Incidental Mutation 'R6140:Lins1'
| ID |
488537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lins1
|
| Ensembl Gene |
ENSMUSG00000053091 |
| Gene Name |
lines homolog 1 |
| Synonyms |
2700083B01Rik, Wins2, Lins |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66339637-66367004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66361672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 441
(L441P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065323]
[ENSMUST00000077967]
[ENSMUST00000121777]
[ENSMUST00000130161]
[ENSMUST00000150071]
[ENSMUST00000133771]
[ENSMUST00000153007]
[ENSMUST00000153773]
|
| AlphaFold |
Q3U1D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065323
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077967
AA Change: L436P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077117
Gene: ENSMUSG00000053091
AA Change: L436P
| 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 damaging
Transcript: ENSMUST00000121777
AA Change: L441P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112404
Gene: ENSMUSG00000053091
AA Change: L441P
| 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: 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: ENSMUST00000150071
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133771
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153007
|
| 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 |
0.1936 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
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 |
|
|
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'- CGTCTAGGGCTTTCTGAGAG -3'
(R):5'- TTTCATGCAAGGCAGAGCTG -3'
Sequencing Primer
(F):5'- CTGAGAGTGTGGATTACAGTAATGC -3'
(R):5'- CAGATAGAAACCCACTTTCTGATGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation