Incidental Mutation 'R6787:Lins1'
| ID |
532433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lins1
|
| Ensembl Gene |
ENSMUSG00000053091 |
| Gene Name |
lines homolog 1 |
| Synonyms |
2700083B01Rik, Wins2, Lins |
| MMRRC Submission |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6787 (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 66363902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 594
(E594G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077117
(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: E594G
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077117
Gene: ENSMUSG00000053091
AA Change: E594G
| 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: E599G
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112404
Gene: ENSMUSG00000053091
AA Change: E599G
| 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 |
probably benign
Transcript: ENSMUST00000130161
|
| 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: ENSMUST00000133771
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,126,768 (GRCm39) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 61,000,922 (GRCm39) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,508 (GRCm39) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,726,242 (GRCm39) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,021 (GRCm39) |
V73A |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| BC035947 |
G |
T |
1: 78,475,527 (GRCm39) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,553 (GRCm39) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,342,924 (GRCm39) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,046,374 (GRCm39) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,607 (GRCm39) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,312,866 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,022,089 (GRCm39) |
I569V |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,752,701 (GRCm39) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,894,976 (GRCm39) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,093,402 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,561,744 (GRCm39) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,260,211 (GRCm39) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 70,266,436 (GRCm39) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,379,758 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,766 (GRCm39) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,360,247 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,119,609 (GRCm39) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,125,670 (GRCm39) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,480,737 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,091,020 (GRCm39) |
I1620T |
unknown |
Het |
| Lrrc38 |
T |
A |
4: 143,096,364 (GRCm39) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,399,090 (GRCm39) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,874 (GRCm39) |
F38S |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,458,714 (GRCm39) |
G150R |
probably damaging |
Het |
| Oas2 |
T |
G |
5: 120,876,863 (GRCm39) |
I391L |
possibly damaging |
Het |
| Or4a70 |
T |
A |
2: 89,324,378 (GRCm39) |
R93* |
probably null |
Het |
| Or5p72 |
T |
C |
7: 108,021,889 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,391 (GRCm39) |
D173V |
possibly damaging |
Het |
| Or7e178 |
T |
C |
9: 20,247,221 (GRCm39) |
D14G |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,342,063 (GRCm39) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,656,810 (GRCm39) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,464,489 (GRCm39) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,747,649 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,703,501 (GRCm39) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,842,740 (GRCm39) |
V397I |
possibly damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,834 (GRCm39) |
M73K |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,770,487 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
T |
C |
6: 141,882,213 (GRCm39) |
I119V |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,759,418 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,754,948 (GRCm39) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,992,591 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,929,710 (GRCm39) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,623 (GRCm39) |
I363N |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,499 (GRCm39) |
N134K |
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 |
|
|
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 |
|
|
R6713:Lins1
|
UTSW |
7 |
66,358,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CATGGCTGTAACCCTCACTG -3'
(R):5'- GTGGTTTCCTCCTCAGAAGC -3'
Sequencing Primer
(F):5'- GACTTCTTGATATCCTCAGAGACCTG -3'
(R):5'- CTTCGGAGCTGTCATAATCTACCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation