Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Lrrc38'

85722

Institutional Source

Beutler Lab

Gene Symbol

Lrrc38

Ensembl Gene

ENSMUSG00000028584

Gene Name

leucine rich repeat containing 38

Synonyms

A230053A07Rik

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1078 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

143076327-143097602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143077088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 117 (Y117C)

Ref Sequence

ENSEMBL: ENSMUSP00000053597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052458]

AlphaFold

A2VDH3

Predicted Effect

probably benign
Transcript: ENSMUST00000052458
AA Change: Y117C

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053597
Gene: ENSMUSG00000028584
AA Change: Y117C

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
LRRNT	31	64	2.82e-4	SMART
LRR	84	106	1.37e1	SMART
LRR	108	130	5.26e0	SMART
LRR	132	154	2.27e1	SMART
LRR	155	178	8.09e-1	SMART
LRRCT	190	244	8.63e-6	SMART
transmembrane domain	252	274	N/A	INTRINSIC
low complexity region	288	298	N/A	INTRINSIC

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	T	C	5: 66,145,698 (GRCm39)	T138A	unknown	Het
Abi3bp	T	C	16: 56,474,444 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,728,348 (GRCm39)	M493L	probably benign	Het
Bace2	C	T	16: 97,158,060 (GRCm39)	A20V	unknown	Het
Bms1	T	C	6: 118,382,182 (GRCm39)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,184,389 (GRCm39)	T3A	probably damaging	Het
Ctu2	T	C	8: 123,208,238 (GRCm39)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,534,966 (GRCm39)	K60E	probably benign	Het
Cyp4f13	T	C	17: 33,144,542 (GRCm39)	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,637,023 (GRCm39)	T485M	probably damaging	Het
Dsp	C	T	13: 38,367,082 (GRCm39)		probably benign	Het
Ell2	T	C	13: 75,894,538 (GRCm39)		probably benign	Het
Eml2	A	T	7: 18,913,687 (GRCm39)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,950,939 (GRCm39)	R547S	probably benign	Het
Ep400	C	T	5: 110,883,388 (GRCm39)		probably benign	Het
Ercc4	C	A	16: 12,948,061 (GRCm39)	A336D	probably benign	Het
Fat4	T	C	3: 39,037,235 (GRCm39)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm39)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,503,877 (GRCm39)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,746,508 (GRCm39)	P108L	probably damaging	Het
Hfm1	A	T	5: 107,026,696 (GRCm39)	F140I	probably damaging	Het
Hyal2	T	A	9: 107,449,445 (GRCm39)	H400Q	probably benign	Het
Igfn1	A	G	1: 135,902,585 (GRCm39)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,126,056 (GRCm39)	*180C	probably null	Het
Kdm2b	T	C	5: 123,099,604 (GRCm39)	T118A	possibly damaging	Het
Lama5	A	T	2: 179,821,557 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmo7	C	T	14: 102,157,910 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,388,457 (GRCm39)	P2323T	unknown	Het
Myo1e	T	C	9: 70,291,281 (GRCm39)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,612,637 (GRCm39)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,647,917 (GRCm39)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,451,690 (GRCm39)	H243R	probably damaging	Het
Or9g4b	T	C	2: 85,616,437 (GRCm39)	V194A	possibly damaging	Het
Pld4	A	T	12: 112,729,876 (GRCm39)	I53F	probably benign	Het
Plekhg4	T	A	8: 106,108,309 (GRCm39)	C1117*	probably null	Het
Prss39	G	A	1: 34,541,167 (GRCm39)	E224K	probably benign	Het
Psme1	G	T	14: 55,818,107 (GRCm39)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,561,762 (GRCm39)	I358S	probably benign	Het
Soat2	T	A	15: 102,061,573 (GRCm39)		probably null	Het
Stab2	C	T	10: 86,742,997 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,731,627 (GRCm39)	T127A	probably benign	Het
Tcp1	T	C	17: 13,142,091 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,899,434 (GRCm39)		probably benign	Het
Tmf1	T	C	6: 97,150,261 (GRCm39)	D482G	probably damaging	Het
Trim66	G	T	7: 109,071,526 (GRCm39)	P591H	probably damaging	Het
Umodl1	T	C	17: 31,178,347 (GRCm39)	S108P	probably benign	Het
Unc79	T	G	12: 103,041,112 (GRCm39)	M715R	probably benign	Het
Usp34	C	A	11: 23,383,175 (GRCm39)		probably benign	Het
Utrn	T	G	10: 12,331,310 (GRCm39)		probably null	Het
Zfp830	T	C	11: 82,656,165 (GRCm39)		probably null	Het

Other mutations in Lrrc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0281:Lrrc38	UTSW	4	143,076,979 (GRCm39)	missense	probably damaging	0.99
R0545:Lrrc38	UTSW	4	143,077,328 (GRCm39)	missense	probably benign	0.41
R1467:Lrrc38	UTSW	4	143,096,450 (GRCm39)	missense	probably damaging	1.00
R1467:Lrrc38	UTSW	4	143,096,450 (GRCm39)	missense	probably damaging	1.00
R1967:Lrrc38	UTSW	4	143,096,553 (GRCm39)	missense	unknown
R2221:Lrrc38	UTSW	4	143,096,419 (GRCm39)	nonsense	probably null
R2223:Lrrc38	UTSW	4	143,096,419 (GRCm39)	nonsense	probably null
R4061:Lrrc38	UTSW	4	143,077,076 (GRCm39)	missense	probably damaging	1.00
R4930:Lrrc38	UTSW	4	143,096,438 (GRCm39)	missense	probably damaging	0.98
R5585:Lrrc38	UTSW	4	143,076,961 (GRCm39)	missense	probably damaging	0.96
R6787:Lrrc38	UTSW	4	143,096,364 (GRCm39)	missense	probably benign	0.18
R7046:Lrrc38	UTSW	4	143,076,739 (GRCm39)	start codon destroyed	probably null
R7706:Lrrc38	UTSW	4	143,076,845 (GRCm39)	missense	probably damaging	1.00
R8189:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8190:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8192:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8219:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8221:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8223:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8226:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAATTCTGCGCCCAGCACCTC -3'
(R):5'- TGTTGTCGTTGAGTTCCAGCACC -3'

Sequencing Primer
(F):5'- GCACTCTCATcgccccc -3'
(R):5'- TGAGTTCCAGCACCTGCAAG -3'

Posted On

2013-11-18