Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:L1td1'

328555

Institutional Source

Beutler Lab

Gene Symbol

L1td1

Ensembl Gene

ENSMUSG00000087166

Gene Name

LINE-1 type transposase domain containing 1

Synonyms

ECAT11

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98726734-98738480 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98737151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 528 (R528G)

Ref Sequence

ENSEMBL: ENSMUSP00000134149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000152889] [ENSMUST00000154279] [ENSMUST00000171708] [ENSMUST00000173659]

AlphaFold

Q587J6

Predicted Effect

probably benign
Transcript: ENSMUST00000152889

Predicted Effect

probably benign
Transcript: ENSMUST00000154279
AA Change: R462G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: R462G

Domain	Start	End	E-Value	Type
Pfam:Transposase_22	175	295	4e-21	PFAM
low complexity region	346	397	N/A	INTRINSIC
low complexity region	402	413	N/A	INTRINSIC
Pfam:Transposase_22	495	782	2.2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171708

Predicted Effect

probably benign
Transcript: ENSMUST00000173659
AA Change: R528G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: R528G

Domain	Start	End	E-Value	Type
Pfam:Transposase_22	175	291	6e-20	PFAM
coiled coil region	383	431	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC
Pfam:Transposase_22	568	848	4.3e-57	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in L1td1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:L1td1	APN	4	98737344	missense	probably damaging	0.99
IGL02529:L1td1	APN	4	98737421	missense	probably benign	0.01
R0254:L1td1	UTSW	4	98737182	nonsense	probably null
R0924:L1td1	UTSW	4	98737625	missense	probably damaging	1.00
R0930:L1td1	UTSW	4	98737625	missense	probably damaging	1.00
R1434:L1td1	UTSW	4	98737817	missense	possibly damaging	0.91
R1573:L1td1	UTSW	4	98737280	missense	probably benign	0.01
R1751:L1td1	UTSW	4	98737449	missense	probably benign	0.32
R1767:L1td1	UTSW	4	98737449	missense	probably benign	0.32
R1870:L1td1	UTSW	4	98737477	missense	possibly damaging	0.93
R2006:L1td1	UTSW	4	98733489	missense	possibly damaging	0.53
R2252:L1td1	UTSW	4	98737637	splice site	probably null
R2383:L1td1	UTSW	4	98737722	missense	possibly damaging	0.93
R2472:L1td1	UTSW	4	98733159	unclassified	probably benign
R3195:L1td1	UTSW	4	98737518	missense	possibly damaging	0.47
R3763:L1td1	UTSW	4	98737835	missense	probably damaging	0.99
R3950:L1td1	UTSW	4	98737353	missense	probably benign	0.12
R3962:L1td1	UTSW	4	98737449	missense	probably benign	0.32
R4643:L1td1	UTSW	4	98737883	missense	probably damaging	0.98
R4661:L1td1	UTSW	4	98733624	missense	possibly damaging	0.94
R4885:L1td1	UTSW	4	98737311	missense	probably benign	0.01
R5345:L1td1	UTSW	4	98736447	missense	probably damaging	1.00
R5589:L1td1	UTSW	4	98738104	missense	possibly damaging	0.66
R5800:L1td1	UTSW	4	98733762	missense	possibly damaging	0.96
R6207:L1td1	UTSW	4	98737418	missense	possibly damaging	0.55
R6309:L1td1	UTSW	4	98737091	missense	probably damaging	0.99
R6917:L1td1	UTSW	4	98734031	missense	probably benign	0.18
R6945:L1td1	UTSW	4	98733696	missense	probably benign	0.33
R7185:L1td1	UTSW	4	98736618	missense	possibly damaging	0.72
R7258:L1td1	UTSW	4	98736864	missense	probably benign	0.04
R7893:L1td1	UTSW	4	98733741	missense	possibly damaging	0.73
R8129:L1td1	UTSW	4	98733326	missense	probably benign	0.01
R8430:L1td1	UTSW	4	98737872	missense	probably damaging	1.00
R8485:L1td1	UTSW	4	98737674	missense	probably damaging	1.00
R8486:L1td1	UTSW	4	98737674	missense	probably damaging	1.00
R8549:L1td1	UTSW	4	98738043	missense	probably damaging	1.00
R8726:L1td1	UTSW	4	98733978	missense	probably damaging	0.98
R8787:L1td1	UTSW	4	98737577	missense	probably benign	0.06
R8920:L1td1	UTSW	4	98736627	nonsense	probably null
R8921:L1td1	UTSW	4	98733938	missense	possibly damaging	0.71
R9087:L1td1	UTSW	4	98736462	missense	possibly damaging	0.85
R9228:L1td1	UTSW	4	98737695	missense	possibly damaging	0.66
RF019:L1td1	UTSW	4	98736824	missense	not run
RF031:L1td1	UTSW	4	98736789	small deletion	probably benign
RF039:L1td1	UTSW	4	98736789	small deletion	probably benign
RF060:L1td1	UTSW	4	98736794	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTGTAGTGGCAGGAGAATG -3'
(R):5'- CTGTTTGCGGCACCTTGTAC -3'

Sequencing Primer
(F):5'- ATGTGGTGTTGGGAAAATCACC -3'
(R):5'- GCGGCACCTTGTACCTCCC -3'

Posted On

2015-07-21