Mutagenetix > Incidental Mutation

Incidental Mutation 'R9619:Lad1'

726562

Institutional Source

Beutler Lab

Gene Symbol

Lad1

Ensembl Gene

ENSMUSG00000041782

Gene Name

ladinin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9619 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135746336-135761079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135755521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 266 (A266S)

Ref Sequence

ENSEMBL: ENSMUSP00000044630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038760]

AlphaFold

P57016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038760
AA Change: A266S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044630
Gene: ENSMUSG00000041782
AA Change: A266S

Domain	Start	End	E-Value	Type
low complexity region	16	35	N/A	INTRINSIC
low complexity region	88	110	N/A	INTRINSIC
low complexity region	365	377	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,101,566 (GRCm39)	L1033P	probably damaging	Het
Agrn	A	G	4: 156,258,490 (GRCm39)	I992T	probably benign	Het
Akap9	A	T	5: 4,094,833 (GRCm39)	E2209V	probably damaging	Het
Arfip1	C	T	3: 84,435,081 (GRCm39)	G76E	probably benign	Het
Arsk	T	C	13: 76,223,151 (GRCm39)	T149A	probably damaging	Het
Caap1	A	G	4: 94,444,718 (GRCm39)	V75A	possibly damaging	Het
Cenpf	A	G	1: 189,385,965 (GRCm39)	V2105A	probably benign	Het
Cep152	A	G	2: 125,436,827 (GRCm39)	F571S	probably benign	Het
Crx	A	T	7: 15,602,185 (GRCm39)	D164E	probably benign	Het
Csgalnact1	A	G	8: 68,854,006 (GRCm39)	V265A	probably damaging	Het
Dchs1	C	T	7: 105,413,662 (GRCm39)	R1051Q	probably benign	Het
Dld	A	T	12: 31,382,390 (GRCm39)	L471*	probably null	Het
Dmrtb1	G	T	4: 107,540,847 (GRCm39)	H171Q	probably benign	Het
Dnajc12	G	A	10: 63,233,075 (GRCm39)	R72Q	probably damaging	Het
Dpf1	A	G	7: 29,012,618 (GRCm39)	H237R	probably benign	Het
Dsg1c	T	A	18: 20,416,499 (GRCm39)	L800Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,292 (GRCm39)	L322Q	probably damaging	Het
Ect2	A	G	3: 27,201,026 (GRCm39)	V149A	probably benign	Het
Efhc1	G	A	1: 21,037,603 (GRCm39)	R260H	probably benign	Het
Emp2	G	T	16: 10,102,420 (GRCm39)	Q131K	probably benign	Het
Ephb6	T	C	6: 41,594,249 (GRCm39)	I593T	possibly damaging	Het
Fbln5	A	C	12: 101,723,552 (GRCm39)	I383S	probably damaging	Het
Foxq1	A	T	13: 31,743,580 (GRCm39)	E227D	probably benign	Het
Gm8237	A	T	14: 5,863,637 (GRCm38)	N9K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifi44	T	C	3: 151,451,509 (GRCm39)	N199S	probably damaging	Het
Ifna16	T	G	4: 88,594,762 (GRCm39)	D111A	probably benign	Het
Igdcc3	A	G	9: 65,092,552 (GRCm39)	D793G	probably benign	Het
Igfbp5	A	G	1: 72,901,543 (GRCm39)	V270A	probably benign	Het
Kif20b	A	C	19: 34,933,429 (GRCm39)	D1345A	probably damaging	Het
Klhl9	T	C	4: 88,639,062 (GRCm39)	H393R	probably benign	Het
Lama2	A	G	10: 27,064,282 (GRCm39)	L1233P	probably damaging	Het
Limch1	T	C	5: 67,015,284 (GRCm39)	I52T	probably damaging	Het
Loxhd1	T	C	18: 77,443,871 (GRCm39)	F599L	probably benign	Het
Mfn1	A	G	3: 32,628,478 (GRCm39)	D703G	possibly damaging	Het
Nexmif	C	T	X: 103,129,841 (GRCm39)	R692H	possibly damaging	Het
Ogfod2	G	A	5: 124,252,470 (GRCm39)	G183D	probably damaging	Het
Or2z8	T	C	8: 72,811,605 (GRCm39)	L27S	probably damaging	Het
Or5aq1b	T	A	2: 86,902,140 (GRCm39)	I113F	possibly damaging	Het
Pcgf6	T	C	19: 47,037,261 (GRCm39)	T182A	possibly damaging	Het
Pcnx4	T	A	12: 72,622,282 (GRCm39)	C1084S	possibly damaging	Het
Peg10	A	G	6: 4,755,316 (GRCm39)	N366D	probably benign	Het
Prr16	T	A	18: 51,435,797 (GRCm39)	I92K	possibly damaging	Het
Rbm39	A	T	2: 156,001,117 (GRCm39)	N312K	probably damaging	Het
Rps10	G	A	17: 27,849,459 (GRCm39)	R160C	probably benign	Het
Scrg1	G	T	8: 57,927,363 (GRCm39)	V5L	unknown	Het
Slc39a4	T	A	15: 76,497,874 (GRCm39)	H408L	probably damaging	Het
Slco1a5	T	C	6: 142,198,846 (GRCm39)	E273G	probably benign	Het
Syne1	A	C	10: 5,090,909 (GRCm39)	V815G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Treml1	T	A	17: 48,672,006 (GRCm39)	F167I	probably benign	Het
Trpv2	T	C	11: 62,480,562 (GRCm39)	V333A	probably damaging	Het
Ubqln3	A	G	7: 103,791,053 (GRCm39)	F346L	probably benign	Het
Vmn2r15	T	A	5: 109,440,622 (GRCm39)	Y412F	possibly damaging	Het
Vmn2r61	A	G	7: 41,926,136 (GRCm39)	N547S	probably damaging	Het
Vopp1	G	A	6: 57,731,617 (GRCm39)	P125S	probably benign	Het
Wwc1	A	G	11: 35,766,779 (GRCm39)	F492S	probably damaging	Het
Zfp114	A	G	7: 23,880,077 (GRCm39)	E142G	probably benign	Het
Zfp715	A	C	7: 42,949,104 (GRCm39)	Y285*	probably null	Het
Zwilch	A	G	9: 64,057,440 (GRCm39)	V442A	probably benign	Het

