Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01887:1810041L15Rik'

179175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1810041L15Rik

Ensembl Gene

ENSMUSG00000062760

Gene Name

RIKEN cDNA 1810041L15 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01887

Quality Score

Status

Chromosome

Chromosomal Location

84379203-84447097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84406650 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 152 (L152P)

Ref Sequence

ENSEMBL: ENSMUSP00000141117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080751] [ENSMUST00000189248] [ENSMUST00000189994]

AlphaFold

Q0VBP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000080751
AA Change: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079575
Gene: ENSMUSG00000062760
AA Change: L132P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
low complexity region	152	178	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189248
AA Change: L152P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141117
Gene: ENSMUSG00000062760
AA Change: L152P

Domain	Start	End	E-Value	Type
transmembrane domain	31	50	N/A	INTRINSIC
transmembrane domain	119	141	N/A	INTRINSIC
low complexity region	172	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189994
AA Change: L132P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140712
Gene: ENSMUSG00000062760
AA Change: L132P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	C	A	10: 83,621,522		probably benign	Het
Faap20	T	C	4: 155,256,200	V158A	probably damaging	Het
Fam214a	A	G	9: 75,017,057	I861V	probably benign	Het
Filip1	A	T	9: 79,819,617	D573E	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Lins1	T	C	7: 66,710,381	I168T	probably damaging	Het
Myo5b	A	G	18: 74,714,936	R1082G	probably benign	Het
Olfr1089	A	G	2: 86,732,686	C309R	probably benign	Het
Olfr1110	A	G	2: 87,135,541	I260T	possibly damaging	Het
Pomt2	C	T	12: 87,119,589	V439I	probably damaging	Het
Rars	A	T	11: 35,825,995	D231E	probably benign	Het
Slf1	A	T	13: 77,100,982	N362K	probably benign	Het
Smad2	T	C	18: 76,299,894	V299A	probably damaging	Het
Tead2	T	C	7: 45,232,310	V84A	probably damaging	Het
Tnni3k	A	T	3: 154,875,187		probably null	Het
Trp63	C	T	16: 25,865,319	R319C	probably damaging	Het
Vmn1r203	G	A	13: 22,524,876	V276I	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp318	G	T	17: 46,399,168	V606L	probably benign	Het

Other mutations in 1810041L15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02381:1810041L15Rik	APN	15	84406453	missense	probably damaging	1.00
IGL02826:1810041L15Rik	APN	15	84420129	splice site	probably benign
R1604:1810041L15Rik	UTSW	15	84406471	missense	probably benign	0.01
R1823:1810041L15Rik	UTSW	15	84406468	missense	probably benign	0.00
R2246:1810041L15Rik	UTSW	15	84417199	missense	probably damaging	1.00
R3771:1810041L15Rik	UTSW	15	84406685	nonsense	probably null
R3772:1810041L15Rik	UTSW	15	84406685	nonsense	probably null
R3773:1810041L15Rik	UTSW	15	84406685	nonsense	probably null
R4805:1810041L15Rik	UTSW	15	84417196	missense	probably damaging	1.00
R5070:1810041L15Rik	UTSW	15	84420163	missense	possibly damaging	0.56
R5114:1810041L15Rik	UTSW	15	84417226	missense	probably damaging	1.00
R5491:1810041L15Rik	UTSW	15	84406510	missense	probably benign	0.00
R7567:1810041L15Rik	UTSW	15	84406713	missense	probably benign	0.00
R8715:1810041L15Rik	UTSW	15	84417145	missense	probably damaging	1.00

Posted On

2014-05-07