Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Lad1'

517981

Institutional Source

Beutler Lab

Gene Symbol

Lad1

Ensembl Gene

ENSMUSG00000041782

Gene Name

ladinin

Synonyms

MMRRC Submission

044561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135746336-135761079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135759630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 509 (S509P)

Ref Sequence

ENSEMBL: ENSMUSP00000044630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038760] [ENSMUST00000178204] [ENSMUST00000188028] [ENSMUST00000189355] [ENSMUST00000189732] [ENSMUST00000190451]

AlphaFold

P57016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038760
AA Change: S509P

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044630
Gene: ENSMUSG00000041782
AA Change: S509P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178204

SMART Domains

Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	38	N/A	INTRINSIC
Pfam:Troponin	110	245	3.8e-34	PFAM
Pfam:Troponin	238	300	4.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186225

Predicted Effect

probably benign
Transcript: ENSMUST00000188028

SMART Domains

Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	251	3e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189355

SMART Domains

Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
Pfam:Troponin	96	240	1.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189732

SMART Domains

Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
Pfam:Troponin	100	244	1.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190451

SMART Domains

Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
PDB:2Z5H\|T	85	114	3e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190773

Meta Mutation Damage Score

0.0802

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm39)		probably benign	Het
Abcc2	T	A	19: 43,825,947 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,215,759 (GRCm39)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,231,556 (GRCm39)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,144,953 (GRCm39)	E34G	probably damaging	Het
Asah1	A	T	8: 41,796,803 (GRCm39)	I293N	probably damaging	Het
Atosa	G	A	9: 74,916,619 (GRCm39)	S413N	probably benign	Het
B3galt2	A	T	1: 143,522,839 (GRCm39)	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,271,348 (GRCm39)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,826,834 (GRCm39)	N204K	probably damaging	Het
Cd36	C	T	5: 18,002,150 (GRCm39)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,483 (GRCm39)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,416,008 (GRCm39)	K247R	probably benign	Het
Cldn18	T	C	9: 99,574,801 (GRCm39)	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,004,891 (GRCm39)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,962,178 (GRCm39)	C554*	probably null	Het
Col4a4	A	G	1: 82,444,207 (GRCm39)		probably null	Het
Cops5	G	A	1: 10,103,532 (GRCm39)	T158I	probably damaging	Het
Dhh	A	G	15: 98,792,282 (GRCm39)	F242S	probably damaging	Het
Dot1l	T	C	10: 80,627,315 (GRCm39)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,781,907 (GRCm39)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,711,398 (GRCm39)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,684,089 (GRCm39)	Y52N	probably damaging	Het
Gabra2	A	G	5: 71,119,426 (GRCm39)	S359P	probably benign	Het
Gbp7	G	A	3: 142,252,214 (GRCm39)	G599E	probably benign	Het
Gcat	T	G	15: 78,920,264 (GRCm39)	I198S	probably damaging	Het
Gm8439	A	G	4: 120,466,755 (GRCm39)	K82R	unknown	Het
Grin2b	A	G	6: 135,717,965 (GRCm39)	F709S	probably damaging	Het
Grm3	T	C	5: 9,620,201 (GRCm39)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,954,075 (GRCm39)		probably benign	Het
Hmgxb3	G	T	18: 61,285,296 (GRCm39)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,287,300 (GRCm39)	V305A	probably benign	Het
Ints7	T	A	1: 191,334,414 (GRCm39)	S313T	possibly damaging	Het
Knl1	T	A	2: 118,899,484 (GRCm39)	I395K	probably benign	Het
Lactb2	A	T	1: 13,708,459 (GRCm39)	Y196*	probably null	Het
Ltf	T	C	9: 110,860,090 (GRCm39)	F504L	possibly damaging	Het
Med4	A	T	14: 73,751,363 (GRCm39)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,301,073 (GRCm39)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,068,668 (GRCm39)	T54A	probably benign	Het
Notch2	G	T	3: 98,007,705 (GRCm39)		probably null	Het
Ntng1	A	T	3: 109,690,169 (GRCm39)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 59,009,113 (GRCm39)	W301*	probably null	Het
Or5b116	T	A	19: 13,423,131 (GRCm39)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm39)	S113P	possibly damaging	Het
Pcdhb20	A	G	18: 37,638,608 (GRCm39)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,473,975 (GRCm39)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,240,681 (GRCm39)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,698,117 (GRCm39)	V478M	probably damaging	Het
Sema6b	A	T	17: 56,439,784 (GRCm39)	L19*	probably null	Het
Slfn8	A	G	11: 82,894,881 (GRCm39)		probably null	Het
Spen	A	T	4: 141,203,621 (GRCm39)	S1669T	unknown	Het
Syne2	T	C	12: 76,143,740 (GRCm39)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 127,185,783 (GRCm39)	A470T	possibly damaging	Het
Tent4a	A	C	13: 69,658,785 (GRCm39)	M350R	possibly damaging	Het
Tiam1	C	A	16: 89,694,912 (GRCm39)	E182*	probably null	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trip12	C	T	1: 84,771,591 (GRCm39)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,116,529 (GRCm39)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,567,777 (GRCm39)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,323,085 (GRCm39)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,460,767 (GRCm39)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,282,795 (GRCm39)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,196,457 (GRCm39)	V28A	probably benign	Het
Wdr19	A	G	5: 65,373,236 (GRCm39)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,595,634 (GRCm39)	G33R	probably damaging	Het
Zfp330	T	G	8: 83,491,545 (GRCm39)	K209N	probably benign	Het
Zfp493	A	G	13: 67,934,526 (GRCm39)	T160A	probably benign	Het
Zfp974	A	T	7: 27,610,940 (GRCm39)	C262S	possibly damaging	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
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
R9619:Lad1	UTSW	1	135,755,521 (GRCm39)	missense	possibly damaging	0.88
X0024:Lad1	UTSW	1	135,758,671 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACATAATCTGTGGGTGAC -3'
(R):5'- GGGGTTGGTCATCTGAGAAC -3'

Sequencing Primer
(F):5'- TGTGGGTGACAGCTGCACAG -3'
(R):5'- TTGGTCATCTGAGAACACAGG -3'

Posted On

2018-05-24