Other mutations in Lad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03259:Lad1	APN	1	135,755,394 (GRCm39)	missense	probably benign	0.07
IGL03323:Lad1	APN	1	135,758,712 (GRCm39)	critical splice donor site	probably null
R1728:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1728:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1729:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1729:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1730:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1730:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1739:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1739:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1762:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1762:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1783:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1783:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1784:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1784:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1785:Lad1	UTSW	1	135,755,761 (GRCm39)	missense	probably damaging	1.00
R1785:Lad1	UTSW	1	135,755,119 (GRCm39)	missense	possibly damaging	0.90
R1837:Lad1	UTSW	1	135,757,444 (GRCm39)	missense	probably benign	0.00
R1854:Lad1	UTSW	1	135,755,468 (GRCm39)	missense	probably damaging	0.99
R4066:Lad1	UTSW	1	135,755,165 (GRCm39)	missense	probably damaging	1.00
R4240:Lad1	UTSW	1	135,755,033 (GRCm39)	missense	possibly damaging	0.84
R4414:Lad1	UTSW	1	135,756,484 (GRCm39)	missense	probably benign	0.06
R4415:Lad1	UTSW	1	135,756,484 (GRCm39)	missense	probably benign	0.06
R4417:Lad1	UTSW	1	135,756,484 (GRCm39)	missense	probably benign	0.06
R4770:Lad1	UTSW	1	135,753,531 (GRCm39)	missense	probably damaging	1.00
R6419:Lad1	UTSW	1	135,759,630 (GRCm39)	missense	possibly damaging	0.86
R6824:Lad1	UTSW	1	135,755,479 (GRCm39)	missense	probably benign	0.04
R6905:Lad1	UTSW	1	135,755,618 (GRCm39)	missense	probably benign	0.40
R7353:Lad1	UTSW	1	135,755,513 (GRCm39)	missense	probably damaging	0.96
R7427:Lad1	UTSW	1	135,753,576 (GRCm39)	missense	probably damaging	1.00
R7918:Lad1	UTSW	1	135,757,454 (GRCm39)	missense	probably benign	0.00
R8261:Lad1	UTSW	1	135,755,500 (GRCm39)	missense	probably damaging	0.96
R8368:Lad1	UTSW	1	135,759,264 (GRCm39)	missense	probably damaging	1.00
R8743:Lad1	UTSW	1	135,758,933 (GRCm39)	missense	probably benign	0.10
R8841:Lad1	UTSW	1	135,754,970 (GRCm39)	missense	probably benign	0.01
R9197:Lad1	UTSW	1	135,759,630 (GRCm39)	missense	probably benign	0.05
X0024:Lad1	UTSW	1	135,758,671 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGTTTCTGAGAAAGCCTGC -3'
(R):5'- CAGAAGAAGGTGGGCTCTTGTC -3'

Sequencing Primer
(F):5'- TGAGAAAGCCTGCCCCTCAG -3'
(R):5'- TCTTGTCAGGGAGGGCC -3'

Posted On

2022-10-06