Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Lkaaear1'

527567

Institutional Source

Beutler Lab

Gene Symbol

Lkaaear1

Ensembl Gene

ENSMUSG00000045794

Gene Name

LKAAEAR motif containing 1 (IKAAEAR murine motif)

Synonyms

LOC277496, 4930526D03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6683 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

181696793-181698442 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG to TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG at 181697561 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

noncoding transcript
Transcript: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130712

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445	E169G	possibly damaging	Het
Acat2	G	A	17: 12,943,927	R377C	probably benign	Het
Adgrg6	A	G	10: 14,456,167	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301	H86R	probably damaging	Het
BC028528	T	C	3: 95,888,227	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,237,805	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004	T357A	probably benign	Het
Ly6d	A	T	15: 74,762,450	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178	S327P	probably benign	Het
Ncoa7	T	C	10: 30,771,721	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,199,195	T83I	probably benign	Het
Nploc4	A	G	11: 120,383,330	S546P	probably damaging	Het
Olfr1444	A	G	19: 12,862,650	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Rapgef4	A	T	2: 72,054,779		probably benign	Het
Rlf	A	G	4: 121,147,926	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235		probably benign	Het
Ttn	A	G	2: 76,710,660	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,184,225	K799N	probably damaging	Het
Zfp42	G	A	8: 43,296,056	T136M	possibly damaging	Het
Znhit1	A	T	5: 136,982,633	S109T	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
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	181697579	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'- ATGTCGTAGGGTAACTCCACCG -3'
(R):5'- GATATGCACAGGGTCAGCTAC -3'

Sequencing Primer
(F):5'- TAGGGTAACTCCACCGACTCG -3'
(R):5'- TTAGGTGGCTACAGGAAGTCCC -3'

Posted On

2018-07-23