Incidental Mutation 'RF029:Lkaaear1'
ID |
604264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lkaaear1
|
Ensembl Gene |
ENSMUSG00000045794 |
Gene Name |
LKAAEAR motif containing 1 (IKAAEAR murine motif) |
Synonyms |
4930526D03Rik, LOC277496 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
RF029 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
181338586-181340235 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
GCTCCAGCTCCAGCTCCAGCTCCA to GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA
at 181339372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002532]
[ENSMUST00000052416]
[ENSMUST00000108769]
[ENSMUST00000108771]
[ENSMUST00000108772]
[ENSMUST00000108776]
[ENSMUST00000108779]
|
AlphaFold |
Q8BIG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002532
|
SMART Domains |
Protein: ENSMUSP00000002532 Gene: ENSMUSG00000002458
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052416
|
SMART Domains |
Protein: ENSMUSP00000061134 Gene: ENSMUSG00000045794
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
Pfam:LKAAEAR
|
44 |
179 |
1.4e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108769
|
SMART Domains |
Protein: ENSMUSP00000104400 Gene: ENSMUSG00000002458
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
Pfam:RGS
|
90 |
160 |
4.2e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108771
|
SMART Domains |
Protein: ENSMUSP00000104402 Gene: ENSMUSG00000002458
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108772
|
SMART Domains |
Protein: ENSMUSP00000104403 Gene: ENSMUSG00000002458
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108776
|
SMART Domains |
Protein: ENSMUSP00000104406 Gene: ENSMUSG00000002458
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108779
|
SMART Domains |
Protein: ENSMUSP00000104409 Gene: ENSMUSG00000002458
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132409
|
SMART Domains |
Protein: ENSMUSP00000116083 Gene: ENSMUSG00000045794
Domain | Start | End | E-Value | Type |
Pfam:LKAAEAR
|
1 |
91 |
7.2e-34 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,529,858 (GRCm39) |
|
probably benign |
Het |
Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
ACC |
ACCGCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
Exd2 |
CCACAGC |
CC |
12: 80,522,720 (GRCm39) |
|
probably null |
Het |
Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
Polr1has |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 37,275,963 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lkaaear1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Lkaaear1
|
APN |
2 |
181,339,127 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01508:Lkaaear1
|
APN |
2 |
181,338,830 (GRCm39) |
missense |
probably benign |
0.09 |
FR4304:Lkaaear1
|
UTSW |
2 |
181,339,372 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Lkaaear1
|
UTSW |
2 |
181,339,387 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Lkaaear1
|
UTSW |
2 |
181,339,364 (GRCm39) |
unclassified |
probably benign |
|
R3430:Lkaaear1
|
UTSW |
2 |
181,339,324 (GRCm39) |
missense |
probably benign |
0.02 |
R4994:Lkaaear1
|
UTSW |
2 |
181,339,376 (GRCm39) |
nonsense |
probably null |
|
R6683:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
R6684:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
R6685:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
RF007:Lkaaear1
|
UTSW |
2 |
181,339,370 (GRCm39) |
unclassified |
probably benign |
|
RF007:Lkaaear1
|
UTSW |
2 |
181,339,352 (GRCm39) |
unclassified |
probably benign |
|
RF022:Lkaaear1
|
UTSW |
2 |
181,339,370 (GRCm39) |
unclassified |
probably benign |
|
RF029:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
RF033:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
RF036:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
RF049:Lkaaear1
|
UTSW |
2 |
181,339,367 (GRCm39) |
unclassified |
probably benign |
|
RF052:Lkaaear1
|
UTSW |
2 |
181,339,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAACATGGAGGCCACCTTG -3'
(R):5'- GAGGATCAGAAAGTCATGGCCTAC -3'
Sequencing Primer
(F):5'- CTTGCCTATGTCGTCAAGAAAGTCG -3'
(R):5'- ATGGCCTACTGCAGATATGC -3'
|
Posted On |
2019-12-04 |