Mutagenetix > Incidental Mutations

Incidental Mutation 'R3950:L1td1'

307859

Institutional Source

Beutler Lab

Gene Symbol

L1td1

Ensembl Gene

ENSMUSG00000087166

Gene Name

LINE-1 type transposase domain containing 1

Synonyms

ECAT11

MMRRC Submission

040930-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98726734-98738480 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98737353 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 595 (L595P)

Ref Sequence

ENSEMBL: ENSMUSP00000134149 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152889

Predicted Effect

probably benign
Transcript: ENSMUST00000154279
AA Change: L529P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: L529P

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: L595P

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: L595P

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: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly 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
R3962:L1td1	UTSW	4	98737449	missense	probably benign	0.32
R4430:L1td1	UTSW	4	98737151	missense	probably benign	0.00
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
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'- AACCTTATATTTGACTTCTCCATCAGA -3'
(R):5'- TGGACAGAGAGCACTCCA -3'

Sequencing Primer
(F):5'- CTCCATCAGAATCTTTAGGGGCAG -3'
(R):5'- GTGCTCATCCACTGAATTAGGGAC -3'

Posted On

2015-04-17