Incidental Mutation 'R3033:Gm5414'
ID |
263357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5414
|
Ensembl Gene |
ENSMUSG00000064232 |
Gene Name |
predicted gene 5414 |
Synonyms |
|
MMRRC Submission |
040549-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R3033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101532463-101536623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101533044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 461
(E461G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062879]
|
AlphaFold |
Q6IFZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062879
AA Change: E461G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059101 Gene: ENSMUSG00000064232 AA Change: E461G
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
15 |
148 |
3.3e-29 |
PFAM |
Filament
|
151 |
464 |
1.4e-143 |
SMART |
low complexity region
|
489 |
507 |
N/A |
INTRINSIC |
low complexity region
|
511 |
549 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
Aqp4 |
T |
A |
18: 15,526,617 (GRCm39) |
E288V |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
T |
C |
3: 94,845,351 (GRCm39) |
V149A |
probably benign |
Het |
Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
Tpte |
T |
A |
8: 22,810,888 (GRCm39) |
S182T |
possibly damaging |
Het |
Zfp58 |
T |
C |
13: 67,639,741 (GRCm39) |
E250G |
probably damaging |
Het |
|
Other mutations in Gm5414 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:Gm5414
|
APN |
15 |
101,536,569 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01774:Gm5414
|
APN |
15 |
101,535,410 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01939:Gm5414
|
APN |
15 |
101,534,105 (GRCm39) |
splice site |
probably benign |
|
IGL02205:Gm5414
|
APN |
15 |
101,534,304 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02411:Gm5414
|
APN |
15 |
101,536,269 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02720:Gm5414
|
APN |
15 |
101,533,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Gm5414
|
APN |
15 |
101,536,242 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03283:Gm5414
|
APN |
15 |
101,535,522 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4480001:Gm5414
|
UTSW |
15 |
101,536,181 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4504001:Gm5414
|
UTSW |
15 |
101,534,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R1905:Gm5414
|
UTSW |
15 |
101,533,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Gm5414
|
UTSW |
15 |
101,536,495 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3011:Gm5414
|
UTSW |
15 |
101,534,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Gm5414
|
UTSW |
15 |
101,533,988 (GRCm39) |
missense |
probably benign |
|
R4257:Gm5414
|
UTSW |
15 |
101,533,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4396:Gm5414
|
UTSW |
15 |
101,534,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R4648:Gm5414
|
UTSW |
15 |
101,536,543 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4912:Gm5414
|
UTSW |
15 |
101,533,445 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5095:Gm5414
|
UTSW |
15 |
101,532,473 (GRCm39) |
missense |
probably benign |
0.01 |
R5135:Gm5414
|
UTSW |
15 |
101,536,203 (GRCm39) |
missense |
probably damaging |
0.97 |
R5177:Gm5414
|
UTSW |
15 |
101,534,252 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5330:Gm5414
|
UTSW |
15 |
101,533,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Gm5414
|
UTSW |
15 |
101,533,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R5432:Gm5414
|
UTSW |
15 |
101,533,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R5521:Gm5414
|
UTSW |
15 |
101,536,422 (GRCm39) |
missense |
probably benign |
0.33 |
R5623:Gm5414
|
UTSW |
15 |
101,534,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6781:Gm5414
|
UTSW |
15 |
101,534,096 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8298:Gm5414
|
UTSW |
15 |
101,532,605 (GRCm39) |
missense |
unknown |
|
R8912:Gm5414
|
UTSW |
15 |
101,536,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9092:Gm5414
|
UTSW |
15 |
101,536,345 (GRCm39) |
missense |
probably benign |
0.01 |
R9721:Gm5414
|
UTSW |
15 |
101,536,582 (GRCm39) |
nonsense |
probably null |
|
RF001:Gm5414
|
UTSW |
15 |
101,536,388 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGTCAATCTCCATGGGAAC -3'
(R):5'- TGCAGAGATGCACACTCCAC -3'
Sequencing Primer
(F):5'- GGAACCCTCAATCTTGTGAAGG -3'
(R):5'- GCCAACCTGCAAGCTGCTATTG -3'
|
Posted On |
2015-02-05 |