Mutagenetix > Incidental Mutation

Incidental Mutation 'R4061:Lrrc38'

315851

Institutional Source

Beutler Lab

Gene Symbol

Lrrc38

Ensembl Gene

ENSMUSG00000028584

Gene Name

leucine rich repeat containing 38

Synonyms

A230053A07Rik

MMRRC Submission

040852-MU

Accession Numbers

Essential gene?

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

Stock #

R4061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143076327-143097602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143077076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 113 (L113Q)

Ref Sequence

ENSEMBL: ENSMUSP00000053597 (fasta)

Gene Model

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

AlphaFold

A2VDH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000052458
AA Change: L113Q

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

SMART Domains

Protein: ENSMUSP00000053597
Gene: ENSMUSG00000028584
AA Change: L113Q

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (51/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Adam25	A	G	8: 41,206,819 (GRCm39)	I28M	possibly damaging	Het
Anks1b	A	G	10: 90,143,484 (GRCm39)	S464G	probably damaging	Het
AU040320	T	A	4: 126,729,488 (GRCm39)	M550K	probably damaging	Het
Cab39l	A	G	14: 59,737,056 (GRCm39)	K59E	possibly damaging	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Csmd1	A	G	8: 15,995,158 (GRCm39)	S2626P	probably benign	Het
Ctss	C	T	3: 95,450,345 (GRCm39)	R99W	probably benign	Het
Deptor	A	T	15: 55,072,177 (GRCm39)	M219L	probably benign	Het
Disp1	A	G	1: 182,869,264 (GRCm39)	V1052A	probably damaging	Het
Esyt3	C	T	9: 99,202,891 (GRCm39)	S504N	probably damaging	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Folh1	T	A	7: 86,406,170 (GRCm39)	Y301F	possibly damaging	Het
Gm14443	G	A	2: 175,011,402 (GRCm39)	T348I	probably benign	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Iars2	A	T	1: 185,035,583 (GRCm39)	H552Q	possibly damaging	Het
Il18r1	G	A	1: 40,514,096 (GRCm39)	V101I	probably benign	Het
Impdh2	A	G	9: 108,440,003 (GRCm39)	R182G	possibly damaging	Het
Krt12	A	T	11: 99,306,841 (GRCm39)	M487K	unknown	Het
Lmln	C	A	16: 32,886,761 (GRCm39)	Y89*	probably null	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Muc5ac	A	G	7: 141,364,867 (GRCm39)	D1947G	possibly damaging	Het
Myh13	A	T	11: 67,221,715 (GRCm39)	I177F	possibly damaging	Het
Nfasc	T	C	1: 132,525,583 (GRCm39)	Y904C	probably damaging	Het
Obscn	G	A	11: 58,899,358 (GRCm39)	P1000S	probably damaging	Het
Or52n4	T	A	7: 104,293,680 (GRCm39)	K298*	probably null	Het
Or5t7	T	A	2: 86,507,162 (GRCm39)	I172F	probably damaging	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Pclo	A	G	5: 14,590,580 (GRCm39)	E960G	unknown	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,004,515 (GRCm39)		probably benign	Het
Prl7a1	T	C	13: 27,819,832 (GRCm39)	I141V	possibly damaging	Het
Ptpn18	A	T	1: 34,512,011 (GRCm39)	H45L	possibly damaging	Het
Sbno1	A	T	5: 124,526,635 (GRCm39)	M960K	probably damaging	Het
Slx4ip	T	A	2: 136,846,937 (GRCm39)	S67R	probably benign	Het
Spata18	A	G	5: 73,828,509 (GRCm39)	K243E	probably damaging	Het
Tcp1	A	G	17: 13,139,750 (GRCm39)	Q265R	probably benign	Het
Tec	C	T	5: 72,980,752 (GRCm39)		probably benign	Het
Thbs4	A	G	13: 92,912,605 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,549,177 (GRCm39)	Q635L	probably damaging	Het
Tshz2	A	G	2: 169,804,245 (GRCm39)		probably benign	Het
Uap1	T	C	1: 169,986,415 (GRCm39)	E189G	possibly damaging	Het
Usp21	G	A	1: 171,112,974 (GRCm39)		probably benign	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Vmn1r38	A	T	6: 66,753,832 (GRCm39)	C95S	possibly damaging	Het
Vmn2r12	A	T	5: 109,240,058 (GRCm39)	N168K	possibly damaging	Het
Vmn2r84	T	A	10: 130,221,898 (GRCm39)	E774V	probably damaging	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
R1078:Lrrc38	UTSW	4	143,077,088 (GRCm39)	missense	probably benign	0.06
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
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'- GTAGCCTCTTGGTGCTGCTC -3'
(R):5'- ATCCAAAGCCGCCACGTTG -3'

Sequencing Primer
(F):5'- ATACCGTGGACTGTCGCGATC -3'
(R):5'- ACGTTGAGGCTGCGCAG -3'

Posted On

2015-05-15