Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:L1td1'

92042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

L1td1

Ensembl Gene

ENSMUSG00000087166

Gene Name

LINE-1 type transposase domain containing 1

Synonyms

ECAT11

Accession Numbers

Essential gene?

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

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

98726734-98738480 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98737344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 592 (D592G)

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

possibly damaging
Transcript: ENSMUST00000154279
AA Change: D526G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: D526G

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 damaging
Transcript: ENSMUST00000173659
AA Change: D592G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: D592G

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	Het

Other mutations in L1td1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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
R9486:L1td1	UTSW	4	98736662	missense	probably benign
R9656:L1td1	UTSW	4	98733986	missense	probably benign	0.32
R9766:L1td1	UTSW	4	98736516	missense	probably benign	0.33
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

Posted On

2013-12-09