Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02576:Glipr1l1'

299211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glipr1l1

Ensembl Gene

ENSMUSG00000020213

Gene Name

GLI pathogenesis-related 1 like 1

Synonyms

1700011E04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL02576

Quality Score

Status

Chromosome

Chromosomal Location

112060189-112078510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112060319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 4 (K4E)

Ref Sequence

ENSEMBL: ENSMUSP00000073302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073617]

AlphaFold

Q9DAG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073617
AA Change: K4E

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: K4E

Domain	Start	End	E-Value	Type
SCP	40	186	6.52e-50	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,433,455	I232M	probably benign	Het
Ace	G	A	11: 105,974,111	V537M	probably damaging	Het
Alg1	A	G	16: 5,244,529	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,671,910	S46N	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cfap65	A	G	1: 74,903,458	S1646P	probably damaging	Het
Col20a1	C	T	2: 181,013,405	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 24,856,870	T92P	possibly damaging	Het
Drc3	T	C	11: 60,370,551	M176T	probably benign	Het
Esyt3	T	C	9: 99,315,225	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,175	V496A	probably benign	Het
Fut4	T	A	9: 14,751,405	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953		probably benign	Het
Gm9945	A	G	11: 53,480,351		probably benign	Het
Hspa12a	A	C	19: 58,799,410	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,945,504	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,748,763	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,386,581	I158V	probably benign	Het
Itgae	A	G	11: 73,118,505	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,862,545		probably benign	Het
Kif26b	T	C	1: 178,916,347	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,864,120	S450P	unknown	Het
Lexm	T	C	4: 106,591,628	D411G	possibly damaging	Het
Lhfpl2	G	A	13: 94,174,226	M1I	probably null	Het
Lig4	A	G	8: 9,971,116	I888T	probably damaging	Het
Msh4	G	A	3: 153,867,746	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,817,044	A3238V	probably benign	Het
Myo15b	A	G	11: 115,890,053	S1246G	probably null	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Pecam1	G	A	11: 106,671,774	T599M	probably damaging	Het
Phf3	G	A	1: 30,830,036	P644S	probably benign	Het
Pkd1l1	A	C	11: 8,844,560	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,900,937	M613T	possibly damaging	Het
Prim2	A	T	1: 33,484,717	I371N	probably damaging	Het
Ptprs	T	C	17: 56,414,958	D1316G	probably damaging	Het
Rnf19b	C	T	4: 129,073,522	R285*	probably null	Het
Secisbp2	A	G	13: 51,670,858	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,458,171	I586T	probably damaging	Het
Spef1	T	C	2: 131,174,642	H11R	possibly damaging	Het
Taar4	T	C	10: 23,961,011	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,847,740	F200S	possibly damaging	Het
Tex16	T	A	X: 112,118,956	L384Q	probably benign	Het
Tox2	A	G	2: 163,276,180	Q168R	probably damaging	Het
Trim5	T	A	7: 104,278,417	E172V	probably damaging	Het
Txndc11	G	A	16: 11,075,017		probably benign	Het
Vmn1r232	T	A	17: 20,913,913	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,601,269	H269L	probably benign	Het
Znrf4	T	C	17: 56,512,199	D36G	probably damaging	Het

Other mutations in Glipr1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Glipr1l1	APN	10	112078381	missense	probably benign	0.02
IGL01660:Glipr1l1	APN	10	112072279	missense	probably damaging	0.97
IGL01893:Glipr1l1	APN	10	112076169	missense	probably benign	0.06
IGL03309:Glipr1l1	APN	10	112072236	splice site	probably benign
P0031:Glipr1l1	UTSW	10	112060387	missense	probably benign
R0987:Glipr1l1	UTSW	10	112078435	missense	probably benign
R0992:Glipr1l1	UTSW	10	112062325	missense	probably benign
R2136:Glipr1l1	UTSW	10	112060476	missense	probably damaging	1.00
R2248:Glipr1l1	UTSW	10	112062287	missense	probably benign	0.09
R4297:Glipr1l1	UTSW	10	112062347	missense	probably benign	0.05
R4298:Glipr1l1	UTSW	10	112062347	missense	probably benign	0.05
R4569:Glipr1l1	UTSW	10	112062412	missense	probably benign	0.00
R5015:Glipr1l1	UTSW	10	112078374	missense	probably benign	0.00
R5552:Glipr1l1	UTSW	10	112062338	missense	probably benign	0.00
R5629:Glipr1l1	UTSW	10	112078403	missense	possibly damaging	0.90
R6061:Glipr1l1	UTSW	10	112076170	missense	probably benign	0.32
R6237:Glipr1l1	UTSW	10	112060427	nonsense	probably null
R6519:Glipr1l1	UTSW	10	112062248	missense	probably benign	0.02
R6913:Glipr1l1	UTSW	10	112062434	critical splice donor site	probably null
R7621:Glipr1l1	UTSW	10	112060395	missense	probably benign	0.00
R8171:Glipr1l1	UTSW	10	112078384	missense	probably benign	0.01
R9182:Glipr1l1	UTSW	10	112076151	missense	probably damaging	1.00
R9319:Glipr1l1	UTSW	10	112062217	missense	probably damaging	1.00
R9508:Glipr1l1	UTSW	10	112076110	missense	probably damaging	0.98
X0023:Glipr1l1	UTSW	10	112078439	missense	probably damaging	0.98
Z1177:Glipr1l1	UTSW	10	112078390	missense	probably benign	0.00

Posted On

2015-04-16