Incidental Mutation 'R3969:Lins1'
ID |
310875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lins1
|
Ensembl Gene |
ENSMUSG00000053091 |
Gene Name |
lines homolog 1 |
Synonyms |
2700083B01Rik, Wins2, Lins |
MMRRC Submission |
040937-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R3969 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
66339637-66367004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 66357946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 27
(T27I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065323]
[ENSMUST00000077967]
[ENSMUST00000121777]
[ENSMUST00000130161]
[ENSMUST00000133771]
[ENSMUST00000150071]
[ENSMUST00000153007]
[ENSMUST00000153773]
|
AlphaFold |
Q3U1D0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065323
AA Change: T27I
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077967
AA Change: T27I
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000077117 Gene: ENSMUSG00000053091 AA Change: T27I
Domain | Start | End | E-Value | Type |
Pfam:LINES_N
|
204 |
554 |
1.6e-119 |
PFAM |
low complexity region
|
641 |
652 |
N/A |
INTRINSIC |
low complexity region
|
684 |
699 |
N/A |
INTRINSIC |
Pfam:LINES_C
|
717 |
755 |
5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121777
AA Change: T27I
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112404 Gene: ENSMUSG00000053091 AA Change: T27I
Domain | Start | End | E-Value | Type |
Pfam:LINES_N
|
210 |
558 |
9.5e-150 |
PFAM |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
low complexity region
|
689 |
704 |
N/A |
INTRINSIC |
Pfam:LINES_C
|
723 |
759 |
2.4e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128486
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130161
AA Change: T27I
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132181
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132351
AA Change: T7I
|
SMART Domains |
Protein: ENSMUSP00000115180 Gene: ENSMUSG00000053091 AA Change: T7I
Domain | Start | End | E-Value | Type |
Pfam:LINES_N
|
155 |
244 |
1.1e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133771
AA Change: T27I
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150071
AA Change: T27I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153007
AA Change: T27I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153773
|
SMART Domains |
Protein: ENSMUSP00000119187 Gene: ENSMUSG00000053091
Domain | Start | End | E-Value | Type |
Pfam:LINES_N
|
75 |
229 |
1.3e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133199
|
SMART Domains |
Protein: ENSMUSP00000115124 Gene: ENSMUSG00000053091
Domain | Start | End | E-Value | Type |
Pfam:LINES_N
|
1 |
220 |
3.4e-74 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (48/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. [provided by RefSeq, Sep 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
probably damaging |
Het |
|
Other mutations in Lins1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00672:Lins1
|
APN |
7 |
66,364,279 (GRCm39) |
nonsense |
probably null |
|
IGL01402:Lins1
|
APN |
7 |
66,363,676 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01404:Lins1
|
APN |
7 |
66,363,676 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01887:Lins1
|
APN |
7 |
66,360,129 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02887:Lins1
|
APN |
7 |
66,363,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R0089:Lins1
|
UTSW |
7 |
66,361,796 (GRCm39) |
unclassified |
probably benign |
|
R1473:Lins1
|
UTSW |
7 |
66,361,794 (GRCm39) |
critical splice donor site |
probably null |
|
R1556:Lins1
|
UTSW |
7 |
66,360,385 (GRCm39) |
nonsense |
probably null |
|
R1580:Lins1
|
UTSW |
7 |
66,364,239 (GRCm39) |
missense |
probably benign |
0.10 |
R1794:Lins1
|
UTSW |
7 |
66,361,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Lins1
|
UTSW |
7 |
66,364,070 (GRCm39) |
missense |
probably damaging |
0.98 |
R4760:Lins1
|
UTSW |
7 |
66,364,435 (GRCm39) |
unclassified |
probably benign |
|
R4766:Lins1
|
UTSW |
7 |
66,360,389 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4811:Lins1
|
UTSW |
7 |
66,357,898 (GRCm39) |
missense |
probably benign |
0.00 |
R4941:Lins1
|
UTSW |
7 |
66,359,198 (GRCm39) |
splice site |
probably benign |
|
R5419:Lins1
|
UTSW |
7 |
66,357,843 (GRCm39) |
unclassified |
probably benign |
|
R6140:Lins1
|
UTSW |
7 |
66,361,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Lins1
|
UTSW |
7 |
66,360,496 (GRCm39) |
critical splice donor site |
probably null |
|
R6713:Lins1
|
UTSW |
7 |
66,358,230 (GRCm39) |
missense |
probably benign |
0.00 |
R6787:Lins1
|
UTSW |
7 |
66,363,902 (GRCm39) |
missense |
probably benign |
0.32 |
R7176:Lins1
|
UTSW |
7 |
66,363,553 (GRCm39) |
missense |
probably benign |
0.10 |
R7455:Lins1
|
UTSW |
7 |
66,361,692 (GRCm39) |
missense |
probably benign |
0.14 |
R7761:Lins1
|
UTSW |
7 |
66,363,853 (GRCm39) |
nonsense |
probably null |
|
R9020:Lins1
|
UTSW |
7 |
66,357,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Lins1
|
UTSW |
7 |
66,358,119 (GRCm39) |
nonsense |
probably null |
|
Z1176:Lins1
|
UTSW |
7 |
66,360,012 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAAGTGAACACAGTCTTGTTTC -3'
(R):5'- GAAGCTGTCTCTTGGGACACTC -3'
Sequencing Primer
(F):5'- GTGAACACAGTCTTGTTTCACTTG -3'
(R):5'- CACTGGCATTAGACTGAG -3'
|
Posted On |
2015-04-29 |