Mutagenetix > Incidental Mutation

Incidental Mutation 'R1748:Lrrc73'

194160

Institutional Source

Beutler Lab

Gene Symbol

Lrrc73

Ensembl Gene

ENSMUSG00000071073

Gene Name

leucine rich repeat containing 73

Synonyms

LOC224813, Gm88

MMRRC Submission

039780-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R1748 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

46564896-46568242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46566621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 157 (I157N)

Ref Sequence

ENSEMBL: ENSMUSP00000092896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000164342] [ENSMUST00000225080] [ENSMUST00000180283] [ENSMUST00000225413]

AlphaFold

B2RWC4

Predicted Effect

probably benign
Transcript: ENSMUST00000012440

SMART Domains

Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SCOP:d1fxkc_	28	158	6e-3	SMART
low complexity region	204	215	N/A	INTRINSIC
Pfam:Pilt	256	450	3.7e-83	PFAM
Pfam:Pilt	441	538	5.4e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095262
AA Change: I157N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073
AA Change: I157N

Domain	Start	End	E-Value	Type
LRR	27	54	2.42e1	SMART
LRR	84	111	3.47e1	SMART
LRR	112	139	1.84e0	SMART
LRR	143	171	1.66e2	SMART
LRR	172	199	5.41e0	SMART
LRR	200	227	3.54e0	SMART
LRR	229	256	5.48e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095263

SMART Domains

Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
low complexity region	59	75	N/A	INTRINSIC
transmembrane domain	146	168	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	272	294	N/A	INTRINSIC
low complexity region	320	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123311

SMART Domains

Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127378

SMART Domains

Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
Pfam:Yip1	30	178	4.6e-13	PFAM
low complexity region	189	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151488

Predicted Effect

probably benign
Transcript: ENSMUST00000164342

SMART Domains

Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SCOP:d1fxkc_	28	158	6e-3	SMART
low complexity region	204	215	N/A	INTRINSIC
Pfam:Pilt	262	447	1.5e-59	PFAM
Pfam:Pilt	442	538	1.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225080

Predicted Effect

probably benign
Transcript: ENSMUST00000180283

SMART Domains

Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SCOP:d1fxkc_	28	158	6e-3	SMART
low complexity region	204	215	N/A	INTRINSIC
Pfam:Pilt	256	450	3.7e-83	PFAM
Pfam:Pilt	441	538	5.4e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224404

