Mutagenetix > Incidental Mutation

Incidental Mutation 'R6237:Glipr1l1'

505007

Institutional Source

Beutler Lab

Gene Symbol

Glipr1l1

Ensembl Gene

ENSMUSG00000020213

Gene Name

GLI pathogenesis-related 1 like 1

Synonyms

1700011E04Rik

MMRRC Submission

044362-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112060189-112078510 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 112060427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 40 (K40*)

Ref Sequence

ENSEMBL: ENSMUSP00000073302 (fasta)

Gene Model

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

AlphaFold

Q9DAG6

Predicted Effect

probably null
Transcript: ENSMUST00000073617
AA Change: K40*

SMART Domains

Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: K40*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 119,615,763	R380H	probably damaging	Het
Akr1c12	C	A	13: 4,275,768	D109Y	possibly damaging	Het
Cacna1s	A	T	1: 136,105,844	M1020L	possibly damaging	Het
Cbx8	C	A	11: 119,040,387	R25L	possibly damaging	Het
Ccdc87	A	G	19: 4,841,379	Y633C	probably benign	Het
Col4a4	C	T	1: 82,507,031	S505N	unknown	Het
Cr2	T	A	1: 195,157,502	H539L	probably damaging	Het
Cyp2b9	T	A	7: 26,173,574	D47E	probably benign	Het
Dnah3	A	C	7: 120,009,384	M1784R	probably damaging	Het
Dnah8	T	A	17: 30,747,854	L2520*	probably null	Het
E2f2	A	G	4: 136,178,485	E103G	possibly damaging	Het
Eef1akmt3	T	A	10: 127,033,008	H199L	possibly damaging	Het
Faxc	A	T	4: 21,993,376	N340I	possibly damaging	Het
Fer1l6	A	T	15: 58,625,177	R1199*	probably null	Het
Fer1l6	A	G	15: 58,638,006	D1439G	probably damaging	Het
Galnt5	G	T	2: 58,035,249	W847C	probably damaging	Het
Gbp2	G	A	3: 142,632,032	S303N	probably benign	Het
Gm4353	A	C	7: 116,083,899	L149R	possibly damaging	Het
Grk5	A	G	19: 61,089,942	D479G	probably damaging	Het
Gzmc	T	A	14: 56,234,029		probably null	Het
Hace1	T	C	10: 45,648,890	Y251H	probably benign	Het
Hhla1	G	T	15: 65,941,797	P229T	probably damaging	Het
Hspa1l	C	T	17: 34,977,452	Q156*	probably null	Het
Igkv4-78	A	T	6: 69,059,699	Y117N	probably benign	Het
Ikzf3	C	A	11: 98,467,053	R486L	probably damaging	Het
Itpr1	C	T	6: 108,378,203	T485M	possibly damaging	Het
Kcnab3	T	C	11: 69,328,575	Y131H	probably benign	Het
Kcnu1	C	T	8: 25,932,334	P209L	probably benign	Het
Klk8	T	A	7: 43,798,670	C39*	probably null	Het
Mbtps1	A	G	8: 119,528,961	L519P	probably damaging	Het
Mgat4a	A	G	1: 37,456,592	I287T	probably damaging	Het
Mindy2	T	C	9: 70,605,198	E590G	possibly damaging	Het
Mllt11	G	T	3: 95,220,291	T56K	probably benign	Het
Myo5b	G	A	18: 74,742,178	R1551H	probably damaging	Het
Nmrk2	T	C	10: 81,200,962	T16A	possibly damaging	Het
Olfr324	T	A	11: 58,598,005	F203Y	probably damaging	Het
Olfr862	G	T	9: 19,884,069	P79T	probably damaging	Het
Osbpl9	T	C	4: 109,156,702	D65G	probably damaging	Het
Phf2	T	A	13: 48,803,655	K1079*	probably null	Het
Plcb1	A	G	2: 135,370,566	S1026G	possibly damaging	Het
Pnrc2	A	T	4: 135,872,086	H117Q	probably benign	Het
Ppfia2	A	T	10: 106,913,594	I1114F	probably damaging	Het
Rpl12	G	A	2: 32,962,988	E72K	probably benign	Het
Sbf1	C	T	15: 89,293,476	R1642H	probably benign	Het
Sephs2	G	A	7: 127,273,946		probably benign	Het
Slc35c2	A	T	2: 165,280,697	L194H	probably damaging	Het
Slfn4	T	A	11: 83,189,112	Y150N	probably damaging	Het
Srbd1	T	C	17: 85,985,295	R949G	probably damaging	Het
Urah	T	A	7: 140,835,705	S28T	probably damaging	Het
Wdr62	A	G	7: 30,242,435	S649P	probably damaging	Het
Wnk1	C	A	6: 119,952,767	G1263V	probably damaging	Het
Zbtb4	C	A	11: 69,778,243	D114E	possibly 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
IGL02576:Glipr1l1	APN	10	112060319	missense	possibly damaging	0.77
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTGCCTTGAACACATTCC -3'
(R):5'- AGGAGTCAAGGGTGATTCTTTC -3'

Sequencing Primer
(F):5'- TTGAACACATTCCCCAGGCTAATG -3'
(R):5'- TTCTTCTGAGGGGGAAAAATGCATC -3'

Posted On

2018-02-28