Mutagenetix > Incidental Mutations

Incidental Mutation 'R3551:Lrfn1'

268339

Institutional Source

Beutler Lab

Gene Symbol

Lrfn1

Ensembl Gene

ENSMUSG00000030600

Gene Name

leucine rich repeat and fibronectin type III domain containing 1

Synonyms

SALM2

MMRRC Submission

040668-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R3551 (G1)

Quality Score

115

Status

Not validated

Chromosome

Chromosomal Location

28451980-28468242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28460054 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 466 (L466P)

Ref Sequence

ENSEMBL: ENSMUSP00000139609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000055110] [ENSMUST00000108288] [ENSMUST00000189877] [ENSMUST00000190954]

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

possibly damaging
Transcript: ENSMUST00000055110
AA Change: L466P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
AA Change: L466P

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

possibly damaging
Transcript: ENSMUST00000108288
AA Change: L466P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: L466P

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

possibly damaging
Transcript: ENSMUST00000189877
AA Change: L466P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
AA Change: L466P

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 benign
Transcript: ENSMUST00000190954

SMART Domains

Protein: ENSMUSP00000140537
Gene: ENSMUSG00000030600

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Blast:LRRNT	33	69	2e-18	BLAST
LRR	88	111	3.7e-3	SMART
LRR	112	135	1.9e-2	SMART
LRR_TYP	136	159	7.1e-6	SMART
LRR	161	184	1.1e-1	SMART
LRR	185	208	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191267

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,633,103	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	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
IGL01622:Lrfn1	APN	7	28466686	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
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
R8378:Lrfn1	UTSW	7	28459732	missense	probably benign	0.26
Z1176:Lrfn1	UTSW	7	28459115	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CACTGAACCTGGTTCTTCTGACATC -3'
(R):5'- CTGCACTGGCTCATGCTAAG -3'

Sequencing Primer
(F):5'- TTCTGACATCGCCACACCAGG -3'
(R):5'- CTGGAACTAAGCAAGGTC -3'

Posted On

2015-02-19