Predicted Effect

probably benign
Transcript: ENSMUST00000225413

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,152,338 (GRCm39)	Q1403K	probably benign	Het
Adamts12	G	A	15: 11,241,548 (GRCm39)	M373I	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aire	T	C	10: 77,879,314 (GRCm39)	H15R	probably damaging	Het
Aldh3b2	T	C	19: 4,027,572 (GRCm39)	F38L	probably damaging	Het
Alk	A	C	17: 72,910,416 (GRCm39)	C97G	probably benign	Het
Ano8	T	C	8: 71,931,602 (GRCm39)		probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arsk	T	A	13: 76,210,529 (GRCm39)	H506L	probably benign	Het
Asgr2	G	T	11: 69,987,658 (GRCm39)	R52L	probably damaging	Het
Atp2a1	A	G	7: 126,058,780 (GRCm39)	I145T	possibly damaging	Het
Atrnl1	A	G	19: 57,703,134 (GRCm39)	T1051A	probably damaging	Het
Cacna1e	A	T	1: 154,362,315 (GRCm39)	V424D	possibly damaging	Het
Capn3	T	C	2: 120,327,494 (GRCm39)	V574A	probably benign	Het
Capzb	C	A	4: 138,984,679 (GRCm39)	D67E	probably damaging	Het
Ccdc68	A	T	18: 70,089,062 (GRCm39)	T202S	probably benign	Het
Ccser2	T	C	14: 36,618,270 (GRCm39)	K123R	probably damaging	Het
Ccser2	T	A	14: 36,618,271 (GRCm39)	K123*	probably null	Het
Ces2h	T	C	8: 105,744,473 (GRCm39)	I316T	probably benign	Het
Chd3	T	G	11: 69,255,523 (GRCm39)	K122Q	possibly damaging	Het
Col12a1	T	C	9: 79,580,279 (GRCm39)	T1533A	probably benign	Het
Cr2	T	A	1: 194,838,213 (GRCm39)	K1084*	probably null	Het
Ddx28	A	G	8: 106,737,314 (GRCm39)	L248P	probably benign	Het
Depdc5	A	G	5: 33,075,286 (GRCm39)	E488G	probably benign	Het
Dld	T	C	12: 31,384,745 (GRCm39)	T305A	probably benign	Het
Dok5	T	A	2: 170,683,373 (GRCm39)	F211L	probably damaging	Het
Duox2	T	C	2: 122,117,532 (GRCm39)	D934G	probably benign	Het
Eif3a	G	A	19: 60,755,236 (GRCm39)	T982I	unknown	Het
Erbb2	G	T	11: 98,326,161 (GRCm39)	R979L	probably benign	Het
Espl1	G	T	15: 102,206,964 (GRCm39)	V143L	possibly damaging	Het
Fanci	T	C	7: 79,080,236 (GRCm39)	L598P	probably damaging	Het
Fat2	T	A	11: 55,147,473 (GRCm39)	E3923V	probably damaging	Het
Fhod3	A	T	18: 24,903,550 (GRCm39)	K95*	probably null	Het
Gpr108	G	T	17: 57,543,217 (GRCm39)	T484K	probably damaging	Het
Hao1	T	A	2: 134,340,238 (GRCm39)	N351I	possibly damaging	Het
Hepacam	A	T	9: 37,295,189 (GRCm39)	N308I	possibly damaging	Het
Herc2	T	C	7: 55,798,571 (GRCm39)		probably null	Het
Hltf	T	C	3: 20,130,685 (GRCm39)	I301T	probably benign	Het
Igsf10	A	T	3: 59,226,514 (GRCm39)	N2386K	probably damaging	Het
Ikbke	G	T	1: 131,186,937 (GRCm39)	T585K	probably benign	Het
Iqgap3	A	G	3: 88,021,287 (GRCm39)	T448A	possibly damaging	Het
Kl	T	C	5: 150,904,450 (GRCm39)	S401P	possibly damaging	Het
Lama4	T	C	10: 38,941,615 (GRCm39)	V684A	probably benign	Het
Lgals8	A	T	13: 12,469,824 (GRCm39)	F45Y	probably damaging	Het
Lgalsl	G	A	11: 20,776,491 (GRCm39)	R134C	probably benign	Het
Lmcd1	T	C	6: 112,306,875 (GRCm39)	V349A	probably benign	Het
Lrp1b	T	A	2: 41,618,718 (GRCm39)	N119Y	possibly damaging	Het
Map3k8	A	G	18: 4,334,766 (GRCm39)	Y293H	probably damaging	Het
Mybphl	A	T	3: 108,282,400 (GRCm39)		probably null	Het
Naa12	T	C	18: 80,255,161 (GRCm39)	S152P	probably benign	Het
Ndrg1	A	G	15: 66,802,930 (GRCm39)	M140T	possibly damaging	Het
Or2n1e	T	A	17: 38,585,997 (GRCm39)	C112S	possibly damaging	Het
Or8b38	A	G	9: 37,972,796 (GRCm39)	Y60C	probably damaging	Het
Pbx2	T	C	17: 34,812,951 (GRCm39)	S76P	possibly damaging	Het
Plcl2	T	A	17: 50,913,826 (GRCm39)	S278R	probably benign	Het
Polr3d	A	T	14: 70,676,915 (GRCm39)	L393*	probably null	Het
Prmt6	T	C	3: 110,157,683 (GRCm39)	Q202R	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sag	T	A	1: 87,759,662 (GRCm39)	I300N	probably damaging	Het
Sap25	T	A	5: 137,640,180 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,695 (GRCm39)	L177P	probably damaging	Het
Sh3pxd2b	A	T	11: 32,372,203 (GRCm39)	N457Y	possibly damaging	Het
Siae	T	A	9: 37,542,902 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,119,150 (GRCm39)	L375P	probably damaging	Het
Smg8	A	G	11: 86,976,594 (GRCm39)	V329A	probably damaging	Het
Tas2r113	A	T	6: 132,870,695 (GRCm39)	Y241F	probably damaging	Het
Tm9sf3	T	G	19: 41,244,668 (GRCm39)	S70R	probably benign	Het
Tmem144	C	T	3: 79,732,594 (GRCm39)	S228N	probably damaging	Het
Tmem45a	C	A	16: 56,642,701 (GRCm39)	V157F	possibly damaging	Het
Tpbg	G	T	9: 85,726,429 (GRCm39)	V133L	probably damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Ube2c	T	C	2: 164,613,241 (GRCm39)	F53S	probably damaging	Het
Vmn1r78	T	A	7: 11,887,250 (GRCm39)	V287D	probably damaging	Het
Vmn2r114	T	A	17: 23,527,035 (GRCm39)	D499V	probably benign	Het
Zpld2	C	G	4: 133,927,610 (GRCm39)	C381S	probably damaging	Het
Zpld2	T	A	4: 133,929,430 (GRCm39)	T292S	possibly damaging	Het

Other mutations in Lrrc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Lrrc73	APN	17	46,566,657 (GRCm39)	missense	possibly damaging	0.95
IGL02499:Lrrc73	APN	17	46,567,915 (GRCm39)	unclassified	probably benign
R1643:Lrrc73	UTSW	17	46,566,266 (GRCm39)	critical splice donor site	probably null
R7164:Lrrc73	UTSW	17	46,567,169 (GRCm39)	missense	probably damaging	1.00
R7238:Lrrc73	UTSW	17	46,565,488 (GRCm39)	missense	probably damaging	1.00
R7432:Lrrc73	UTSW	17	46,566,709 (GRCm39)	critical splice donor site	probably null
R8859:Lrrc73	UTSW	17	46,565,455 (GRCm39)	missense	probably benign	0.11
R9035:Lrrc73	UTSW	17	46,565,293 (GRCm39)	missense	probably damaging	0.98
R9177:Lrrc73	UTSW	17	46,565,535 (GRCm39)	missense	probably benign	0.01
R9268:Lrrc73	UTSW	17	46,565,535 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGAGTGCATGGGCTAGTGTGAC -3'
(R):5'- CTATTGGGTAGGGCAGCAGTGAAC -3'

Sequencing Primer
(F):5'- GTGCAGTAAGAATGCCTTTTTACCC -3'
(R):5'- ccagggctacacagagaaac -3'

Posted On

2014-05-23