Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01353:Elfn2'

75455

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: 0.057) question?

Stock #

IGL01353

Quality Score

Status

Chromosome

Chromosomal Location

78551531-78602971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78556618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 643 (A643V)

Ref Sequence

ENSEMBL: ENSMUSP00000155111 (fasta)

Gene Model

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

AlphaFold

Q68FM6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088592
AA Change: A643V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: A643V

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

possibly damaging
Transcript: ENSMUST00000229441
AA Change: A643V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,242,934 (GRCm39)	V1304E	possibly damaging	Het
Acr	T	C	15: 89,453,695 (GRCm39)	L78P	probably damaging	Het
Adamts12	T	C	15: 11,292,091 (GRCm39)		probably benign	Het
Adgrb2	T	C	4: 129,906,093 (GRCm39)	S872P	probably damaging	Het
Adhfe1	T	A	1: 9,637,088 (GRCm39)	N413K	probably benign	Het
Apoh	T	A	11: 108,288,211 (GRCm39)	C110S	probably damaging	Het
Arhgap11a	A	G	2: 113,663,869 (GRCm39)	F805L	probably damaging	Het
Bin3	C	T	14: 70,372,275 (GRCm39)	L191F	possibly damaging	Het
Col3a1	A	G	1: 45,372,798 (GRCm39)		probably benign	Het
Dapp1	T	C	3: 137,667,241 (GRCm39)	K107R	probably benign	Het
Dnah5	T	C	15: 28,233,418 (GRCm39)	V259A	probably benign	Het
Dnah6	T	C	6: 73,150,439 (GRCm39)	M775V	probably benign	Het
Dnah9	A	G	11: 65,971,397 (GRCm39)	L1597P	probably damaging	Het
Epha6	T	C	16: 60,245,258 (GRCm39)	T314A	probably damaging	Het
Fn1	C	A	1: 71,626,098 (GRCm39)	W2237L	probably damaging	Het
Foxp4	T	A	17: 48,199,078 (GRCm39)	D97V	probably damaging	Het
Kcnb2	C	A	1: 15,781,048 (GRCm39)	T640K	probably benign	Het
Lypd10	G	T	7: 24,413,662 (GRCm39)	S226I	probably damaging	Het
Miga2	G	A	2: 30,261,245 (GRCm39)		probably null	Het
Nacad	T	A	11: 6,550,530 (GRCm39)	Q887L	possibly damaging	Het
Or2m13	C	T	16: 19,226,333 (GRCm39)	M145I	probably benign	Het
Or4d1	T	C	11: 87,804,998 (GRCm39)	I245V	probably benign	Het
Or7e173	T	C	9: 19,938,343 (GRCm39)	N297S	probably damaging	Het
Or8k24	A	T	2: 86,216,365 (GRCm39)	Y132*	probably null	Het
Otub2	A	T	12: 103,370,581 (GRCm39)	M288L	probably benign	Het
Otud4	A	G	8: 80,391,650 (GRCm39)	S432G	probably benign	Het
Pcca	G	A	14: 122,820,029 (GRCm39)	V58I	probably damaging	Het
Pdpr	T	A	8: 111,847,910 (GRCm39)		probably null	Het
Pinx1	C	A	14: 64,103,564 (GRCm39)	Q48K	probably benign	Het
Pkd1l2	G	T	8: 117,784,182 (GRCm39)	S698R	probably benign	Het
Psg29	A	G	7: 16,938,938 (GRCm39)	R71G	possibly damaging	Het
Psmd3	T	A	11: 98,581,426 (GRCm39)	V271E	probably benign	Het
Smarcc1	A	G	9: 109,964,734 (GRCm39)	N97S	probably benign	Het
Sulf2	C	T	2: 165,929,015 (GRCm39)	G319S	probably damaging	Het
Tmem67	C	A	4: 12,079,895 (GRCm39)	C132F	probably damaging	Het
Ttll7	T	C	3: 146,667,474 (GRCm39)	L780P	probably damaging	Het
Vmn1r223	A	G	13: 23,433,426 (GRCm39)	T7A	unknown	Het
Vmn1r76	T	G	7: 11,664,737 (GRCm39)	H159P	probably damaging	Het
Vnn1	G	A	10: 23,776,738 (GRCm39)	C363Y	probably damaging	Het
Wdr64	T	G	1: 175,559,151 (GRCm39)	L305V	probably damaging	Het
Zkscan4	T	C	13: 21,668,518 (GRCm39)	L323P	probably damaging	Het
Zscan10	A	T	17: 23,828,574 (GRCm39)	H295L	probably damaging	Het

Other mutations in Elfn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Elfn2	APN	15	78,557,618 (GRCm39)	missense	probably benign	0.04
IGL02951:Elfn2	APN	15	78,556,082 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07