Incidental Mutation 'R3757:Layn'
ID |
271482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Layn
|
Ensembl Gene |
ENSMUSG00000060594 |
Gene Name |
layilin |
Synonyms |
LOC244864, E030012M19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R3757 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50966323-50988501 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50970856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 229
(E229G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098782]
[ENSMUST00000214452]
[ENSMUST00000217212]
|
AlphaFold |
Q8C351 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098782
AA Change: E229G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000096379 Gene: ENSMUSG00000060594 AA Change: E229G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
CLECT
|
41 |
185 |
6.18e-25 |
SMART |
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216453
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217212
AA Change: E229G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
Meta Mutation Damage Score |
0.0902 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
Other mutations in Layn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00921:Layn
|
APN |
9 |
50,968,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01145:Layn
|
APN |
9 |
50,985,346 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02006:Layn
|
APN |
9 |
50,968,591 (GRCm39) |
intron |
probably benign |
|
IGL02226:Layn
|
APN |
9 |
50,985,317 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4677001:Layn
|
UTSW |
9 |
50,968,711 (GRCm39) |
missense |
probably damaging |
0.98 |
R1464:Layn
|
UTSW |
9 |
50,968,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Layn
|
UTSW |
9 |
50,968,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Layn
|
UTSW |
9 |
50,970,833 (GRCm39) |
missense |
probably benign |
0.03 |
R2156:Layn
|
UTSW |
9 |
50,968,697 (GRCm39) |
missense |
probably benign |
|
R3732:Layn
|
UTSW |
9 |
50,970,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Layn
|
UTSW |
9 |
50,970,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Layn
|
UTSW |
9 |
50,970,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Layn
|
UTSW |
9 |
50,968,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R5792:Layn
|
UTSW |
9 |
50,979,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7185:Layn
|
UTSW |
9 |
50,985,173 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7216:Layn
|
UTSW |
9 |
50,988,352 (GRCm39) |
start gained |
probably benign |
|
R7404:Layn
|
UTSW |
9 |
50,968,670 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8784:Layn
|
UTSW |
9 |
50,970,781 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9228:Layn
|
UTSW |
9 |
50,968,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R9248:Layn
|
UTSW |
9 |
50,968,760 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9725:Layn
|
UTSW |
9 |
50,968,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATGGCCTTTAATGATGCC -3'
(R):5'- ACTGCATCTATCTCCTAGAATGTGC -3'
Sequencing Primer
(F):5'- GCCTTTAATGATGCCAGCCAG -3'
(R):5'- TCTATCTCCTAGAATGTGCTGTTTAG -3'
|
Posted On |
2015-03-18 |