Mutagenetix > Incidental Mutation

Incidental Mutation 'R4298:Glipr1l1'

323433

Institutional Source

Beutler Lab

Gene Symbol

Glipr1l1

Ensembl Gene

ENSMUSG00000020213

Gene Name

GLI pathogenesis-related 1 like 1

Synonyms

1700011E04Rik

MMRRC Submission

041086-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R4298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111896094-111914415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111898252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 119 (D119V)

Ref Sequence

ENSEMBL: ENSMUSP00000073302 (fasta)

Gene Model

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

AlphaFold

Q9DAG6

Predicted Effect

probably benign
Transcript: ENSMUST00000073617
AA Change: D119V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: D119V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Ccser2	T	A	14: 36,612,337 (GRCm39)	Q158L	possibly damaging	Het
Cct7	T	A	6: 85,445,155 (GRCm39)	C469S	probably damaging	Het
Chmp7	A	T	14: 69,956,650 (GRCm39)		probably null	Het
Clcn4	C	T	7: 7,299,737 (GRCm39)	D31N	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,493,172 (GRCm39)	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,389,889 (GRCm39)	L498P	probably damaging	Het
Dsc3	A	T	18: 20,113,811 (GRCm39)	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Ebf3	C	T	7: 136,826,958 (GRCm39)	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,947,962 (GRCm39)		probably null	Het
Erich6	G	T	3: 58,531,712 (GRCm39)	A428D	probably benign	Het
Ext1	A	T	15: 53,208,521 (GRCm39)	I80N	probably benign	Het
Extl1	T	C	4: 134,084,969 (GRCm39)	E667G	probably damaging	Het
F2	T	G	2: 91,459,665 (GRCm39)		probably null	Het
Fbxw16	T	C	9: 109,275,625 (GRCm39)	I135V	probably benign	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,882 (GRCm39)	R252H	possibly damaging	Het
Lyst	A	G	13: 13,809,472 (GRCm39)	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,298,444 (GRCm39)	V97D	possibly damaging	Het
Nefh	A	G	11: 4,890,066 (GRCm39)	I851T	probably benign	Het
Nf1	A	T	11: 79,275,070 (GRCm39)	I44F	probably damaging	Het
Nyap2	A	T	1: 81,218,811 (GRCm39)	I278F	probably damaging	Het
Or4c52	A	T	2: 89,845,993 (GRCm39)	T240S	probably benign	Het
Or4f7d-ps1	G	T	2: 111,674,789 (GRCm39)		noncoding transcript	Het
Pdcd4	C	A	19: 53,908,092 (GRCm39)	P201Q	probably damaging	Het
Pramel16	A	T	4: 143,675,713 (GRCm39)	L371*	probably null	Het
Prdm11	T	C	2: 92,823,728 (GRCm39)	T179A	probably benign	Het
Qrfpr	T	A	3: 36,243,703 (GRCm39)	I133F	probably damaging	Het
Rack1	T	C	11: 48,692,453 (GRCm39)		probably benign	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rrs1	C	T	1: 9,616,448 (GRCm39)	R234C	possibly damaging	Het
Sag	G	C	1: 87,772,737 (GRCm39)	D402H	probably benign	Het
Sbk3	T	A	7: 4,972,979 (GRCm39)	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3gl1	C	T	17: 56,326,173 (GRCm39)	G111D	probably damaging	Het
Spata20	G	A	11: 94,373,914 (GRCm39)	R379W	probably damaging	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stk39	C	T	2: 68,221,284 (GRCm39)	G213D	probably damaging	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Taf1d	T	C	9: 15,219,939 (GRCm39)	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,554,394 (GRCm39)	A30807D	probably damaging	Het
Unc119	A	G	11: 78,238,948 (GRCm39)	N158S	probably damaging	Het
Vmn2r116	T	A	17: 23,620,801 (GRCm39)	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,309,997 (GRCm39)	V87A	probably damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		probably null	Het

Other mutations in Glipr1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Glipr1l1	APN	10	111,914,286 (GRCm39)	missense	probably benign	0.02
IGL01660:Glipr1l1	APN	10	111,908,184 (GRCm39)	missense	probably damaging	0.97
IGL01893:Glipr1l1	APN	10	111,912,074 (GRCm39)	missense	probably benign	0.06
IGL02576:Glipr1l1	APN	10	111,896,224 (GRCm39)	missense	possibly damaging	0.77
IGL03309:Glipr1l1	APN	10	111,908,141 (GRCm39)	splice site	probably benign
P0031:Glipr1l1	UTSW	10	111,896,292 (GRCm39)	missense	probably benign
R0987:Glipr1l1	UTSW	10	111,914,340 (GRCm39)	missense	probably benign
R0992:Glipr1l1	UTSW	10	111,898,230 (GRCm39)	missense	probably benign
R2136:Glipr1l1	UTSW	10	111,896,381 (GRCm39)	missense	probably damaging	1.00
R2248:Glipr1l1	UTSW	10	111,898,192 (GRCm39)	missense	probably benign	0.09
R4297:Glipr1l1	UTSW	10	111,898,252 (GRCm39)	missense	probably benign	0.05
R4569:Glipr1l1	UTSW	10	111,898,317 (GRCm39)	missense	probably benign	0.00
R5015:Glipr1l1	UTSW	10	111,914,279 (GRCm39)	missense	probably benign	0.00
R5552:Glipr1l1	UTSW	10	111,898,243 (GRCm39)	missense	probably benign	0.00
R5629:Glipr1l1	UTSW	10	111,914,308 (GRCm39)	missense	possibly damaging	0.90
R6061:Glipr1l1	UTSW	10	111,912,075 (GRCm39)	missense	probably benign	0.32
R6237:Glipr1l1	UTSW	10	111,896,332 (GRCm39)	nonsense	probably null
R6519:Glipr1l1	UTSW	10	111,898,153 (GRCm39)	missense	probably benign	0.02
R6913:Glipr1l1	UTSW	10	111,898,339 (GRCm39)	critical splice donor site	probably null
R7621:Glipr1l1	UTSW	10	111,896,300 (GRCm39)	missense	probably benign	0.00
R8171:Glipr1l1	UTSW	10	111,914,289 (GRCm39)	missense	probably benign	0.01
R9182:Glipr1l1	UTSW	10	111,912,056 (GRCm39)	missense	probably damaging	1.00
R9319:Glipr1l1	UTSW	10	111,898,122 (GRCm39)	missense	probably damaging	1.00
R9508:Glipr1l1	UTSW	10	111,912,015 (GRCm39)	missense	probably damaging	0.98
X0023:Glipr1l1	UTSW	10	111,914,344 (GRCm39)	missense	probably damaging	0.98
Z1177:Glipr1l1	UTSW	10	111,914,295 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTAACCATGCCTGTCCC -3'
(R):5'- TGGAATCCCCATTAAGAGGAGG -3'

Sequencing Primer
(F):5'- ATGCCTGTCCCCTCTGAAATGG -3'
(R):5'- GCCAAGTACATACCTGTGT -3'

Posted On

2015-06-20