Incidental Mutation 'R4257:Gm5414'
ID |
321872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5414
|
Ensembl Gene |
ENSMUSG00000064232 |
Gene Name |
predicted gene 5414 |
Synonyms |
|
MMRRC Submission |
041070-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R4257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101532463-101536623 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101533107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 440
(L440P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062879]
|
AlphaFold |
Q6IFZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062879
AA Change: L440P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059101 Gene: ENSMUSG00000064232 AA Change: L440P
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 |
|
Meta Mutation Damage Score |
0.9333 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
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 |
R3033:Gm5414
|
UTSW |
15 |
101,533,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Gm5414
|
UTSW |
15 |
101,533,988 (GRCm39) |
missense |
probably benign |
|
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'- AAGGAGTTTCTTGAAGGGACC -3'
(R):5'- TCACCAGAAACCATGGTCTG -3'
Sequencing Primer
(F):5'- AAGGGACCATTATGGCTAGTGCTC -3'
(R):5'- GAGATGCACACTCCACGATTG -3'
|
Posted On |
2015-06-20 |