Incidental Mutation 'R1580:Lins1'
ID |
171353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lins1
|
Ensembl Gene |
ENSMUSG00000053091 |
Gene Name |
lines homolog 1 |
Synonyms |
2700083B01Rik, Wins2, Lins |
MMRRC Submission |
039617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R1580 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
66339637-66367004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 66364239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 711
(D711E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065323]
[ENSMUST00000077967]
[ENSMUST00000121777]
[ENSMUST00000130161]
[ENSMUST00000133771]
[ENSMUST00000153773]
|
AlphaFold |
Q3U1D0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065323
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077967
AA Change: D706E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000077117 Gene: ENSMUSG00000053091 AA Change: D706E
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: D711E
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112404 Gene: ENSMUSG00000053091 AA Change: D711E
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132181
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132351
|
SMART Domains |
Protein: ENSMUSP00000115180 Gene: ENSMUSG00000053091
Domain | Start | End | E-Value | Type |
Pfam:LINES_N
|
155 |
244 |
1.1e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133771
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
Validation Efficiency |
96% (43/45) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
possibly 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 |
|
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 |
R3969:Lins1
|
UTSW |
7 |
66,357,946 (GRCm39) |
missense |
probably benign |
0.31 |
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'- TGATGCCCAAGGAAACTCTCCCAG -3'
(R):5'- TACCCAGGGCTCAGACGTTAACAC -3'
Sequencing Primer
(F):5'- CACCGCAGAGTCTGGTAGATTATG -3'
(R):5'- GGCTCAGACGTTAACACACTTG -3'
|
Posted On |
2014-04-13 |