Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:L1td1'

447336

Institutional Source

Beutler Lab

Gene Symbol

L1td1

Ensembl Gene

ENSMUSG00000087166

Gene Name

LINE-1 type transposase domain containing 1

Synonyms

ECAT11

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98726734-98738480 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98733762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 187 (L187P)

Ref Sequence

ENSEMBL: ENSMUSP00000127504 (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: L187P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127504
Gene: ENSMUSG00000087166
AA Change: L187P

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

unknown
Transcript: ENSMUST00000173659
AA Change: L187P

SMART Domains

Protein: ENSMUSP00000134149
Gene: ENSMUSG00000087166
AA Change: L187P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	G	A	17: 23,717,992	P72S	probably damaging	Het
4932438A13Rik	A	G	3: 37,052,443	D4974G	probably damaging	Het
Abca12	A	T	1: 71,321,432	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,954,482	D442V	probably damaging	Het
Casp4	G	A	9: 5,308,915		probably null	Het
Cfap45	T	A	1: 172,538,600	V30E	probably damaging	Het
Col6a4	A	G	9: 106,080,275	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,647,015	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,647	A1001D	probably damaging	Het
Efhc1	G	A	1: 20,978,781	V473I	probably benign	Het
Ephx2	T	C	14: 66,107,302	K191R	probably benign	Het
Ero1lb	T	A	13: 12,602,301		probably null	Het
Esyt2	A	T	12: 116,370,188	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,546,081	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,891,288	R86C	probably damaging	Het
Gm12888	T	A	4: 121,319,428	T59S	probably damaging	Het
Gm34653	T	C	2: 34,838,642	F151S	possibly damaging	Het
Gm7353	A	T	7: 3,110,168		noncoding transcript	Het
Gpr153	C	T	4: 152,280,077	Q197*	probably null	Het
H2-T23	G	T	17: 36,031,604		probably benign	Het
Ighv1-16	T	A	12: 114,665,911	R85S	probably benign	Het
Ipcef1	T	A	10: 6,890,569	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,573,070		probably null	Het
Klk1b27	A	T	7: 44,055,664	Q85L	probably benign	Het
Krt39	A	T	11: 99,521,145	D38E	probably benign	Het
Lrrc8b	C	T	5: 105,481,342	S518L	probably benign	Het
Lyg1	C	T	1: 37,946,953	D176N	probably damaging	Het
Mctp1	A	G	13: 76,688,559	N82D	probably damaging	Het
Muc6	T	C	7: 141,640,423		probably benign	Het
Nynrin	T	C	14: 55,870,631	L1065P	probably damaging	Het
Olfr1474	T	C	19: 13,471,896	S309P	probably benign	Het
Pcdh7	T	A	5: 57,722,225	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,861,302	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,435,470	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,159,665	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,720,377	D478E	probably benign	Het
Scn5a	A	G	9: 119,501,666	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,144	H136L	probably benign	Het
Senp6	A	T	9: 80,126,433	I120F	probably damaging	Het
Shisa5	G	A	9: 109,056,094		probably null	Het
Slc19a1	A	G	10: 77,042,269	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tbc1d20	T	A	2: 152,308,325		probably null	Het
Tll2	T	C	19: 41,104,934	H481R	probably benign	Het
Tmc7	A	G	7: 118,539,440	V692A	probably benign	Het
Tmem234	T	C	4: 129,607,131		probably null	Het
Vmn1r237	C	G	17: 21,314,807	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,065,998	T253S	probably benign	Het
Zfyve27	T	C	19: 42,182,663	Y191H	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGACTGTGAGAAGCAAG -3'
(R):5'- GGGCTTGTCTAGATTGCACC -3'

Sequencing Primer
(F):5'- GGTAAGCAGGACAAAGCTAAACCAC -3'
(R):5'- TGCGGGAACACATCTTTCAG -3'

Posted On

2016-12-15