Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Layn'

701366

Institutional Source

Beutler Lab

Gene Symbol

Layn

Ensembl Gene

ENSMUSG00000060594

Gene Name

layilin

Synonyms

LOC244864, E030012M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50966323-50988501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50968760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 328 (S328P)

Ref Sequence

ENSEMBL: ENSMUSP00000096379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098782] [ENSMUST00000214452] [ENSMUST00000217212]

AlphaFold

Q8C351

PDB Structure

Solution structure of the talin F3 in complex with layilin cytodomain [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098782
AA Change: S328P

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096379
Gene: ENSMUSG00000060594
AA Change: S328P

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CLECT	41	185	6.18e-25	SMART
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214452

Predicted Effect

probably benign
Transcript: ENSMUST00000217212

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,002 (GRCm39)	N132S	probably benign	Het
Agpat2	A	G	2: 26,483,601 (GRCm39)	*279Q	probably null	Het
Akr1c19	C	A	13: 4,292,974 (GRCm39)	D243E	probably benign	Het
Alg2	A	G	4: 47,474,001 (GRCm39)	F96L	probably benign	Het
Apob	C	T	12: 8,065,231 (GRCm39)	Q4067*	probably null	Het
C1ra	A	T	6: 124,489,580 (GRCm39)		probably benign	Het
C8a	T	C	4: 104,703,199 (GRCm39)	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,576,221 (GRCm39)	V156A	probably benign	Het
Ces1g	A	G	8: 94,060,319 (GRCm39)	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113 (GRCm39)	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,211,094 (GRCm39)	A65T	probably benign	Het
Dcaf5	T	C	12: 80,386,563 (GRCm39)	D521G	probably benign	Het
Dnmt1	A	G	9: 20,833,408 (GRCm39)	F631L	possibly damaging	Het
Dok1	T	A	6: 83,008,893 (GRCm39)	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,081,112 (GRCm39)	F293L	probably benign	Het
Ehmt1	A	T	2: 24,738,077 (GRCm39)	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,231,556 (GRCm39)	V551E	possibly damaging	Het
Fig4	C	T	10: 41,153,478 (GRCm39)	V108I	probably benign	Het
Gpa33	A	G	1: 165,991,396 (GRCm39)	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,963,026 (GRCm39)	H52R		Het
Heatr9	A	T	11: 83,409,281 (GRCm39)	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,685,242 (GRCm39)	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mboat1	A	G	13: 30,410,392 (GRCm39)	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,736,226 (GRCm39)	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,485,167 (GRCm39)	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Or5p59	T	C	7: 107,703,256 (GRCm39)	S247P	probably damaging	Het
Or8c16	T	C	9: 38,130,706 (GRCm39)	Y193H	probably benign	Het
Ostm1	T	C	10: 42,574,210 (GRCm39)	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,577,608 (GRCm39)	D662V	probably damaging	Het
Pfpl	T	A	19: 12,406,374 (GRCm39)	S208R	probably damaging	Het
Plin5	A	T	17: 56,419,324 (GRCm39)	V366E	probably damaging	Het
Rmi1	A	G	13: 58,556,899 (GRCm39)	I383V	probably benign	Het
Rnh1	T	C	7: 140,740,714 (GRCm39)	T414A	probably benign	Het
Sash1	C	A	10: 8,617,296 (GRCm39)	G537W	probably damaging	Het
Slc9c1	A	G	16: 45,370,551 (GRCm39)	N264S	probably benign	Het
Speg	A	C	1: 75,398,420 (GRCm39)	T1956P	probably damaging	Het
St14	T	C	9: 31,002,905 (GRCm39)	Y666C	probably damaging	Het
Stab2	T	A	10: 86,727,481 (GRCm39)	H1448L	probably damaging	Het
Syne2	C	T	12: 76,154,230 (GRCm39)		probably benign	Het
Taf9	T	A	13: 100,790,860 (GRCm39)		probably benign	Het
Thumpd2	G	A	17: 81,334,040 (GRCm39)	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,335,308 (GRCm39)	K797E	probably damaging	Het
Tpte	A	G	8: 22,841,489 (GRCm39)	T494A	possibly damaging	Het
Ttc41	T	A	10: 86,567,113 (GRCm39)	L593Q	probably benign	Het
Uggt1	A	C	1: 36,249,103 (GRCm39)	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,804,084 (GRCm39)	F277S	probably damaging	Het
Vat1	A	T	11: 101,351,380 (GRCm39)	N320K	possibly damaging	Het
Wdr81	G	T	11: 75,336,256 (GRCm39)	A592E		Het
Zfp780b	C	T	7: 27,673,143 (GRCm39)		probably null	Het
Zfp944	A	T	17: 22,562,619 (GRCm39)		probably null	Het
Zfp956	G	T	6: 47,934,437 (GRCm39)	G136W	possibly damaging	Het

Other mutations in Layn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Layn	APN	9	50,968,708 (GRCm39)	missense	probably damaging	1.00
IGL01145:Layn	APN	9	50,985,346 (GRCm39)	missense	probably benign	0.01
IGL02006:Layn	APN	9	50,968,591 (GRCm39)	intron	probably benign
IGL02226:Layn	APN	9	50,985,317 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Layn	UTSW	9	50,968,711 (GRCm39)	missense	probably damaging	0.98
R1464:Layn	UTSW	9	50,968,886 (GRCm39)	missense	probably damaging	1.00
R1464:Layn	UTSW	9	50,968,886 (GRCm39)	missense	probably damaging	1.00
R1775:Layn	UTSW	9	50,970,833 (GRCm39)	missense	probably benign	0.03
R2156:Layn	UTSW	9	50,968,697 (GRCm39)	missense	probably benign
R3732:Layn	UTSW	9	50,970,844 (GRCm39)	missense	probably damaging	1.00
R3732:Layn	UTSW	9	50,970,844 (GRCm39)	missense	probably damaging	1.00
R3733:Layn	UTSW	9	50,970,844 (GRCm39)	missense	probably damaging	1.00
R3757:Layn	UTSW	9	50,970,856 (GRCm39)	missense	probably benign	0.11
R4840:Layn	UTSW	9	50,968,682 (GRCm39)	missense	probably damaging	1.00
R5792:Layn	UTSW	9	50,979,461 (GRCm39)	missense	probably damaging	1.00
R7185:Layn	UTSW	9	50,985,173 (GRCm39)	missense	possibly damaging	0.58
R7216:Layn	UTSW	9	50,988,352 (GRCm39)	start gained	probably benign
R7404:Layn	UTSW	9	50,968,670 (GRCm39)	missense	possibly damaging	0.94
R8784:Layn	UTSW	9	50,970,781 (GRCm39)	missense	possibly damaging	0.60
R9228:Layn	UTSW	9	50,968,837 (GRCm39)	missense	probably damaging	1.00
R9725:Layn	UTSW	9	50,968,775 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTCCTTGTAAGAAATCGGAGG -3'
(R):5'- AAGGAGCAGCACACCATTTG -3'

Sequencing Primer
(F):5'- AAGAAATCGGAGGCCTTTGCTTC -3'
(R):5'- GCACACCATTTGGCCCACTC -3'

Posted On

2022-03-25