Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Lrrc41'

73583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc41

Ensembl Gene

ENSMUSG00000028703

Gene Name

leucine rich repeat containing 41

Synonyms

D730026A16Rik, MUF1, D630045E04Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

116075269-116097043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116096466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 783 (L783P)

Ref Sequence

ENSEMBL: ENSMUSP00000030471 (fasta)

Gene Model

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

AlphaFold

Q8K1C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030471
AA Change: L783P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703
AA Change: L783P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139147

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 17,113,546	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,803,701	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,112,271	M195L	possibly damaging	Het
Adrm1	A	G	2: 180,175,963		probably benign	Het
Atg13	T	A	2: 91,678,831	I457F	possibly damaging	Het
BC034090	T	C	1: 155,226,384	N45D	probably damaging	Het
C3	C	T	17: 57,209,652		probably benign	Het
Cacna1a	G	A	8: 84,523,028	G221D	probably damaging	Het
Calr	A	G	8: 84,846,706		probably null	Het
Chd3	C	T	11: 69,357,731	V825I	probably damaging	Het
Chdh	T	G	14: 30,035,804		probably benign	Het
Ckap5	T	C	2: 91,570,184	V627A	probably damaging	Het
Commd3	A	G	2: 18,672,478	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,805,487		probably benign	Het
Dok7	G	A	5: 35,079,568	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,273,528	V523A	probably benign	Het
Fam171b	C	T	2: 83,879,447	Q488*	probably null	Het
Gabbr1	G	A	17: 37,048,607		probably null	Het
Gm5965	T	G	16: 88,778,331	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,550,324	D235G	probably damaging	Het
Grip1	A	T	10: 119,931,302	K111*	probably null	Het
Itih4	G	T	14: 30,891,749	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,832,455	Y266H	probably damaging	Het
Map4k5	T	C	12: 69,841,963	D298G	probably benign	Het
Mapkbp1	T	C	2: 120,018,942	F712L	probably damaging	Het
Mcoln2	T	C	3: 146,163,527		probably benign	Het
Megf11	T	A	9: 64,681,416	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185	I596M	probably damaging	Het
Msto1	C	A	3: 88,913,686	R34L	probably benign	Het
Mtmr9	A	G	14: 63,526,805	L491P	probably damaging	Het
Olfr1196	T	G	2: 88,700,966	Y121S	probably damaging	Het
Olfr12	T	C	1: 92,620,335	M143T	probably damaging	Het
Olfr917	T	A	9: 38,664,993	I284L	probably benign	Het
Otor	T	C	2: 143,078,612	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,436,154	D118Y	probably damaging	Het
Prelp	T	C	1: 133,914,807	H200R	probably benign	Het
Prmt5	T	C	14: 54,509,877	Y481C	probably damaging	Het
Psg23	T	G	7: 18,614,540	D114A	probably damaging	Het
Ptger4	A	T	15: 5,242,758	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,700,798	V385L	probably benign	Het
Rergl	T	A	6: 139,493,258	K191*	probably null	Het
Sart3	A	G	5: 113,759,250	F252S	probably damaging	Het
Sbno1	A	T	5: 124,381,706	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,604,718	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,387,696	E747K	probably benign	Het
Sptb	T	A	12: 76,587,463	D2158V	probably benign	Het
Sycp2	T	G	2: 178,358,111	D1024A	probably benign	Het
Tbr1	T	G	2: 61,806,067	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 123,171,494	I836F	probably benign	Het
Ttn	T	C	2: 76,938,747	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,948,958	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,952,999	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,569,016	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060	H353L	probably damaging	Het

Other mutations in Lrrc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8006:Lrrc41	UTSW	4	116094888	missense	possibly damaging	0.79
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

Posted On

2013-10-07