Incidental Mutation 'R6713:Lins1'
| ID |
529213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lins1
|
| Ensembl Gene |
ENSMUSG00000053091 |
| Gene Name |
lines homolog 1 |
| Synonyms |
2700083B01Rik, Wins2, Lins |
| MMRRC Submission |
044831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66339637-66367004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66358230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 122
(T122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065323]
[ENSMUST00000077967]
[ENSMUST00000121777]
[ENSMUST00000130161]
[ENSMUST00000133771]
[ENSMUST00000153773]
[ENSMUST00000150071]
[ENSMUST00000153007]
|
| AlphaFold |
Q3U1D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065323
AA Change: T122A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077967
AA Change: T122A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077117
Gene: ENSMUSG00000053091
AA Change: T122A
| 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: T122A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112404
Gene: ENSMUSG00000053091
AA Change: T122A
| 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: T122A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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
AA Change: T122A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: ENSMUST00000150071
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153007
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
| Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
| Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,847,432 (GRCm39) |
M484K |
probably benign |
Het |
| Glb1l |
A |
T |
1: 75,179,061 (GRCm39) |
H253Q |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
| Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
| Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
| Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nags |
C |
A |
11: 102,037,347 (GRCm39) |
A146E |
probably benign |
Het |
| Nkain4 |
C |
T |
2: 180,585,970 (GRCm39) |
G31D |
probably damaging |
Het |
| Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
| Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
| Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
| Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
| Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
| Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
| Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
| St8sia1 |
A |
T |
6: 142,775,008 (GRCm39) |
|
probably null |
Het |
| Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp619 |
G |
T |
7: 39,187,322 (GRCm39) |
K1117N |
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 |
|
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 |
|
|
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'- AGCTCAGTCTAATGCCAGTG -3'
(R):5'- AGCCATGTGGGACAACAAC -3'
Sequencing Primer
(F):5'- CAGTCTAATGCCAGTGGTGTGC -3'
(R):5'- CAACTTGTCAGAATTCTGGAGCATGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation