Mutagenetix > Incidental Mutation

Incidental Mutation 'R9134:Lrrc41'

693825

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 #

R9134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115932466-115954240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115945782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 166 (Q166K)

Ref Sequence

ENSEMBL: ENSMUSP00000030471 (fasta)

Gene Model

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

AlphaFold

Q8K1C9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030471
AA Change: Q166K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703
AA Change: Q166K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1m1	A	G	8: 72,993,913 (GRCm39)		probably benign	Het
Arhgdia	A	T	11: 120,470,392 (GRCm39)	I122N	probably damaging	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Atad5	G	A	11: 80,023,931 (GRCm39)	R1681K	probably benign	Het
Bpifb9b	T	C	2: 154,151,441 (GRCm39)	V54A	probably benign	Het
Cby3	A	C	11: 50,250,153 (GRCm39)	T25P	probably damaging	Het
Ccdc138	T	G	10: 58,374,102 (GRCm39)	L374R	probably damaging	Het
Cd84	T	A	1: 171,679,413 (GRCm39)	N30K	probably damaging	Het
Cdk20	T	A	13: 64,580,906 (GRCm39)		probably null	Het
Chd9	A	G	8: 91,659,754 (GRCm39)	H238R	unknown	Het
Cplane1	T	C	15: 8,228,716 (GRCm39)	V929A	probably damaging	Het
Csl	T	A	10: 99,594,237 (GRCm39)	H276L	probably damaging	Het
Dchs1	A	G	7: 105,404,910 (GRCm39)	L2544P	probably damaging	Het
Dnah17	T	C	11: 117,978,972 (GRCm39)	T1807A	probably damaging	Het
Dph7	C	T	2: 24,861,720 (GRCm39)	H378Y	probably benign	Het
Enkur	T	C	2: 21,185,779 (GRCm39)	I249V	probably benign	Het
Fam117a	C	A	11: 95,271,745 (GRCm39)	S439*	probably null	Het
Fam184a	T	G	10: 53,573,344 (GRCm39)	K345N	probably damaging	Het
Fam228a	T	C	12: 4,765,686 (GRCm39)	R255G	probably benign	Het
Fpr-rs7	A	T	17: 20,334,325 (GRCm39)	M55K	probably damaging	Het
Frem2	A	G	3: 53,562,321 (GRCm39)	Y729H	probably damaging	Het
Herc2	A	G	7: 55,832,177 (GRCm39)	T2989A	probably damaging	Het
Hspb8	A	G	5: 116,547,547 (GRCm39)	L145P	probably damaging	Het
Iars1	T	A	13: 49,855,323 (GRCm39)	V250E	probably benign	Het
Ide	G	T	19: 37,273,561 (GRCm39)		probably benign	Het
Ino80c	T	C	18: 24,254,765 (GRCm39)	S32G	probably benign	Het
Insr	G	A	8: 3,308,413 (GRCm39)	R208W	probably damaging	Het
Ints1	G	A	5: 139,743,351 (GRCm39)	R1674W	probably benign	Het
Itsn1	G	A	16: 91,666,514 (GRCm39)	V1153M	unknown	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrriq3	T	C	3: 154,820,183 (GRCm39)		probably null	Het
Mndal	T	C	1: 173,699,096 (GRCm39)	I190V	unknown	Het
Nisch	TCTGCTGC	TCTGCTGCTGC	14: 30,896,637 (GRCm39)		probably benign	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or14c39	C	A	7: 86,344,588 (GRCm39)	S308*	probably null	Het
Or3a1	A	G	11: 74,225,670 (GRCm39)	I129T	probably damaging	Het
Or5b114-ps1	G	T	19: 13,352,613 (GRCm39)	A96S	probably damaging	Het
Pcmt1	A	T	10: 7,520,207 (GRCm39)		probably benign	Het
Pde4c	G	T	8: 71,201,160 (GRCm39)	V493F	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pira13	T	C	7: 3,825,182 (GRCm39)	S487G		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prr23a1	T	C	9: 98,724,935 (GRCm39)	L99P		Het
Rex2	C	G	4: 147,142,643 (GRCm39)	T377S	probably benign	Het
Robo2	A	G	16: 73,703,738 (GRCm39)	F50L		Het
Srgap1	A	G	10: 121,883,127 (GRCm39)		probably benign	Het
Syt3	A	G	7: 44,042,791 (GRCm39)	N358D	possibly damaging	Het
Tfec	T	A	6: 16,835,326 (GRCm39)	T151S	probably damaging	Het
Tll1	A	T	8: 64,469,201 (GRCm39)	I974N	possibly damaging	Het
Tmc2	T	C	2: 130,074,321 (GRCm39)	V338A	probably benign	Het
Trappc6b	T	A	12: 59,097,160 (GRCm39)	D54V	probably damaging	Het
Trav6-2	T	A	14: 52,905,109 (GRCm39)	C43*	probably null	Het
Ubr4	T	A	4: 139,127,755 (GRCm39)		probably null	Het
Vmn1r2	T	A	4: 3,172,884 (GRCm39)	W268R	probably damaging	Het
Vmn2r120	A	G	17: 57,832,093 (GRCm39)	L232S	probably damaging	Het
Vps26b	T	C	9: 26,921,225 (GRCm39)	T325A	probably benign	Het
Vwa3a	T	C	7: 120,377,659 (GRCm39)	V438A	probably damaging	Het
Wdcp	C	A	12: 4,901,533 (GRCm39)	S463*	probably null	Het
Xkr4	C	T	1: 3,740,860 (GRCm39)	G238S	probably benign	Het
Zranb1	A	G	7: 132,551,886 (GRCm39)	N179S	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
R9495:Lrrc41	UTSW	4	115,932,806 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGGCATTTGACAAATTTCTGG -3'
(R):5'- CCAGCACTCATGGTAAGAATAAG -3'

Sequencing Primer
(F):5'- GCATTTGACAAATTTCTGGTGTTTTC -3'
(R):5'- TAACAGCCCCATGGTGGATG -3'

Posted On

2022-01-20