Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Lrrc41'

616616

Institutional Source

Beutler Lab

Gene Symbol

Lrrc41

Ensembl Gene

ENSMUSG00000028703

Gene Name

leucine rich repeat containing 41

Synonyms

D730026A16Rik, MUF1, D630045E04Rik

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116075269-116097043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116094888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 585 (E585K)

Ref Sequence

ENSEMBL: ENSMUSP00000030471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030471] [ENSMUST00000102704] [ENSMUST00000102705]

AlphaFold

Q8K1C9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030471
AA Change: E585K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703
AA Change: E585K

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: ENSMUST00000102704

SMART Domains

Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702

Domain	Start	End	E-Value	Type
DEXDc	149	357	1.66e-41	SMART
Blast:DEXDc	391	427	5e-13	BLAST
low complexity region	441	456	N/A	INTRINSIC
HELICc	527	611	1.39e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102705

SMART Domains

Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702

Domain	Start	End	E-Value	Type
Pfam:Rad54_N	10	138	7.8e-9	PFAM
DEXDc	149	357	1.66e-41	SMART
Blast:DEXDc	391	427	5e-13	BLAST
low complexity region	441	456	N/A	INTRINSIC
HELICc	527	611	1.39e-20	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 40,795,907	H351Q	probably benign	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,579,696	S126P	probably damaging	Het
Akip1	A	G	7: 109,703,992	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,648,719	R287G		Het
Ankrd13a	A	C	5: 114,804,423	*589S	probably null	Het
Ankrd34c	T	C	9: 89,729,836	I151V	probably damaging	Het
Ano5	T	A	7: 51,593,770	D880E	probably benign	Het
Arl3	A	C	19: 46,558,374	L4R	probably damaging	Het
Ate1	T	A	7: 130,467,388	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr3	C	T	9: 108,829,107	P930S	probably damaging	Het
Cox18	C	T	5: 90,223,813	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,582,011	K176R	probably benign	Het
Fam135b	T	C	15: 71,462,334	T1004A	probably benign	Het
Fam227a	A	G	15: 79,634,098	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,995,876	I248V	probably benign	Het
Gm4788	A	G	1: 139,736,852	Y490H	probably damaging	Het
Gm5415	T	A	1: 32,546,924		probably benign	Het
Gm6871	T	C	7: 41,545,682	T544A	probably benign	Het
Grm6	A	T	11: 50,864,657	*872L	probably null	Het
Herc1	T	A	9: 66,445,560	Y2109*	probably null	Het
Hsd11b2	T	A	8: 105,519,103	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,665,496	V721A	possibly damaging	Het
Jade1	A	T	3: 41,613,689	I731L	probably benign	Het
Khnyn	G	A	14: 55,887,590	V434I	probably benign	Het
Lrp1	A	G	10: 127,589,619	L714P	probably damaging	Het
Lrrfip1	A	G	1: 91,076,951	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,537,086	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,984	R387C	probably damaging	Het
Mro	A	T	18: 73,877,506	D219V	possibly damaging	Het
Myot	T	A	18: 44,354,837	L407Q	probably damaging	Het
Nppa	T	A	4: 148,001,181	W82R	probably damaging	Het
Olfr243	T	A	7: 103,717,325	C244S	probably damaging	Het
Olfr981	T	G	9: 40,022,474	L27R	probably damaging	Het
Olfr994	T	C	2: 85,429,974	N285S	probably damaging	Het
Phip	T	A	9: 82,890,126	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,734,106	I695T	probably benign	Het
Ppp1r10	A	T	17: 35,928,266	M347L	probably benign	Het
Reln	A	T	5: 21,899,084	C3296*	probably null	Het
Slf2	T	A	19: 44,942,317	L611Q	probably damaging	Het
Spire1	G	A	18: 67,501,181	Q396*	probably null	Het
Taf2	A	G	15: 55,048,701	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,156,072	E451K	probably damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tmem267	T	A	13: 119,609,238	V143E	probably damaging	Het
Tyw1	C	T	5: 130,268,072	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wnk4	A	G	11: 101,268,356	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174	C331S	probably benign	Het
Zik1	A	T	7: 10,490,173	C332*	probably null	Het

Other mutations in Lrrc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Lrrc41	APN	4	116096466	missense	probably damaging	0.97
IGL01358:Lrrc41	APN	4	116075587	missense	probably benign	0.16
IGL01734:Lrrc41	APN	4	116093134	critical splice donor site	probably null
IGL01986:Lrrc41	APN	4	116089322	missense	probably benign	0.27
IGL02159:Lrrc41	APN	4	116088486	missense	probably benign	0.03
IGL02892:Lrrc41	APN	4	116088835	missense	possibly damaging	0.68
IGL03135:Lrrc41	APN	4	116088531	missense	probably benign
R1478:Lrrc41	UTSW	4	116095208	nonsense	probably null
R1765:Lrrc41	UTSW	4	116089051	missense	possibly damaging	0.94
R2233:Lrrc41	UTSW	4	116096385	missense	possibly damaging	0.66
R4080:Lrrc41	UTSW	4	116080546	splice site	probably null
R4677:Lrrc41	UTSW	4	116095135	missense	probably benign
R4833:Lrrc41	UTSW	4	116093177	unclassified	probably benign
R4877:Lrrc41	UTSW	4	116079405	missense	probably damaging	0.99
R4926:Lrrc41	UTSW	4	116089324	missense	possibly damaging	0.46
R6459:Lrrc41	UTSW	4	116088780	missense	possibly damaging	0.95
R6817:Lrrc41	UTSW	4	116089305	missense	possibly damaging	0.66
R6834:Lrrc41	UTSW	4	116096529	missense	possibly damaging	0.46
R7479:Lrrc41	UTSW	4	116089041	missense	probably damaging	0.96
R7512:Lrrc41	UTSW	4	116092994	missense	possibly damaging	0.66
R7593:Lrrc41	UTSW	4	116092944	missense	possibly damaging	0.94
R8810:Lrrc41	UTSW	4	116075291	unclassified	probably benign
R9134:Lrrc41	UTSW	4	116088585	missense	possibly damaging	0.89
R9495:Lrrc41	UTSW	4	116075609	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCACACATCAAATACATGGT -3'
(R):5'- TGGGGCTTAATTTTCCCAGGG -3'

Sequencing Primer
(F):5'- AGACAGGGTTTCTCTGTGTAACC -3'
(R):5'- TTCCCAGGGAACAATGTTAGGTCC -3'

Posted On

2020-01-23