Incidental Mutation 'RF063:Lrtm1'
| ID |
605467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrtm1
|
| Ensembl Gene |
ENSMUSG00000045776 |
| Gene Name |
leucine-rich repeats and transmembrane domains 1 |
| Synonyms |
A930016D02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
RF063 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
28740165-28755599 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TAGCCTCAGTGGCC to T
at 28743400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000055662]
[ENSMUST00000224708]
[ENSMUST00000224760]
|
| AlphaFold |
Q8BXQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022567
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
Blast:WNT1
|
28 |
103 |
2e-33 |
BLAST |
|
Pfam:VWA_N
|
113 |
229 |
6.8e-40 |
PFAM |
|
VWA
|
254 |
439 |
4.13e-24 |
SMART |
|
Pfam:Cache_1
|
452 |
548 |
3e-32 |
PFAM |
|
low complexity region
|
1070 |
1088 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055662
|
| SMART Domains |
Protein: ENSMUSP00000061828
Gene: ENSMUSG00000045776
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
32 |
66 |
4.41e-6 |
SMART |
|
LRR
|
65 |
84 |
2.33e2 |
SMART |
|
LRR
|
85 |
108 |
2.67e-1 |
SMART |
|
LRR
|
109 |
131 |
1.15e1 |
SMART |
|
LRR_TYP
|
133 |
156 |
3.89e-3 |
SMART |
|
LRRCT
|
192 |
245 |
8.63e-6 |
SMART |
|
transmembrane domain
|
297 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224760
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,846 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,847 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,337,409 (GRCm39) |
E2421D |
probably damaging |
Het |
| Apc |
A |
AATAAAGCCC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGCGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
GTGCCGGTGCCCGT |
G |
12: 40,894,398 (GRCm39) |
|
probably null |
Het |
| F11r |
CCCCCCCCC |
CCCCCCCCCCC |
1: 171,288,758 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTACGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTGCTGGTG |
GTGCTGGTGCGTCTGCTGGTG |
5: 110,526,009 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTT |
TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT |
9: 106,447,816 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
AGGCCACCACTGCTCACAGGTGCTGTACCT |
A |
7: 80,373,499 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
GCT |
GCTCCT |
5: 25,520,762 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AACA |
AACAACA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,394 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
C |
CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA |
5: 90,756,801 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
TGTGCC |
TGTGCCCGTGCC |
11: 32,373,051 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
ATACATACATACCT |
AT |
5: 36,311,155 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
CCAG |
CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG |
5: 77,164,273 (GRCm39) |
|
probably benign |
Het |
| Sry |
TGCTGCTGCTGCTGCTG |
T |
Y: 2,662,595 (GRCm39) |
|
probably null |
Het |
| Stard8 |
GAG |
GAGTAG |
X: 98,110,130 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
GATCCCCTTGGC |
GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC |
18: 60,966,645 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGTTGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lrtm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Lrtm1
|
APN |
14 |
28,743,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0102:Lrtm1
|
UTSW |
14 |
28,744,184 (GRCm39) |
splice site |
probably benign |
|
|
R0102:Lrtm1
|
UTSW |
14 |
28,744,184 (GRCm39) |
splice site |
probably benign |
|
|
R0602:Lrtm1
|
UTSW |
14 |
28,744,179 (GRCm39) |
splice site |
probably benign |
|
|
R5214:Lrtm1
|
UTSW |
14 |
28,743,651 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5253:Lrtm1
|
UTSW |
14 |
28,743,801 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5787:Lrtm1
|
UTSW |
14 |
28,743,947 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5937:Lrtm1
|
UTSW |
14 |
28,743,787 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6238:Lrtm1
|
UTSW |
14 |
28,749,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6850:Lrtm1
|
UTSW |
14 |
28,749,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7304:Lrtm1
|
UTSW |
14 |
28,744,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7363:Lrtm1
|
UTSW |
14 |
28,743,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7385:Lrtm1
|
UTSW |
14 |
28,749,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Lrtm1
|
UTSW |
14 |
28,743,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Lrtm1
|
UTSW |
14 |
28,743,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF036:Lrtm1
|
UTSW |
14 |
28,743,400 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGAGGTCCTTTTAGAACTGTG -3'
(R):5'- ACATTTCATGGGGCAGCTG -3'
Sequencing Primer
(F):5'- CCTTTTAGAACTGTGGGCATCAGC -3'
(R):5'- GAGCAGGAGACCCACACTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation