Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Lkaaear1'

604264

Institutional Source

Beutler Lab

Gene Symbol

Lkaaear1

Ensembl Gene

ENSMUSG00000045794

Gene Name

LKAAEAR motif containing 1 (IKAAEAR murine motif)

Synonyms

LOC277496, 4930526D03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

RF029 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

181696793-181698442 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCTCCAGCTCCAGCTCCAGCTCCA to GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA at 181697579 bp (GRCm38)

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: 131,552,895		probably benign	Het
Abca17	T	TCCCTC	17: 24,287,727		probably benign	Het
Amot	GGAGCAGCAA	G	X: 145,450,988		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,541,351		probably null	Het
Cacna1a	CCA	CCAACA	8: 84,638,724		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,026		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 87,040,430		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 87,040,442		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,910,123		probably null	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Exd2	CCACAGC	CC	12: 80,475,946		probably null	Het
Fam171b	GCAGC	GCAGCATCAGC	2: 83,812,892		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTTCGTGTGCTGGT	5: 110,378,139		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008		probably null	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 72,270,059		probably benign	Het
Gm47955	G	GTTGTGGCTT	1: 82,960,527		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,169,442		probably benign	Het
Ifi208	AGATG	AG	1: 173,677,696		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,042,270		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,627,594		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,627,605		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Rasa2	CGC	CGCAGC	9: 96,631,467		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 156,096,095		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,707,966		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,835,735		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,835,745		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,801,323		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		probably benign	Het
Znrd1as	CG	CCACCACCACCACCCCCCCCAGG	17: 36,965,071		probably benign	Het

Other mutations in Lkaaear1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Lkaaear1	APN	2	181697334	missense	probably benign	0.00
IGL01508:Lkaaear1	APN	2	181697037	missense	probably benign	0.09
FR4304:Lkaaear1	UTSW	2	181697579	unclassified	probably benign
FR4340:Lkaaear1	UTSW	2	181697594	unclassified	probably benign
FR4449:Lkaaear1	UTSW	2	181697571	unclassified	probably benign
R3430:Lkaaear1	UTSW	2	181697531	missense	probably benign	0.02
R4994:Lkaaear1	UTSW	2	181697583	nonsense	probably null
R6683:Lkaaear1	UTSW	2	181697561	unclassified	probably benign
R6684:Lkaaear1	UTSW	2	181697561	unclassified	probably benign
R6685:Lkaaear1	UTSW	2	181697561	unclassified	probably benign
RF007:Lkaaear1	UTSW	2	181697559	unclassified	probably benign
RF007:Lkaaear1	UTSW	2	181697577	unclassified	probably benign
RF022:Lkaaear1	UTSW	2	181697577	unclassified	probably benign
RF029:Lkaaear1	UTSW	2	181697588	unclassified	probably benign
RF033:Lkaaear1	UTSW	2	181697588	unclassified	probably benign
RF036:Lkaaear1	UTSW	2	181697588	unclassified	probably benign
RF049:Lkaaear1	UTSW	2	181697574	unclassified	probably benign
RF052:Lkaaear1	UTSW	2	181697433	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