Mutagenetix > Incidental Mutation

Incidental Mutation 'R6459:Lrrc41'

517504

Institutional Source

Beutler Lab

Gene Symbol

Lrrc41

Ensembl Gene

ENSMUSG00000028703

Gene Name

leucine rich repeat containing 41

Synonyms

MUF1, D630045E04Rik, D730026A16Rik

MMRRC Submission

044594-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

R6459 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115932466-115954240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115945977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 231 (S231P)

Ref Sequence

ENSEMBL: ENSMUSP00000030471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030471]

AlphaFold

Q8K1C9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030471
AA Change: S231P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703
AA Change: S231P

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	280	291	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	352	382	N/A	INTRINSIC
low complexity region	417	429	N/A	INTRINSIC
SCOP:d1yrga_	449	742	4e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138952

Meta Mutation Damage Score

0.3424

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	C	A	11: 76,315,815 (GRCm39)	R583L	probably damaging	Het
Acss1	A	G	2: 150,509,840 (GRCm39)	I93T	probably damaging	Het
Ank3	C	T	10: 69,827,577 (GRCm39)		probably benign	Het
Aoah	A	G	13: 21,184,112 (GRCm39)	Y392C	probably damaging	Het
Atl3	A	T	19: 7,498,163 (GRCm39)	E186D	probably benign	Het
Atp4a	A	G	7: 30,411,887 (GRCm39)	K41E	probably benign	Het
Atp9a	G	A	2: 168,509,933 (GRCm39)	P500L	probably damaging	Het
Ccdc88b	A	T	19: 6,832,246 (GRCm39)	V363D	possibly damaging	Het
Cftr	T	C	6: 18,258,235 (GRCm39)	V532A	probably damaging	Het
Cldn13	T	C	5: 134,943,769 (GRCm39)	T139A	possibly damaging	Het
Cnksr3	T	C	10: 7,076,820 (GRCm39)	Y124C	probably benign	Het
Cyb5r2	T	C	7: 107,352,462 (GRCm39)	K161E	possibly damaging	Het
Epop	T	C	11: 97,519,333 (GRCm39)	S259G	possibly damaging	Het
Fhl2	G	A	1: 43,162,813 (GRCm39)	T234I	possibly damaging	Het
Fnip2	T	C	3: 79,388,941 (GRCm39)	T567A	possibly damaging	Het
Frmd4b	A	G	6: 97,464,601 (GRCm39)	C39R	probably damaging	Het
Grhl3	T	C	4: 135,284,744 (GRCm39)	N116S	possibly damaging	Het
Igkv14-111	A	T	6: 68,233,725 (GRCm39)	R75S	probably benign	Het
Il16	A	T	7: 83,371,529 (GRCm39)	D92E	probably damaging	Het
Il16	C	A	7: 83,371,536 (GRCm39)	G90V	probably damaging	Het
Ipo11	T	C	13: 107,002,277 (GRCm39)		probably null	Het
Kng2	A	G	16: 22,830,865 (GRCm39)	I148T	probably damaging	Het
Maneal	C	T	4: 124,750,635 (GRCm39)	V374I	possibly damaging	Het
Mgat4c	T	A	10: 102,220,988 (GRCm39)	L90Q	probably damaging	Het
Mrps28	A	G	3: 8,965,040 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 26,963,051 (GRCm39)	D452G	probably benign	Het
Nefh	T	C	11: 4,889,551 (GRCm39)	T1023A	unknown	Het
Nipa1	A	G	7: 55,629,354 (GRCm39)	V253A	probably benign	Het
Or5ac17	C	T	16: 59,036,383 (GRCm39)	V198M	probably benign	Het
Or5b97	G	T	19: 12,878,369 (GRCm39)	F258L	possibly damaging	Het
Or5m11	G	T	2: 85,781,862 (GRCm39)	G152C	probably damaging	Het
Or8d23	A	G	9: 38,841,961 (GRCm39)	S165G	probably benign	Het
Or8k41	T	A	2: 86,313,573 (GRCm39)	H171L	probably benign	Het
Pak1	A	G	7: 97,557,088 (GRCm39)	D495G	probably benign	Het
Pcm1	G	A	8: 41,714,073 (GRCm39)	R213H	probably damaging	Het
Prg4	T	C	1: 150,330,052 (GRCm39)		probably benign	Het
Proser1	C	T	3: 53,385,750 (GRCm39)	T544M	possibly damaging	Het
Rftn1	T	C	17: 50,354,334 (GRCm39)	M343V	probably benign	Het
Ryr1	T	C	7: 28,715,079 (GRCm39)	I4656V	probably benign	Het
Scg2	T	A	1: 79,414,007 (GRCm39)	N239Y	probably damaging	Het
Sec16a	C	A	2: 26,313,512 (GRCm39)	M1949I	probably benign	Het
Sipa1l2	A	G	8: 126,171,223 (GRCm39)		probably null	Het
Slc10a2	A	C	8: 5,148,581 (GRCm39)		probably null	Het
Slc25a16	C	T	10: 62,773,256 (GRCm39)	Q164*	probably null	Het
Specc1l	T	C	10: 75,082,001 (GRCm39)	Y483H	probably damaging	Het
Ston1	T	C	17: 88,943,896 (GRCm39)	V434A	probably benign	Het
Tarbp2	A	G	15: 102,426,914 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,969,925 (GRCm39)	V1022M	probably benign	Het
Tsen54	T	C	11: 115,712,506 (GRCm39)	V269A	probably damaging	Het
Vps13a	A	T	19: 16,641,382 (GRCm39)	M78K	possibly damaging	Het
Vwa5b2	A	G	16: 20,413,429 (GRCm39)	T215A	probably damaging	Het
Zc3h7a	A	G	16: 10,971,025 (GRCm39)	Y335H	probably damaging	Het
Zfp994	T	A	17: 22,419,527 (GRCm39)	Q474L	possibly damaging	Het

Other mutations in Lrrc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Lrrc41	APN	4	115,953,663 (GRCm39)	missense	probably damaging	0.97
IGL01358:Lrrc41	APN	4	115,932,784 (GRCm39)	missense	probably benign	0.16
IGL01734:Lrrc41	APN	4	115,950,331 (GRCm39)	critical splice donor site	probably null
IGL01986:Lrrc41	APN	4	115,946,519 (GRCm39)	missense	probably benign	0.27
IGL02159:Lrrc41	APN	4	115,945,683 (GRCm39)	missense	probably benign	0.03
IGL02892:Lrrc41	APN	4	115,946,032 (GRCm39)	missense	possibly damaging	0.68
IGL03135:Lrrc41	APN	4	115,945,728 (GRCm39)	missense	probably benign
R1478:Lrrc41	UTSW	4	115,952,405 (GRCm39)	nonsense	probably null
R1765:Lrrc41	UTSW	4	115,946,248 (GRCm39)	missense	possibly damaging	0.94
R2233:Lrrc41	UTSW	4	115,953,582 (GRCm39)	missense	possibly damaging	0.66
R4080:Lrrc41	UTSW	4	115,937,743 (GRCm39)	splice site	probably null
R4677:Lrrc41	UTSW	4	115,952,332 (GRCm39)	missense	probably benign
R4833:Lrrc41	UTSW	4	115,950,374 (GRCm39)	unclassified	probably benign
R4877:Lrrc41	UTSW	4	115,936,602 (GRCm39)	missense	probably damaging	0.99
R4926:Lrrc41	UTSW	4	115,946,521 (GRCm39)	missense	possibly damaging	0.46
R6817:Lrrc41	UTSW	4	115,946,502 (GRCm39)	missense	possibly damaging	0.66
R6834:Lrrc41	UTSW	4	115,953,726 (GRCm39)	missense	possibly damaging	0.46
R7479:Lrrc41	UTSW	4	115,946,238 (GRCm39)	missense	probably damaging	0.96
R7512:Lrrc41	UTSW	4	115,950,191 (GRCm39)	missense	possibly damaging	0.66
R7593:Lrrc41	UTSW	4	115,950,141 (GRCm39)	missense	possibly damaging	0.94
R8006:Lrrc41	UTSW	4	115,952,085 (GRCm39)	missense	possibly damaging	0.79
R8810:Lrrc41	UTSW	4	115,932,488 (GRCm39)	unclassified	probably benign
R9134:Lrrc41	UTSW	4	115,945,782 (GRCm39)	missense	possibly damaging	0.89
R9495:Lrrc41	UTSW	4	115,932,806 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTCCGACAGCTAACCATCTG -3'
(R):5'- ACATCGCTCTGCTGCATCAC -3'

Sequencing Primer
(F):5'- GCTAACCATCTGCAACATGCTG -3'
(R):5'- TCTGCTGCATCACGCCGAG -3'

Posted On

2018-05-21