Mutagenetix > Incidental Mutation

Incidental Mutation 'RF033:Lkaaear1'

604439

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) question?

Stock #

RF033 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

181338586-181340235 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCAGCTCCAGCT to CCAGCTCCAGCTTCAGCTCCAGCT at 181339381 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: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGTCG	19: 5,475,252 (GRCm39)	probably benign	Het
AI837181	CG	CGGTG	19: 5,475,265 (GRCm39)	probably benign	Het
Arid1b	GGGG	GGGGGGG	17: 5,045,860 (GRCm39)	probably benign	Het
AY761185	CCCGGGCACT	C	8: 21,433,904 (GRCm39)	probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,655 (GRCm39)	probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)	probably null	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,503,444 (GRCm39)	probably benign	Het
Dennd10	ACTC	ACTCCTC	19: 60,803,056 (GRCm39)	probably benign	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)	probably benign	Het
Fbrsl1	GTG	GTGAGTGTGCTGATG	5: 110,525,991 (GRCm39)	probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,607 (GRCm39)	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,629 (GRCm39)	probably benign	Het
Gm47955	TGG	TGGTTGTGGCGG	1: 82,938,246 (GRCm39)	probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,025 (GRCm39)	probably null	Het
Gm8369	GTGTGT	GTGTGTCTGTGT	19: 11,489,142 (GRCm39)	probably benign	Het
Heatr3	TTAT	TTATGTAT	8: 88,883,084 (GRCm39)	probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,179,913 (GRCm39)	probably benign	Het
Il2	GG	GGGCTTGGAGTGTG	3: 37,179,991 (GRCm39)	probably benign	Het
Luzp1	A	AGGTGTCCTCTTCAGC	4: 136,270,507 (GRCm39)	probably benign	Het
Mamld1	GCA	GCATCA	X: 70,162,439 (GRCm39)	probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA	2: 121,136,780 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,402 (GRCm39)	probably benign	Het
Med12l	GC	GCATC	3: 59,183,416 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,408 (GRCm39)	probably benign	Het
Nalf2	CG	CGCCGCTG	X: 98,864,979 (GRCm39)	probably benign	Het
Ncoa6	TGCAGC	TGC	2: 155,263,651 (GRCm39)	probably benign	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG	11: 4,891,039 (GRCm39)	probably benign	Het
Nefh	GGGGACTTG	GGGGACTTGTCCTCACCTGGGACTTG	11: 4,891,029 (GRCm39)	probably null	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nusap1	GCAAGCTGAGA	GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA	2: 119,458,081 (GRCm39)	probably benign	Het
P4ha3	GGGGG	GGGGGG	7: 99,960,017 (GRCm39)	probably null	Het
Pdia4	ATCCTCTTCCTC	ATC	6: 47,785,222 (GRCm39)	probably benign	Het
Pkhd1l1	TTT	TTTTTTTTTTCTT	15: 44,421,902 (GRCm39)	probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)	probably null	Het
Rbm12	TTG	TTGTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,938,002 (GRCm39)	probably benign	Het
Rbm12	TG	TGTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,938,003 (GRCm39)	probably benign	Het
Rbm12	G	GTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,938,004 (GRCm39)	probably benign	Het
Rbm12	GTATTG	GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,937,999 (GRCm39)	probably benign	Het
Rbm12	TATTG	TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG	2: 155,938,000 (GRCm39)	probably benign	Het
Spmap2l	ATCCTCCCCAGTCCCGCAAGGCCAG	ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG	5: 77,164,252 (GRCm39)	probably benign	Het
Spmap2l	G	GCGATCCTCCCCAGTCCCGCAAGGCCAC	5: 77,164,276 (GRCm39)	probably benign	Het
Tmem59	TGTTT	TGTTTGTTGGTTT	4: 107,047,725 (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
RF029:Lkaaear1	UTSW	2	181,339,372 (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'- AAACATGGAGGCCACCTTGC -3'
(R):5'- AGAAAGTCATGGCCTACTGCAG -3'

Sequencing Primer
(F):5'- CTTGCCTATGTCGTCAAGAAAGTCG -3'
(R):5'- ATGGCCTACTGCAGATATGC -3'

Posted On

2019-12-04