Mutagenetix > Incidental Mutation

Incidental Mutation 'R6486:Gpbp1l1'

517328

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6486 (G1)

Quality Score

113.008

Status

Validated

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116581375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 223 (K223E)

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030460] [ENSMUST00000106475]

AlphaFold

Q6NZP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030460
AA Change: K223E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: K223E

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	376	470	5.1e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106475
AA Change: K223E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: K223E

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	377	470	1.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138837

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1d	T	A	14: 30,114,233	M853L	probably benign	Het
Cacna2d1	C	T	5: 16,319,450		probably null	Het
Capg	G	T	6: 72,557,750	E187*	probably null	Het
Carns1	C	T	19: 4,169,980	A419T	probably benign	Het
Cpt1b	A	G	15: 89,420,824	M407T	probably benign	Het
Dlg2	A	T	7: 91,872,374		probably null	Het
Ep400	T	C	5: 110,697,218		probably benign	Het
Epha4	T	C	1: 77,383,549	N704D	probably damaging	Het
Gga2	A	G	7: 122,002,188	S231P	probably damaging	Het
Homer1	A	T	13: 93,391,725	N78I	possibly damaging	Het
Lmbr1	C	T	5: 29,323,861	V122M	probably damaging	Het
Mpeg1	C	A	19: 12,462,105	A309E	probably damaging	Het
Myo18a	A	G	11: 77,864,822	E1713G	possibly damaging	Het
Neto1	A	G	18: 86,461,246	I186M	probably benign	Het
Nfasc	T	C	1: 132,605,214	D668G	probably damaging	Het
Nlrc5	T	C	8: 94,521,299		probably null	Het
Olfr1489	T	G	19: 13,633,691	N193K	probably damaging	Het
Olfr251	G	A	9: 38,377,904	V2I	probably benign	Het
Olfr339	A	T	2: 36,421,544	I49F	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Prkdc	T	C	16: 15,752,764	S2304P	probably damaging	Het
Sgsm3	T	C	15: 81,011,345	I699T	probably damaging	Het
Slc8b1	T	C	5: 120,533,002	F551S	probably damaging	Het
Stra6	TC	T	9: 58,151,422		probably null	Het
Tlr3	T	C	8: 45,398,613		probably null	Het
Tnfrsf22	T	C	7: 143,640,756	T145A	possibly damaging	Het
Trp63	A	T	16: 25,865,340	T326S	probably damaging	Het
Unc45a	C	G	7: 80,339,652	E23Q	probably benign	Het
Vmn1r234	A	T	17: 21,229,342	M173L	probably benign	Het
Vmn2r13	T	G	5: 109,156,559	I669L	probably benign	Het
Vwa5a	G	A	9: 38,733,878	G420R	probably null	Het

Other mutations in Gpbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Gpbp1l1	APN	4	116587513	critical splice donor site	probably null
IGL03342:Gpbp1l1	APN	4	116574543	missense	probably benign
R0534:Gpbp1l1	UTSW	4	116591268	missense	probably damaging	1.00
R0964:Gpbp1l1	UTSW	4	116581239	splice site	probably benign
R1136:Gpbp1l1	UTSW	4	116592918	missense	probably damaging	1.00
R1169:Gpbp1l1	UTSW	4	116574366	missense	possibly damaging	0.53
R3975:Gpbp1l1	UTSW	4	116570985	critical splice donor site	probably null
R4296:Gpbp1l1	UTSW	4	116587459	missense	possibly damaging	0.80
R4676:Gpbp1l1	UTSW	4	116590265	missense	probably damaging	1.00
R4870:Gpbp1l1	UTSW	4	116573517	missense	probably benign
R5086:Gpbp1l1	UTSW	4	116588592	missense	probably benign	0.04
R5931:Gpbp1l1	UTSW	4	116590260	missense	probably benign	0.00
R6604:Gpbp1l1	UTSW	4	116573505	missense	probably benign	0.09
R6973:Gpbp1l1	UTSW	4	116581282	missense	possibly damaging	0.53
R7031:Gpbp1l1	UTSW	4	116592848	missense	probably damaging	1.00
R7230:Gpbp1l1	UTSW	4	116588610	missense	probably damaging	0.99
R7286:Gpbp1l1	UTSW	4	116590245	missense	probably benign	0.02
R7368:Gpbp1l1	UTSW	4	116573458	missense	probably benign	0.04
R7791:Gpbp1l1	UTSW	4	116574420	missense	probably damaging	1.00
R9475:Gpbp1l1	UTSW	4	116574361	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TCATCTCCTATGTTGAAGGTGAGG -3'
(R):5'- ACTGGCAGAGTCTGGTAATGG -3'

Sequencing Primer
(F):5'- TGAAGGTGAGGATGTTGTTTAAAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2018-05-21