm39) |
T402A |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,737 (GRCm39) |
M68V |
probably damaging |
Het |
| Or1j15 |
A |
T |
2: 36,458,979 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,541 (GRCm39) |
E289G |
probably benign |
Het |
| Rnf17 |
T |
C |
14: 56,703,276 (GRCm39) |
|
probably null |
Het |
| Rp9 |
A |
G |
9: 22,359,960 (GRCm39) |
|
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,927,634 (GRCm39) |
Q92R |
probably benign |
Het |
| Sema6d |
C |
T |
2: 124,506,867 (GRCm39) |
P879S |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,658 (GRCm39) |
M114K |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,011 (GRCm39) |
Y521N |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,901,337 (GRCm39) |
N24I |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,984,952 (GRCm39) |
D815E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,848,738 (GRCm39) |
D656G |
probably damaging |
Het |
| Susd1 |
T |
A |
4: 59,424,108 (GRCm39) |
N39I |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,853 (GRCm39) |
T417I |
probably benign |
Het |
| Wdr31 |
C |
T |
4: 62,381,637 (GRCm39) |
V65I |
probably damaging |
Het |
| Zfp783 |
T |
C |
6: 47,925,829 (GRCm39) |
|
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 |
|
|
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 |
|
|
R9584:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAATAAACCTGCGGCCGGG -3'
(R):5'- ACAGGGGCTGAGAACTTTG -3'
Sequencing Primer
(F):5'- CGGGGCATCTGAGGGAAC -3'
(R):5'- TAGCGTCTCCGGTTGCAC -3'
|
| Posted On |
2017-11-28 |
Incidental Mutation