Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Lrrc39'

395752

Institutional Source

Beutler Lab

Gene Symbol

Lrrc39

Ensembl Gene

ENSMUSG00000027961

Gene Name

leucine rich repeat containing 39

Synonyms

2010005E21Rik, Myomasp, 9430028I06Rik

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116356622-116376783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116373189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 283 (E283V)

Ref Sequence

ENSEMBL: ENSMUSP00000029573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029573] [ENSMUST00000041524] [ENSMUST00000183638] [ENSMUST00000184963]

AlphaFold

Q8BGI7

Predicted Effect

probably benign
Transcript: ENSMUST00000029573
AA Change: E283V

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029573
Gene: ENSMUSG00000027961
AA Change: E283V

Domain	Start	End	E-Value	Type
LRR	105	127	1.15e1	SMART
LRR_TYP	128	151	7.26e-3	SMART
LRR	175	197	6.58e0	SMART
LRR	198	220	1e1	SMART
LRR	221	243	7.16e0	SMART
LRR	244	267	6.58e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041524

SMART Domains

Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	17	45	7.2e-17	PFAM
Pfam:zf-U11-48K	56	80	3.4e-12	PFAM
Pfam:TRM13	165	469	7e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156161

Predicted Effect

probably benign
Transcript: ENSMUST00000183638

SMART Domains

Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	1.4e-17	PFAM
Pfam:zf-U11-48K	55	81	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184963

SMART Domains

Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	2.9e-17	PFAM
Pfam:zf-U11-48K	55	81	2.3e-12	PFAM
Pfam:TRM13	165	285	3.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199439

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,963,559 (GRCm39)	I72V	probably benign	Het
Aadacl3	G	A	4: 144,182,640 (GRCm39)	P276L	possibly damaging	Het
Acp6	T	A	3: 97,075,305 (GRCm39)	S180T	probably benign	Het
Adgrd1	A	T	5: 129,221,053 (GRCm39)	R449*	probably null	Het
Ak1	T	C	2: 32,523,460 (GRCm39)	V176A	probably damaging	Het
Capzb	A	T	4: 139,015,125 (GRCm39)	D226V	possibly damaging	Het
Cd34	A	T	1: 194,630,338 (GRCm39)		probably benign	Het
Cdh15	C	A	8: 123,591,087 (GRCm39)	D445E	possibly damaging	Het
Chil4	A	G	3: 106,109,913 (GRCm39)	F367L	probably damaging	Het
Clstn2	T	C	9: 97,365,132 (GRCm39)	Y458C	probably damaging	Het
Cplane2	A	G	4: 140,944,696 (GRCm39)	I82M	probably benign	Het
Ctsw	T	C	19: 5,518,486 (GRCm39)	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,706,255 (GRCm39)	D50G	probably benign	Het
Dnah14	A	G	1: 181,584,799 (GRCm39)	K3177E	probably benign	Het
Ehd1	T	C	19: 6,327,251 (GRCm39)	F83L	probably benign	Het
Eif5a2	G	A	3: 28,836,886 (GRCm39)	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,751,238 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,975,066 (GRCm39)	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984 (GRCm39)	G493D	probably damaging	Het
Gm11596	C	T	11: 99,683,698 (GRCm39)	G141R	unknown	Het
Gpi-ps	T	G	8: 5,690,130 (GRCm39)		noncoding transcript	Het
H2-Q4	T	C	17: 35,599,417 (GRCm39)	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,382,490 (GRCm39)		probably null	Het
Kif2c	A	T	4: 117,032,066 (GRCm39)		probably benign	Het
Klrb1-ps1	C	T	6: 129,096,751 (GRCm39)		noncoding transcript	Het
Krtap9-5	A	T	11: 99,840,294 (GRCm39)	T332S	unknown	Het
Mdga1	A	G	17: 30,069,528 (GRCm39)	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,202,710 (GRCm39)	V425M	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Muc3a	T	A	5: 137,244,997 (GRCm39)	T159S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,642 (GRCm39)	I295F	probably damaging	Het
Or4a79	T	A	2: 89,551,745 (GRCm39)	T237S	probably damaging	Het
Or4f6	A	T	2: 111,838,937 (GRCm39)	M198K	probably damaging	Het
Pcdhga4	G	A	18: 37,818,648 (GRCm39)	V66I	probably benign	Het
Pdhx	T	C	2: 102,871,422 (GRCm39)	T203A	probably damaging	Het
Pdss1	A	G	2: 22,789,929 (GRCm39)		probably null	Het
Pdxk	G	T	10: 78,286,141 (GRCm39)	Q103K	probably benign	Het
Peg3	A	G	7: 6,711,419 (GRCm39)	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,187,093 (GRCm39)	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990 (GRCm39)		probably benign	Het
Poc1b	C	T	10: 98,943,703 (GRCm39)	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,060,001 (GRCm39)	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,680 (GRCm39)	F189S	probably damaging	Het
Rbks	T	A	5: 31,807,795 (GRCm39)	Y99*	probably null	Het
Sh3rf2	G	T	18: 42,186,989 (GRCm39)	C36F	probably damaging	Het
Spock3	T	A	8: 63,798,889 (GRCm39)	N303K	probably damaging	Het
Tasor2	C	T	13: 3,626,357 (GRCm39)	V1198I	probably benign	Het
Tcaf2	T	C	6: 42,606,401 (GRCm39)	T518A	probably benign	Het
Tmem163	A	T	1: 127,428,013 (GRCm39)	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,097,094 (GRCm39)	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,199,280 (GRCm39)		noncoding transcript	Het
Unc5d	C	T	8: 29,184,704 (GRCm39)	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,346 (GRCm39)	M31L	probably benign	Het
Vrtn	C	A	12: 84,696,248 (GRCm39)	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,298,008 (GRCm39)	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,602,421 (GRCm39)	R458H	probably damaging	Het

