Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Elfn2'

366014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elfn2

Ensembl Gene

ENSMUSG00000043460

Gene Name

leucine rich repeat and fibronectin type III, extracellular 2

Synonyms

Lrrc62

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

78551531-78602971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78556082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 822 (K822E)

Ref Sequence

ENSEMBL: ENSMUSP00000155111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]

AlphaFold

Q68FM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000088592
AA Change: K822E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: K822E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
LRR	78	101	9.96e-1	SMART
LRR	103	125	5.56e0	SMART
LRR	126	149	6.96e0	SMART
LRR	150	173	1.66e1	SMART
LRRCT	185	240	9.74e-2	SMART
FN3	293	371	4.56e0	SMART
transmembrane domain	397	419	N/A	INTRINSIC
low complexity region	583	598	N/A	INTRINSIC
low complexity region	633	647	N/A	INTRINSIC
low complexity region	686	696	N/A	INTRINSIC
low complexity region	754	768	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000229441
AA Change: K822E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230478

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,290,536 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,665,868 (GRCm39)	T291I	probably benign	Het
Adam34l	T	G	8: 44,080,125 (GRCm39)	H33P	possibly damaging	Het
Atp13a3	A	G	16: 30,157,439 (GRCm39)		probably null	Het
Atp2a1	C	T	7: 126,049,399 (GRCm39)	V548M	possibly damaging	Het
Bsn	G	A	9: 107,992,812 (GRCm39)	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,797,865 (GRCm39)	M425T	probably damaging	Het
Cdh23	A	G	10: 60,147,143 (GRCm39)	L2733S	probably damaging	Het
Chd3	C	T	11: 69,251,874 (GRCm39)		probably null	Het
Cimap1d	T	C	10: 79,475,811 (GRCm39)	N251S	probably benign	Het
Dock2	T	C	11: 34,260,448 (GRCm39)		probably benign	Het
Eps15l1	G	A	8: 73,112,240 (GRCm39)	S764L	probably benign	Het
Etl4	C	A	2: 20,806,348 (GRCm39)		probably benign	Het
Faap24	C	A	7: 35,092,376 (GRCm39)	K180N	probably damaging	Het
Fhod1	G	A	8: 106,057,862 (GRCm39)	R888W	probably damaging	Het
Fus	T	C	7: 127,581,009 (GRCm39)		probably benign	Het
Gm3453	T	C	14: 5,976,168 (GRCm38)	E201G	possibly damaging	Het
Gnpat	G	T	8: 125,597,644 (GRCm39)	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,217,019 (GRCm39)		probably benign	Het
Gsta1	A	T	9: 78,149,819 (GRCm39)	K211*	probably null	Het
Lct	G	T	1: 128,227,948 (GRCm39)	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,311,836 (GRCm39)	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,425,200 (GRCm39)		probably benign	Het
Mst1r	G	T	9: 107,785,403 (GRCm39)	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo6	G	A	9: 80,171,516 (GRCm39)	V506I	possibly damaging	Het
Nadk	A	C	4: 155,671,933 (GRCm39)	K271Q	probably benign	Het
Nbas	A	G	12: 13,412,542 (GRCm39)	R954G	probably benign	Het
Nbr1	T	A	11: 101,462,805 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,698 (GRCm39)	D587G	possibly damaging	Het
Oas1a	A	T	5: 121,043,727 (GRCm39)	F135Y	probably damaging	Het
Obscn	A	G	11: 58,885,339 (GRCm39)		probably benign	Het
Or4k42	T	G	2: 111,320,465 (GRCm39)	I13L	probably benign	Het
Parp14	G	A	16: 35,678,903 (GRCm39)	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494 (GRCm39)	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,173,237 (GRCm39)	S60P	probably benign	Het
Prp2	A	G	6: 132,576,788 (GRCm39)	N25S	unknown	Het
Ptprq	A	T	10: 107,503,321 (GRCm39)	F779Y	probably benign	Het
Rims2	C	T	15: 39,398,334 (GRCm39)	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619 (GRCm39)	S425*	probably null	Het
Rps21	T	A	2: 179,899,840 (GRCm39)	I59N	probably damaging	Het
Scn5a	A	T	9: 119,324,751 (GRCm39)	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,875,694 (GRCm39)	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,166,611 (GRCm39)	F15L	probably benign	Het
Snapc4	A	C	2: 26,260,847 (GRCm39)	N465K	probably benign	Het
Spata31f1a	C	T	4: 42,850,696 (GRCm39)	E487K	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taco1	A	G	11: 105,960,353 (GRCm39)	N98S	probably benign	Het
Tcea3	T	C	4: 135,985,299 (GRCm39)		probably null	Het
Thada	T	C	17: 84,751,456 (GRCm39)	S507G	probably benign	Het
Tmem132b	T	A	5: 125,864,611 (GRCm39)	C906S	probably damaging	Het
Trpm2	A	T	10: 77,765,112 (GRCm39)	I963N	possibly damaging	Het
Usp10	A	G	8: 120,673,825 (GRCm39)	T397A	probably benign	Het
Usp3	G	A	9: 66,449,832 (GRCm39)	R160*	probably null	Het
Utp15	T	C	13: 98,394,460 (GRCm39)	Y144C	probably damaging	Het
Xpc	G	A	6: 91,483,831 (GRCm39)	R172W	probably damaging	Het

