Mutagenetix > Incidental Mutation

Incidental Mutation 'R9319:Glipr1l1'

706049

Institutional Source

Beutler Lab

Gene Symbol

Glipr1l1

Ensembl Gene

ENSMUSG00000020213

Gene Name

GLI pathogenesis-related 1 like 1

Synonyms

1700011E04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111896094-111914415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111898122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 76 (A76S)

Ref Sequence

ENSEMBL: ENSMUSP00000073302 (fasta)

Gene Model

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

AlphaFold

Q9DAG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000073617
AA Change: A76S

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

SMART Domains

Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: A76S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,446 (GRCm39)	D811G	probably damaging	Het
Akap13	A	G	7: 75,258,836 (GRCm39)	T487A	probably benign	Het
Ankrd6	C	T	4: 32,806,324 (GRCm39)	S643N	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Camk2b	G	T	11: 5,927,814 (GRCm39)	P489Q	probably benign	Het
Cd22	T	A	7: 30,569,329 (GRCm39)	N596Y	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cobl	A	T	11: 12,203,648 (GRCm39)	V1018E	probably benign	Het
Cttn	T	C	7: 144,017,100 (GRCm39)	E34G	probably damaging	Het
Dhx15	G	A	5: 52,342,193 (GRCm39)	R42*	probably null	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dlst	G	T	12: 85,170,585 (GRCm39)	R238L	probably damaging	Het
Dnah7c	A	G	1: 46,521,168 (GRCm39)	E232G	possibly damaging	Het
Dsg1b	C	T	18: 20,531,004 (GRCm39)	Q452*	probably null	Het
Elovl3	A	G	19: 46,122,507 (GRCm39)	T102A	possibly damaging	Het
Epas1	A	G	17: 87,104,545 (GRCm39)	S10G	possibly damaging	Het
Fads2b	G	A	2: 85,320,757 (GRCm39)	R349C	probably damaging	Het
Fanca	T	C	8: 124,018,190 (GRCm39)	I613V	probably benign	Het
Fat1	T	A	8: 45,406,060 (GRCm39)	V937D	probably damaging	Het
Ino80	T	C	2: 119,205,005 (GRCm39)	D1507G	probably benign	Het
Ipo13	T	C	4: 117,769,585 (GRCm39)	D69G	probably benign	Het
Kif2c	T	C	4: 117,035,445 (GRCm39)		probably null	Het
Lrrc61	C	A	6: 48,545,228 (GRCm39)	T17K	probably damaging	Het
Ltk	C	A	2: 119,590,096 (GRCm39)	E43D	probably benign	Het
Mcm3ap	A	G	10: 76,318,638 (GRCm39)	T720A	probably damaging	Het
Mcoln2	T	A	3: 145,875,691 (GRCm39)	V81D	probably damaging	Het
Mturn	T	A	6: 54,658,780 (GRCm39)	V9D	probably benign	Het
Nrg1	T	C	8: 32,323,204 (GRCm39)	D249G	probably benign	Het
Ntng2	T	C	2: 29,091,121 (GRCm39)		probably benign	Het
Odad3	T	C	9: 21,906,203 (GRCm39)	D245G	probably damaging	Het
Pax3	T	A	1: 78,080,079 (GRCm39)	M436L	probably benign	Het
Pias4	G	A	10: 80,991,750 (GRCm39)	P53S	unknown	Het
Pkhd1l1	C	T	15: 44,392,974 (GRCm39)	R1770C	possibly damaging	Het
Plk1	C	A	7: 121,768,122 (GRCm39)	D447E	probably damaging	Het
Rsph10b	A	C	5: 143,903,337 (GRCm39)	M611L	probably benign	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Snrnp40	T	C	4: 130,256,545 (GRCm39)	L90P	possibly damaging	Het
Snu13	T	C	15: 81,928,218 (GRCm39)	T2A	probably benign	Het
Sptlc3	C	T	2: 139,478,730 (GRCm39)	A563V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmx3	A	G	18: 90,558,068 (GRCm39)	I373M	probably benign	Het
Tpbg	C	T	9: 85,725,991 (GRCm39)		probably benign	Het
Troap	T	C	15: 98,975,444 (GRCm39)	I176T	probably benign	Het
Trpm2	G	A	10: 77,778,776 (GRCm39)	Q397*	probably null	Het
Trpm2	A	T	10: 77,785,032 (GRCm39)	V196E	probably damaging	Het
Vac14	T	A	8: 111,361,018 (GRCm39)	I196N	probably damaging	Het
Vmn2r71	C	T	7: 85,273,694 (GRCm39)	P836L	probably damaging	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
R4298: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
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'- GTCCCCTCTGAAATGGTGTTTC -3'
(R):5'- TGGCCACACATTTCAGAACAGG -3'

Sequencing Primer
(F):5'- CTTCTGTTTCTTTCAGGTGTTTGC -3'
(R):5'- CAACATCTTCTGGTTGGGT -3'

Posted On

2022-03-25