Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01622:Lrfn1'

278621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrfn1

Ensembl Gene

ENSMUSG00000030600

Gene Name

leucine rich repeat and fibronectin type III domain containing 1

Synonyms

SALM2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

IGL01622

Quality Score

Status

Chromosome

Chromosomal Location

28451980-28468242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28466686 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 502 (T502A)

Ref Sequence

ENSEMBL: ENSMUSP00000103923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000055110] [ENSMUST00000108288] [ENSMUST00000189877]

Predicted Effect

probably benign
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055110

SMART Domains

Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
LRR	88	111	8.67e-1	SMART
LRR	112	135	4.57e0	SMART
LRR_TYP	136	159	1.69e-3	SMART
LRR	161	184	2.54e1	SMART
LRR	185	208	2.32e-1	SMART
LRR	209	233	3.75e0	SMART
LRRCT	252	297	1.36e-3	SMART
IGc2	312	377	1.51e-12	SMART
low complexity region	389	403	N/A	INTRINSIC
low complexity region	460	471	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108288
AA Change: T502A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: T502A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
LRR	88	111	8.67e-1	SMART
LRR	112	135	4.57e0	SMART
LRR_TYP	136	159	1.69e-3	SMART
LRR	161	184	2.54e1	SMART
LRR	185	208	2.32e-1	SMART
LRR	209	233	3.75e0	SMART
LRRCT	252	297	1.36e-3	SMART
IGc2	312	377	1.51e-12	SMART
low complexity region	389	403	N/A	INTRINSIC
FN3	422	502	2.68e-2	SMART
transmembrane domain	535	557	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC
low complexity region	609	625	N/A	INTRINSIC
low complexity region	716	725	N/A	INTRINSIC
low complexity region	730	747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189877

SMART Domains

Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
LRR	88	111	8.67e-1	SMART
LRR	112	135	4.57e0	SMART
LRR_TYP	136	159	1.69e-3	SMART
LRR	161	184	2.54e1	SMART
LRR	185	208	2.32e-1	SMART
LRR	209	233	3.75e0	SMART
LRRCT	252	297	1.36e-3	SMART
IGc2	312	377	1.51e-12	SMART
low complexity region	389	403	N/A	INTRINSIC
low complexity region	460	471	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,810,067	Q184*	probably null	Het
A1bg	A	C	15: 60,917,893	I502S	possibly damaging	Het
Actl11	T	C	9: 107,928,576	S33P	probably benign	Het
Aftph	G	T	11: 20,709,632	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,974,124		probably benign	Het
Brf1	T	G	12: 112,961,175	E643A	probably benign	Het
Caskin1	G	T	17: 24,503,940		probably null	Het
Ccnjl	T	C	11: 43,585,327	V259A	probably benign	Het
Ccser2	G	T	14: 36,940,963	T88K	probably benign	Het
Cdk17	T	C	10: 93,238,962		probably benign	Het
Clec16a	G	A	16: 10,577,910	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,391,271	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,819,548	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,975	V215A	possibly damaging	Het
Daxx	A	G	17: 33,913,480	D528G	probably benign	Het
Dnah6	T	C	6: 73,144,718	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,722,744	T228I	probably damaging	Het
Fam131c	C	T	4: 141,382,450	A131V	possibly damaging	Het
Fam71e2	A	G	7: 4,758,723	V330A	probably benign	Het
Fat1	A	G	8: 45,029,555	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,373,177	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,022,867	I514K	probably benign	Het
Ficd	G	A	5: 113,738,561	G266S	probably damaging	Het
Frem3	A	G	8: 80,613,915	T946A	probably benign	Het
Gan	T	A	8: 117,187,178	V105D	probably damaging	Het
Gramd1c	A	G	16: 43,990,698	V221A	probably damaging	Het
Hacd1	A	G	2: 14,035,856	V196A	probably benign	Het
Kcna6	C	A	6: 126,738,613	V438L	probably damaging	Het
Kif14	T	C	1: 136,497,356		probably benign	Het
Klhl41	T	C	2: 69,678,238	V512A	probably benign	Het
Notch3	A	T	17: 32,158,870	F105I	possibly damaging	Het
Olfr1023	A	T	2: 85,886,962	H54L	probably benign	Het
Olfr142	T	G	2: 90,252,609	K126N	probably damaging	Het
P3h1	C	T	4: 119,235,283	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,266,313	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,290,525	K225*	probably null	Het
Pik3c3	A	G	18: 30,293,049		probably benign	Het
Pik3r5	T	A	11: 68,486,626		probably null	Het
Pnpt1	A	C	11: 29,148,272		probably benign	Het
Ppp2r1b	T	A	9: 50,878,122	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,505,614		probably benign	Het
Sec14l2	G	A	11: 4,103,966	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,438,903	D1033E	probably benign	Het
Sept14	A	G	5: 129,685,955	V357A	probably damaging	Het
Sf3a3	C	T	4: 124,718,343	T131I	possibly damaging	Het
Snrpa	A	T	7: 27,192,970	M55K	probably benign	Het
Swt1	G	T	1: 151,411,009	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,192,074	T253A	probably benign	Het
Tst	G	T	15: 78,399,764	R288S	probably benign	Het
Vmn2r60	A	G	7: 42,136,486	I238V	probably benign	Het
Zbtb14	A	G	17: 69,388,189	K294R	probably benign	Het
Zfp710	T	A	7: 80,081,123	V16E	probably damaging	Het
Zfpm2	A	G	15: 41,101,924	T602A	probably benign	Het
Zfr2	G	A	10: 81,251,359	M850I	probably benign	Het

Other mutations in Lrfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Lrfn1	APN	7	28460017	missense	probably damaging	1.00
IGL01565:Lrfn1	APN	7	28458769	missense	probably damaging	1.00
IGL01623:Lrfn1	APN	7	28466686	missense	probably damaging	1.00
IGL02176:Lrfn1	APN	7	28458686	intron	probably benign
IGL02642:Lrfn1	APN	7	28458688	intron	probably benign
R1123:Lrfn1	UTSW	7	28467119	missense	possibly damaging	0.71
R1838:Lrfn1	UTSW	7	28459768	missense	probably damaging	0.98
R3000:Lrfn1	UTSW	7	28467407	missense	probably damaging	1.00
R3551:Lrfn1	UTSW	7	28460054	missense	possibly damaging	0.90
R3905:Lrfn1	UTSW	7	28466869	missense	possibly damaging	0.49
R4246:Lrfn1	UTSW	7	28459942	missense	probably benign	0.03
R5621:Lrfn1	UTSW	7	28466836	missense	probably damaging	1.00
R6267:Lrfn1	UTSW	7	28459744	missense	probably benign	0.01
R6902:Lrfn1	UTSW	7	28459813	missense	probably benign	0.10
R7059:Lrfn1	UTSW	7	28466930	missense	possibly damaging	0.65
R7073:Lrfn1	UTSW	7	28459972	missense	possibly damaging	0.94
R7208:Lrfn1	UTSW	7	28467139	missense	probably benign
R7402:Lrfn1	UTSW	7	28459522	missense	probably damaging	1.00
Z1176:Lrfn1	UTSW	7	28459115	missense	possibly damaging	0.66

Posted On

2015-04-16