Other mutations in Lrrc39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lrrc39	APN	3	116,364,630 (GRCm39)	splice site	probably benign
IGL01017:Lrrc39	APN	3	116,364,500 (GRCm39)	missense	probably benign	0.01
IGL01717:Lrrc39	APN	3	116,373,146 (GRCm39)	unclassified	probably benign
IGL01728:Lrrc39	APN	3	116,373,149 (GRCm39)	unclassified	probably benign
IGL02208:Lrrc39	APN	3	116,371,923 (GRCm39)	missense	probably damaging	1.00
IGL02801:Lrrc39	APN	3	116,371,995 (GRCm39)	missense	possibly damaging	0.89
R0279:Lrrc39	UTSW	3	116,371,952 (GRCm39)	missense	probably benign	0.19
R1351:Lrrc39	UTSW	3	116,359,469 (GRCm39)	missense	possibly damaging	0.51
R1436:Lrrc39	UTSW	3	116,373,293 (GRCm39)	splice site	probably null
R1641:Lrrc39	UTSW	3	116,364,562 (GRCm39)	missense	probably damaging	0.99
R1716:Lrrc39	UTSW	3	116,373,216 (GRCm39)	missense	probably benign	0.00
R2199:Lrrc39	UTSW	3	116,364,610 (GRCm39)	missense	probably damaging	0.97
R2410:Lrrc39	UTSW	3	116,374,899 (GRCm39)	missense	probably benign	0.02
R4696:Lrrc39	UTSW	3	116,363,769 (GRCm39)	missense	probably damaging	1.00
R4816:Lrrc39	UTSW	3	116,362,515 (GRCm39)	critical splice donor site	probably null
R6152:Lrrc39	UTSW	3	116,364,624 (GRCm39)	critical splice donor site	probably null
R7124:Lrrc39	UTSW	3	116,359,562 (GRCm39)	missense	probably benign
R8855:Lrrc39	UTSW	3	116,363,790 (GRCm39)	missense	probably damaging	1.00
R8866:Lrrc39	UTSW	3	116,363,790 (GRCm39)	missense	probably damaging	1.00
R8941:Lrrc39	UTSW	3	116,359,496 (GRCm39)	missense	probably damaging	0.98
R9480:Lrrc39	UTSW	3	116,359,475 (GRCm39)	missense	probably benign	0.03
X0028:Lrrc39	UTSW	3	116,359,520 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCCAGCAAGATAATCTGTTATC -3'
(R):5'- GCCAGAATGACCACCGTTTG -3'

Sequencing Primer
(F):5'- TGCACTTCTATGGCACCT -3'
(R):5'- GAATGACCACCGTTTGATAGAAAC -3'

Posted On

2016-06-21