Mutagenetix > Incidental Mutations

Incidental Mutation 'R7512:Lrrc41'

582134

Institutional Source

Beutler Lab

Gene Symbol

Lrrc41

Ensembl Gene

ENSMUSG00000028703

Gene Name

leucine rich repeat containing 41

Synonyms

D730026A16Rik, MUF1, D630045E04Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R7512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116075269-116097043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116092994 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 535 (T535A)

Ref Sequence

ENSEMBL: ENSMUSP00000030471 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030471
AA Change: T535A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703
AA Change: T535A

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	G	A	10: 82,292,635	L1514F	probably benign	Het
Abca8b	C	T	11: 109,938,449	A1395T	probably benign	Het
Ank3	A	G	10: 69,990,861	K1787E		Het
Atg2a	C	T	19: 6,260,076	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,050,949	I1637V	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Camsap3	A	G	8: 3,598,740	T20A	probably benign	Het
Ccnt2	T	A	1: 127,802,294	S303T	possibly damaging	Het
Cdh3	C	T	8: 106,539,008	Q228*	probably null	Het
Col19a1	C	T	1: 24,317,707	G632R	probably damaging	Het
Dock2	A	C	11: 34,312,542	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410	V412L	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Fam185a	G	A	5: 21,447,358		probably null	Het
Fam189a1	C	T	7: 65,156,170	A52T	probably benign	Het
Fcho1	A	G	8: 71,716,863	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406	R181H	possibly damaging	Het
Gen1	A	G	12: 11,260,976	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,915,890	I158K	probably benign	Het
Gm4027	G	T	12: 87,621,981	E128*	probably null	Het
Gm5624	T	C	14: 44,561,855	R82G		Het
Grap2	A	C	15: 80,648,553	N307T	probably benign	Het
H6pd	A	G	4: 149,995,948	F147L	probably benign	Het
Haspin	A	T	11: 73,136,592	I557N	probably damaging	Het
Hectd4	A	T	5: 121,297,109	K961N	possibly damaging	Het
Helz2	A	G	2: 181,230,854	M2495T	probably benign	Het
Helz2	A	T	2: 181,235,600		probably null	Het
Impdh1	T	C	6: 29,207,169	I59V	probably benign	Het
Kcnn1	A	T	8: 70,854,649	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,700,965	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,790,938	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,628,033	C50*	probably null	Het
Lat2	T	A	5: 134,605,944	D114V	probably damaging	Het
Ly75	A	T	2: 60,334,563	V757D	probably damaging	Het
Masp1	C	A	16: 23,470,124	R642L	probably damaging	Het
Morn3	A	G	5: 123,037,280		probably null	Het
Mpl	A	T	4: 118,448,892	I384N		Het
Mtmr14	C	T	6: 113,268,691	Q409*	probably null	Het
Nek1	T	A	8: 61,130,145	D1272E	probably benign	Het
Oit3	T	C	10: 59,438,894	Y28C	probably damaging	Het
Olfr1267-ps1	A	G	2: 90,085,696	I255T	possibly damaging	Het
Olfr204	T	A	16: 59,315,027	N127Y	probably damaging	Het
Olfr372	T	A	8: 72,058,523	I281N	probably damaging	Het
Pcdh15	T	C	10: 74,641,382	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,682,365	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,195,014	R1062*	probably null	Het
Pds5b	T	C	5: 150,788,342	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,315,119		probably null	Het
Ppp2r3a	T	C	9: 101,175,333	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,571,781	T413I	possibly damaging	Het
Rora	C	A	9: 69,374,085	D382E	probably benign	Het
Sacs	T	A	14: 61,204,430	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,232,241		probably null	Het
Slit1	T	C	19: 41,600,635	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,683,809	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,381,369	N1298S	possibly damaging	Het
Spata13	T	C	14: 60,751,777	L964P	probably damaging	Het
Trav7-6	C	A	14: 53,717,095	D47E	probably benign	Het
Ubap2l	A	G	3: 90,010,496	F864L	unknown	Het
Vmn2r102	C	T	17: 19,694,101	P643S	probably damaging	Het
Zfp112	T	A	7: 24,125,179	C195S	possibly damaging	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
R7593:Lrrc41	UTSW	4	116092944	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGGAGTTTGCACTGAATATTCTGC -3'
(R):5'- CGCAGATGATGTTCCCTTCATC -3'

Sequencing Primer
(F):5'- GCTTAAATTTCCCACATCTGTAACC -3'
(R):5'- GATGATGTTCCCTTCATCTACCCAC -3'

Posted On

2019-10-17