Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:L1td1'

564405

Institutional Source

Beutler Lab

Gene Symbol

L1td1

Ensembl Gene

ENSMUSG00000087166

Gene Name

LINE-1 type transposase domain containing 1

Synonyms

ECAT11

MMRRC Submission

045386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7258 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98614991-98626723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98625101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 432 (A432V)

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

SMART Domains

Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166

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: A432V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: A432V

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

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
4933402J07Rik	A	C	8: 88,312,805 (GRCm39)	S197R	probably damaging	Het
Abcc12	T	C	8: 87,287,486 (GRCm39)	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,327,418 (GRCm39)	I67V	probably benign	Het
Alpk1	A	T	3: 127,518,115 (GRCm39)	V62E	probably damaging	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Ccr5	A	T	9: 123,925,311 (GRCm39)	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,292,518 (GRCm39)	H339R	probably damaging	Het
Cdhr18	A	T	14: 13,899,648 (GRCm38)	F91L		Het
Cep290	T	G	10: 100,334,970 (GRCm39)	M330R	probably benign	Het
Cyfip2	T	C	11: 46,115,004 (GRCm39)	Y901C	probably benign	Het
Ddx54	T	G	5: 120,758,812 (GRCm39)	Y352D	probably damaging	Het
Defa35	A	T	8: 21,555,245 (GRCm39)	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,525,519 (GRCm39)		probably null	Het
Enpep	A	C	3: 129,125,724 (GRCm39)	L136R	probably benign	Het
Epb41l2	G	A	10: 25,360,185 (GRCm39)	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,305,764 (GRCm39)	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974 (GRCm39)	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,212,542 (GRCm39)	L410H	probably damaging	Het
Gipc2	T	C	3: 151,871,352 (GRCm39)	E58G	probably damaging	Het
Gm6309	A	T	5: 146,105,106 (GRCm39)	V269E	probably benign	Het
Grm5	A	T	7: 87,723,914 (GRCm39)	T735S	probably damaging	Het
H6pd	T	C	4: 150,080,819 (GRCm39)	M9V	probably benign	Het
Hmcn1	A	G	1: 150,591,574 (GRCm39)	I1875T	probably benign	Het
Hrc	T	A	7: 44,985,720 (GRCm39)	D290E	possibly damaging	Het
Iftap	T	C	2: 101,440,937 (GRCm39)	D22G	probably null	Het
Ippk	C	A	13: 49,587,338 (GRCm39)	Q136K	probably benign	Het
Kcnv1	T	C	15: 44,972,711 (GRCm39)	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,548,759 (GRCm39)	E1088A	probably damaging	Het
Ly86	A	G	13: 37,529,473 (GRCm39)	D20G	probably benign	Het
Myo1g	A	G	11: 6,459,416 (GRCm39)	I818T	possibly damaging	Het
Nms	A	G	1: 38,986,051 (GRCm39)	T121A	probably benign	Het
Or1e31	T	G	11: 73,690,206 (GRCm39)	I126L	probably damaging	Het
Or1j4	T	A	2: 36,740,352 (GRCm39)	I98K	probably damaging	Het
Or51af1	G	C	7: 103,141,796 (GRCm39)	C96W	probably damaging	Het
Or6b3	A	T	1: 92,438,898 (GRCm39)	I284N	possibly damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8k37	T	A	2: 86,469,345 (GRCm39)	K236*	probably null	Het
Pcdhb9	T	C	18: 37,535,167 (GRCm39)	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,241,305 (GRCm39)	R95H	probably damaging	Het
Pde11a	T	C	2: 75,970,250 (GRCm39)	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,064,203 (GRCm39)	D446G	probably benign	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rasal2	A	T	1: 156,985,270 (GRCm39)	L826M	probably damaging	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sin3b	T	C	8: 73,476,836 (GRCm39)	C757R	probably benign	Het
Slc41a1	T	A	1: 131,769,780 (GRCm39)	V300D	probably benign	Het
Snorc	A	C	1: 87,402,789 (GRCm39)	I40L	probably benign	Het
Snrpa1	T	C	7: 65,719,891 (GRCm39)	F162L	probably damaging	Het
Sox30	C	A	11: 45,871,379 (GRCm39)	A78E	unknown	Het
Ssc4d	G	T	5: 135,991,941 (GRCm39)	A401E	probably damaging	Het
Steap3	A	G	1: 120,171,716 (GRCm39)	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,732,271 (GRCm39)		probably null	Het
Tgfbr2	A	T	9: 115,958,898 (GRCm39)	I172N	probably damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,419,272 (GRCm39)	S96P	probably damaging	Het
Trpa1	T	G	1: 14,973,473 (GRCm39)	T282P	probably damaging	Het
Uba5	A	T	9: 103,940,132 (GRCm39)	V5E	unknown	Het
Ugt2b36	A	T	5: 87,228,762 (GRCm39)	L427H	probably damaging	Het
Utp14b	T	A	1: 78,642,691 (GRCm39)	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,380,848 (GRCm39)	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,525,403 (GRCm39)	L354V	probably benign	Het
Wwc2	T	A	8: 48,296,034 (GRCm39)	N1079Y	unknown	Het
Zfp653	T	C	9: 21,977,116 (GRCm39)	D145G	probably benign	Het
Zfp777	T	C	6: 48,002,731 (GRCm39)	E453G	probably damaging	Het
Zfp936	T	A	7: 42,839,803 (GRCm39)	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,514,151 (GRCm39)	Y496N	possibly 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
R5589:L1td1	UTSW	4	98,626,341 (GRCm39)	missense	possibly damaging	0.66
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
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'- TGCTAGTCCAGAGGTGAAGAC -3'
(R):5'- AGTCTGGGAAGCCGTCTTTC -3'

Sequencing Primer
(F):5'- ACCGGAAGAATAAAGGAACTCTC -3'
(R):5'- GGAAGCCGTCTTTCTGTTTAC -3'

Posted On

2019-06-26