Other mutations in Elfn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Elfn2	APN	15	78,556,618 (GRCm39)	missense	possibly damaging	0.88
IGL02165:Elfn2	APN	15	78,557,618 (GRCm39)	missense	probably benign	0.04
IGL03402:Elfn2	APN	15	78,557,670 (GRCm39)	missense	possibly damaging	0.50
R0083:Elfn2	UTSW	15	78,557,614 (GRCm39)	missense	probably damaging	1.00
R0441:Elfn2	UTSW	15	78,557,795 (GRCm39)	missense	probably benign	0.09
R0570:Elfn2	UTSW	15	78,557,434 (GRCm39)	missense	probably damaging	1.00
R1155:Elfn2	UTSW	15	78,557,344 (GRCm39)	missense	probably benign	0.03
R1670:Elfn2	UTSW	15	78,556,568 (GRCm39)	missense	probably benign	0.05
R2033:Elfn2	UTSW	15	78,556,096 (GRCm39)	missense	probably damaging	1.00
R2138:Elfn2	UTSW	15	78,558,238 (GRCm39)	missense	probably benign	0.05
R2167:Elfn2	UTSW	15	78,556,646 (GRCm39)	missense	probably benign	0.09
R2226:Elfn2	UTSW	15	78,558,443 (GRCm39)	missense	probably damaging	1.00
R2497:Elfn2	UTSW	15	78,558,464 (GRCm39)	missense	probably damaging	1.00
R5175:Elfn2	UTSW	15	78,558,073 (GRCm39)	missense	probably damaging	1.00
R5215:Elfn2	UTSW	15	78,558,401 (GRCm39)	missense	probably damaging	1.00
R5588:Elfn2	UTSW	15	78,558,076 (GRCm39)	missense	probably damaging	1.00
R7291:Elfn2	UTSW	15	78,557,183 (GRCm39)	missense	probably benign	0.21
R7760:Elfn2	UTSW	15	78,558,041 (GRCm39)	missense	probably benign	0.00
R7893:Elfn2	UTSW	15	78,557,368 (GRCm39)	missense	probably damaging	1.00
R8018:Elfn2	UTSW	15	78,557,968 (GRCm39)	missense	probably damaging	1.00
R8084:Elfn2	UTSW	15	78,556,660 (GRCm39)	missense	probably damaging	0.98
R8112:Elfn2	UTSW	15	78,557,635 (GRCm39)	missense	probably damaging	0.97
R8501:Elfn2	UTSW	15	78,558,500 (GRCm39)	missense	probably benign
R8717:Elfn2	UTSW	15	78,556,561 (GRCm39)	missense	probably benign	0.01
R8961:Elfn2	UTSW	15	78,557,378 (GRCm39)	missense	probably benign	0.00
R9001:Elfn2	UTSW	15	78,557,438 (GRCm39)	missense	probably benign	0.34

Posted On

2015-12-18