Mutagenetix > Incidental Mutation

Incidental Mutation 'R5589:L1td1'

437339

Institutional Source

Beutler Lab

Gene Symbol

L1td1

Ensembl Gene

ENSMUSG00000087166

Gene Name

LINE-1 type transposase domain containing 1

Synonyms

ECAT11

MMRRC Submission

043142-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98614991-98626723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98626341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 845 (N845K)

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: N779K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: N779K

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

possibly damaging
Transcript: ENSMUST00000173659
AA Change: N845K

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: N845K

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,066 (GRCm39)	M76L	probably benign	Het
Adrm1b	T	A	3: 92,336,112 (GRCm39)		probably benign	Het
Alg1	T	A	16: 5,053,086 (GRCm39)	W116R	probably benign	Het
Ano3	A	T	2: 110,715,340 (GRCm39)	S33T	probably damaging	Het
Atp2b2	T	C	6: 113,751,400 (GRCm39)	E556G	possibly damaging	Het
Brca2	T	A	5: 150,480,597 (GRCm39)	I2761K	possibly damaging	Het
Ccdc68	G	A	18: 70,079,577 (GRCm39)	G141E	probably benign	Het
Cckbr	T	C	7: 105,083,732 (GRCm39)	V220A	probably damaging	Het
Ccnd3	G	A	17: 47,909,544 (GRCm39)	R45Q	probably damaging	Het
Cdh24	G	T	14: 54,874,832 (GRCm39)	T391N	probably damaging	Het
Cldn11	A	G	3: 31,204,395 (GRCm39)	T33A	probably damaging	Het
Clec2e	T	A	6: 129,075,391 (GRCm39)	Y50F	probably benign	Het
Cntnap1	A	G	11: 101,075,944 (GRCm39)	N943D	probably benign	Het
Cspg4b	A	G	13: 113,454,484 (GRCm39)	R177G	possibly damaging	Het
Dmgdh	T	C	13: 93,813,665 (GRCm39)	V70A	probably damaging	Het
Gm14496	C	A	2: 181,637,674 (GRCm39)	Y249*	probably null	Het
Gmnc	T	A	16: 26,781,714 (GRCm39)	H105L	probably damaging	Het
Gpt2	A	G	8: 86,219,740 (GRCm39)	Y62C	probably damaging	Het
Ift80	T	C	3: 68,838,233 (GRCm39)	R413G	probably damaging	Het
Kctd16	C	A	18: 40,392,061 (GRCm39)	D216E	probably damaging	Het
Kif26b	T	C	1: 178,743,864 (GRCm39)	V873A	probably benign	Het
Klra4	G	T	6: 130,039,117 (GRCm39)	Q92K	probably benign	Het
Lama3	C	T	18: 12,605,277 (GRCm39)	T1077I	possibly damaging	Het
Loxhd1	T	C	18: 77,429,751 (GRCm39)	I230T	possibly damaging	Het
Lsg1	T	C	16: 30,399,819 (GRCm39)	N160S	probably damaging	Het
Lyzl4	G	A	9: 121,413,469 (GRCm39)	R24C	probably damaging	Het
Mib1	A	G	18: 10,794,488 (GRCm39)	N658S	probably benign	Het
Mmp8	T	C	9: 7,566,275 (GRCm39)	I377T	probably damaging	Het
Mtmr14	T	C	6: 113,238,243 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,548,414 (GRCm39)	T58A	possibly damaging	Het
Myo9a	C	T	9: 59,802,527 (GRCm39)	Q2005*	probably null	Het
Neu3	G	T	7: 99,472,636 (GRCm39)	P34T	probably benign	Het
Nlrp4b	G	A	7: 10,449,512 (GRCm39)	V205I	probably benign	Het
Or4b1b	C	T	2: 90,112,313 (GRCm39)	G202D	probably damaging	Het
Or4k38	T	C	2: 111,165,850 (GRCm39)	N191S	possibly damaging	Het
Or5h23	A	T	16: 58,906,334 (GRCm39)	S171T	probably benign	Het
Or5t15	A	G	2: 86,681,118 (GRCm39)	I308T	unknown	Het
Or6c66	T	G	10: 129,461,319 (GRCm39)	T204P	probably damaging	Het
Or9m1	T	C	2: 87,733,691 (GRCm39)	T110A	probably benign	Het
Pcsk6	T	C	7: 65,578,933 (GRCm39)		probably null	Het
Pik3c2a	A	G	7: 116,016,893 (GRCm39)	V288A	probably benign	Het
Plcd3	T	C	11: 102,968,629 (GRCm39)	D354G	probably benign	Het
Prkdc	C	A	16: 15,524,655 (GRCm39)	N1219K	probably benign	Het
Prl3d1	T	A	13: 27,278,927 (GRCm39)	Y41N	probably damaging	Het
Qrich2	C	T	11: 116,332,234 (GRCm39)	G2321R	probably damaging	Het
Rrbp1	T	C	2: 143,831,886 (GRCm39)	I94V	probably benign	Het
Serinc1	C	A	10: 57,399,262 (GRCm39)	V214L	probably benign	Het
Serpina9	G	T	12: 103,967,728 (GRCm39)	N222K	probably benign	Het
Smchd1	A	G	17: 71,747,956 (GRCm39)	Y429H	probably damaging	Het
Smyd1	C	T	6: 71,239,164 (GRCm39)	V9M	probably damaging	Het
Sostdc1	C	T	12: 36,367,246 (GRCm39)	Q141*	probably null	Het
Spam1	C	T	6: 24,796,109 (GRCm39)	T20I	probably benign	Het
Tex47	T	C	5: 7,354,834 (GRCm39)	V5A	probably benign	Het
Thbs4	T	C	13: 92,912,582 (GRCm39)		probably null	Het
Trim45	C	T	3: 100,837,257 (GRCm39)	P531L	probably damaging	Het
Tshb	A	T	3: 102,685,478 (GRCm39)	Y50*	probably null	Het
Ttn	T	C	2: 76,599,320 (GRCm39)	I19230V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba6	G	A	5: 86,270,288 (GRCm39)	T832I	probably damaging	Het
Unc13d	A	T	11: 115,960,579 (GRCm39)	V497D	probably damaging	Het
Usp13	T	C	3: 32,892,007 (GRCm39)	V62A	probably damaging	Het
Vmn1r215	A	C	13: 23,260,189 (GRCm39)	L76F	probably damaging	Het
Vmn1r215	G	T	13: 23,260,190 (GRCm39)	G77C	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zbtb40	T	C	4: 136,722,594 (GRCm39)	D828G	probably damaging	Het
Zfp74	A	T	7: 29,633,990 (GRCm39)	C573S	probably damaging	Het

Other mutations in L1td1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:L1td1	APN	4	98,625,581 (GRCm39)	missense	probably damaging	0.99
IGL02529:L1td1	APN	4	98,625,658 (GRCm39)	missense	probably benign	0.01
R0254:L1td1	UTSW	4	98,625,419 (GRCm39)	nonsense	probably null
R0924:L1td1	UTSW	4	98,625,862 (GRCm39)	missense	probably damaging	1.00
R0930:L1td1	UTSW	4	98,625,862 (GRCm39)	missense	probably damaging	1.00
R1434:L1td1	UTSW	4	98,626,054 (GRCm39)	missense	possibly damaging	0.91
R1573:L1td1	UTSW	4	98,625,517 (GRCm39)	missense	probably benign	0.01
R1751:L1td1	UTSW	4	98,625,686 (GRCm39)	missense	probably benign	0.32
R1767:L1td1	UTSW	4	98,625,686 (GRCm39)	missense	probably benign	0.32
R1870:L1td1	UTSW	4	98,625,714 (GRCm39)	missense	possibly damaging	0.93
R2006:L1td1	UTSW	4	98,621,726 (GRCm39)	missense	possibly damaging	0.53
R2252:L1td1	UTSW	4	98,625,874 (GRCm39)	splice site	probably null
R2383:L1td1	UTSW	4	98,625,959 (GRCm39)	missense	possibly damaging	0.93
R2472:L1td1	UTSW	4	98,621,396 (GRCm39)	unclassified	probably benign
R3195:L1td1	UTSW	4	98,625,755 (GRCm39)	missense	possibly damaging	0.47
R3763:L1td1	UTSW	4	98,626,072 (GRCm39)	missense	probably damaging	0.99
R3950:L1td1	UTSW	4	98,625,590 (GRCm39)	missense	probably benign	0.12
R3962:L1td1	UTSW	4	98,625,686 (GRCm39)	missense	probably benign	0.32
R4430:L1td1	UTSW	4	98,625,388 (GRCm39)	missense	probably benign	0.00
R4643:L1td1	UTSW	4	98,626,120 (GRCm39)	missense	probably damaging	0.98
R4661:L1td1	UTSW	4	98,621,861 (GRCm39)	missense	possibly damaging	0.94
R4885:L1td1	UTSW	4	98,625,548 (GRCm39)	missense	probably benign	0.01
R5345:L1td1	UTSW	4	98,624,684 (GRCm39)	missense	probably damaging	1.00
R5800:L1td1	UTSW	4	98,621,999 (GRCm39)	missense	possibly damaging	0.96
R6207:L1td1	UTSW	4	98,625,655 (GRCm39)	missense	possibly damaging	0.55
R6309:L1td1	UTSW	4	98,625,328 (GRCm39)	missense	probably damaging	0.99
R6917:L1td1	UTSW	4	98,622,268 (GRCm39)	missense	probably benign	0.18
R6945:L1td1	UTSW	4	98,621,933 (GRCm39)	missense	probably benign	0.33
R7185:L1td1	UTSW	4	98,624,855 (GRCm39)	missense	possibly damaging	0.72
R7258:L1td1	UTSW	4	98,625,101 (GRCm39)	missense	probably benign	0.04
R7893:L1td1	UTSW	4	98,621,978 (GRCm39)	missense	possibly damaging	0.73
R8129:L1td1	UTSW	4	98,621,563 (GRCm39)	missense	probably benign	0.01
R8430:L1td1	UTSW	4	98,626,109 (GRCm39)	missense	probably damaging	1.00
R8485:L1td1	UTSW	4	98,625,911 (GRCm39)	missense	probably damaging	1.00
R8486:L1td1	UTSW	4	98,625,911 (GRCm39)	missense	probably damaging	1.00
R8549:L1td1	UTSW	4	98,626,280 (GRCm39)	missense	probably damaging	1.00
R8726:L1td1	UTSW	4	98,622,215 (GRCm39)	missense	probably damaging	0.98
R8787:L1td1	UTSW	4	98,625,814 (GRCm39)	missense	probably benign	0.06
R8920:L1td1	UTSW	4	98,624,864 (GRCm39)	nonsense	probably null
R8921:L1td1	UTSW	4	98,622,175 (GRCm39)	missense	possibly damaging	0.71
R9087:L1td1	UTSW	4	98,624,699 (GRCm39)	missense	possibly damaging	0.85
R9228:L1td1	UTSW	4	98,625,932 (GRCm39)	missense	possibly damaging	0.66
R9486:L1td1	UTSW	4	98,624,899 (GRCm39)	missense	probably benign
R9656:L1td1	UTSW	4	98,622,223 (GRCm39)	missense	probably benign	0.32
R9766:L1td1	UTSW	4	98,624,753 (GRCm39)	missense	probably benign	0.33
RF019:L1td1	UTSW	4	98,625,061 (GRCm39)	missense	not run
RF031:L1td1	UTSW	4	98,625,026 (GRCm39)	small deletion	probably benign
RF039:L1td1	UTSW	4	98,625,026 (GRCm39)	small deletion	probably benign
RF060:L1td1	UTSW	4	98,625,031 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCACGATTGAGGCCAGG -3'
(R):5'- AGCTACATACGCTGTCTAACTCAAC -3'

Sequencing Primer
(F):5'- GTCCCTAATTCAGTGGATGAGCAC -3'
(R):5'- TGTCTAACTCAACCAACACTCAGGG -3'

Posted On

2016-10-26