Incidental Mutation 'R6219:Gm10549'
| ID |
503919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10549
|
| Ensembl Gene |
ENSMUSG00000073610 |
| Gene Name |
predicted gene 10549 |
| Synonyms |
|
| MMRRC Submission |
044351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6219 (G1)
|
| Quality Score |
176.009 |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
T |
C |
4: 136,190,059 (GRCm39) |
S147P |
unknown |
Het |
| Acat2 |
T |
C |
17: 13,179,604 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,792,553 (GRCm39) |
D349G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,445,678 (GRCm39) |
E523* |
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,375 (GRCm39) |
A52T |
possibly damaging |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cirop |
G |
T |
14: 54,933,116 (GRCm39) |
Q356K |
noncoding transcript |
Het |
| Cmya5 |
T |
C |
13: 93,230,951 (GRCm39) |
E1379G |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,558,189 (GRCm39) |
D822G |
possibly damaging |
Het |
| Cyp4a29 |
A |
C |
4: 115,106,927 (GRCm39) |
T195P |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,035,434 (GRCm39) |
T2283S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,745 (GRCm39) |
D2291G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,872,080 (GRCm39) |
L493F |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,876,520 (GRCm39) |
G227D |
probably damaging |
Het |
| Fmo2 |
A |
T |
1: 162,708,085 (GRCm39) |
V350D |
probably damaging |
Het |
| Glis1 |
C |
T |
4: 107,489,102 (GRCm39) |
P487S |
probably benign |
Het |
| Gm35315 |
G |
T |
5: 110,226,410 (GRCm39) |
T343K |
probably benign |
Het |
| Gpr141 |
A |
G |
13: 19,936,697 (GRCm39) |
I26T |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,446,941 (GRCm39) |
V311G |
possibly damaging |
Het |
| Ino80d |
C |
T |
1: 63,118,206 (GRCm39) |
E322K |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,121 (GRCm39) |
S1104P |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,097,851 (GRCm39) |
F1744L |
probably benign |
Het |
| Lcn10 |
A |
T |
2: 25,573,587 (GRCm39) |
R55* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,299,822 (GRCm39) |
C3077S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,566 (GRCm39) |
S826R |
probably benign |
Het |
| Nr2c1 |
G |
T |
10: 93,999,648 (GRCm39) |
V103L |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,663,612 (GRCm39) |
D310E |
possibly damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,093 (GRCm39) |
S219P |
possibly damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,359,187 (GRCm39) |
E112D |
probably damaging |
Het |
| Pira12 |
A |
T |
7: 3,897,640 (GRCm39) |
V485E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,153,594 (GRCm39) |
K2237E |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,466,940 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,459,770 (GRCm39) |
H1350L |
possibly damaging |
Het |
| Snx15 |
A |
G |
19: 6,171,538 (GRCm39) |
S179P |
probably damaging |
Het |
| Sp8 |
T |
G |
12: 118,812,402 (GRCm39) |
S86A |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,907,803 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,365,175 (GRCm39) |
S196P |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,530 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
T |
C |
19: 36,843,604 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,642,511 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
C |
A |
1: 37,139,779 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,078,340 (GRCm39) |
V312E |
probably damaging |
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 |
|
|
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'- TACAGGGGCTGAGAACTTTG -3'
Sequencing Primer
(F):5'- CGGGGCATCTGAGGGAAC -3'
(R):5'- TAGCGTCTCCGGTTGCAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation