Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Lrrc41'

717143

Institutional Source

Beutler Lab

Gene Symbol

Lrrc41

Ensembl Gene

ENSMUSG00000028703

Gene Name

leucine rich repeat containing 41

Synonyms

MUF1, D630045E04Rik, D730026A16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R9495 (G1)

Quality Score

108.008

Status

Not validated

Chromosome

Chromosomal Location

115932466-115954240 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 115932806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030471] [ENSMUST00000050580] [ENSMUST00000078676]

AlphaFold

Q8K1C9

Predicted Effect

probably null
Transcript: ENSMUST00000030471

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703

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

probably benign
Transcript: ENSMUST00000050580

SMART Domains

Protein: ENSMUSP00000052395
Gene: ENSMUSG00000063882

Domain	Start	End	E-Value	Type
Pfam:UCR_hinge	15	54	1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078676

SMART Domains

Protein: ENSMUSP00000077744
Gene: ENSMUSG00000063882

Domain	Start	End	E-Value	Type
Pfam:UCR_hinge	25	89	2e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,842 (GRCm39)	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl2fm1	T	C	3: 59,840,114 (GRCm39)	I62T	possibly damaging	Het
Acp5	G	A	9: 22,038,483 (GRCm39)	Q273*	probably null	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,835,660 (GRCm39)	N468K	probably damaging	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Bphl	A	T	13: 34,234,312 (GRCm39)	I143L	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cemip2	T	A	19: 21,779,249 (GRCm39)	V353D	probably damaging	Het
Cfap96	C	T	8: 46,409,458 (GRCm39)	S287N	probably damaging	Het
Colec10	A	G	15: 54,325,761 (GRCm39)	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,433,795 (GRCm39)	M759T	probably benign	Het
Ctc1	A	G	11: 68,913,593 (GRCm39)	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,345,208 (GRCm39)	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Erv3	C	A	2: 131,697,975 (GRCm39)	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fbn1	A	T	2: 125,160,984 (GRCm39)	N2185K	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Gemin4	A	G	11: 76,101,749 (GRCm39)	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,500,646 (GRCm39)	T124A	unknown	Het
Gm17669	G	T	18: 67,695,682 (GRCm39)	V76L	probably benign	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hcls1	A	T	16: 36,777,702 (GRCm39)	M274L	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mix23	A	G	16: 35,892,491 (GRCm39)	E12G	probably benign	Het
Muc6	T	A	7: 141,237,398 (GRCm39)	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 19,760,462 (GRCm39)	K624N	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4d2	C	T	11: 87,784,082 (GRCm39)	V223M	probably benign	Het
Or6e1	T	C	14: 54,520,137 (GRCm39)	T72A	probably damaging	Het
Otud4	T	C	8: 80,400,087 (GRCm39)	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pdc	T	C	1: 150,208,919 (GRCm39)	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkn1	C	T	8: 84,410,799 (GRCm39)	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Podn	C	T	4: 107,876,106 (GRCm39)	V517I	probably benign	Het
Pomk	T	C	8: 26,473,344 (GRCm39)	D203G	probably damaging	Het
Ppil4	A	G	10: 7,675,355 (GRCm39)	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,354,647 (GRCm39)	I276T	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Rbm12	G	T	2: 155,939,738 (GRCm39)	T178K	unknown	Het
Sctr	T	C	1: 119,959,403 (GRCm39)		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,066,744 (GRCm39)		probably benign	Het
Spata31e4	T	A	13: 50,855,465 (GRCm39)	S368T	possibly damaging	Het
Steap1	A	T	5: 5,786,458 (GRCm39)	D326E	probably damaging	Het
Stra6	G	A	9: 58,059,175 (GRCm39)	V513I	probably benign	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tcea3	T	A	4: 135,991,885 (GRCm39)	C190S	probably damaging	Het
Tfr2	G	A	5: 137,572,701 (GRCm39)	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tmem87b	T	C	2: 128,660,353 (GRCm39)	L32P	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Ulbp1	C	A	10: 7,406,371 (GRCm39)	M196I	probably benign	Het
Vash1	G	A	12: 86,738,663 (GRCm39)	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Vta1	A	G	10: 14,531,583 (GRCm39)	I264T	probably benign	Het
Zcchc8	A	T	5: 123,838,633 (GRCm39)	M635K	probably benign	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
R6459:Lrrc41	UTSW	4	115,945,977 (GRCm39)	missense	possibly damaging	0.95
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

Predicted Primers

PCR Primer
(F):5'- CTGACCTCTTCAAGATGGCG -3'
(R):5'- GAGAATCCTCCGTTCAGTCC -3'

Sequencing Primer
(F):5'- GTGTCATTCTCGGGCTCGC -3'
(R):5'- AGTGTCAGTTCCGAGCCTG -3'

Posted On

2022-07-18