Mutagenetix > Incidental Mutation

Incidental Mutation 'R6604:Gpbp1l1'

525525

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

MMRRC Submission

044727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6604 (G1)

Quality Score

140.008

Status

Not validated

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116573505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 58 (P58S)

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

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

AlphaFold

Q6NZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000030460
AA Change: P58S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: P58S

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 benign
Transcript: ENSMUST00000106475
AA Change: P58S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: P58S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,439,579		probably benign	Het
Abca13	T	G	11: 9,378,384	F3486V	probably damaging	Het
Adcy9	A	G	16: 4,304,407	L830P	probably damaging	Het
Aurkb	T	A	11: 69,048,562	L157*	probably null	Het
Bbs10	T	G	10: 111,301,104	L693V	possibly damaging	Het
Dna2	G	T	10: 62,967,743		probably null	Het
Ext1	A	G	15: 53,083,159	F550L	probably damaging	Het
Gm11639	T	A	11: 104,698,946	L123*	probably null	Het
Gm13101	T	C	4: 143,965,997	R145G	probably benign	Het
Gm5129	A	G	5: 29,735,767		probably benign	Het
Golm1	A	G	13: 59,638,383	Y332H	probably damaging	Het
Grk4	A	T	5: 34,719,864	D301V	probably damaging	Het
Haus1	T	C	18: 77,764,097	E106G	probably damaging	Het
Hpd	T	C	5: 123,180,901		probably null	Het
Kcnj6	C	A	16: 94,762,645	E313D	probably damaging	Het
Lmna	A	G	3: 88,488,282	V57A	probably damaging	Het
Lrrtm1	T	C	6: 77,244,238	F226S	possibly damaging	Het
Otogl	T	C	10: 107,822,034		probably null	Het
Pgr	A	C	9: 8,946,866	T703P	possibly damaging	Het
Ppig	T	C	2: 69,741,581	S215P	unknown	Het
Rasgrp3	A	C	17: 75,503,115	N270T	probably benign	Het
Rp1	C	A	1: 4,019,128	K1305N	unknown	Het
Shc1	A	G	3: 89,421,879	Y10C	probably damaging	Het
Slc12a1	G	T	2: 125,184,815	D457Y	probably damaging	Het
Sncaip	A	G	18: 52,905,846	Q544R	possibly damaging	Het
Socs5	T	C	17: 87,135,125	Y498H	probably damaging	Het
Szt2	T	C	4: 118,385,474	D1472G	probably benign	Het
Tmem163	A	G	1: 127,491,610	M286T	possibly damaging	Het
Tmem236	A	G	2: 14,174,701	T38A	probably benign	Het
Vmn2r29	A	T	7: 7,231,859	V676E	probably damaging	Het
Vps13d	A	G	4: 145,181,124	V56A	probably damaging	Het
Xirp2	T	C	2: 67,509,845	I810T	possibly damaging	Het
Zfp958	T	C	8: 4,628,245	L90P	probably damaging	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
R6486:Gpbp1l1	UTSW	4	116581375	missense	probably damaging	0.99
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'- AGCCCAATAAGCTACTGAAGG -3'
(R):5'- CCAGTCTGAGTTTAGTGTAAATAGCAC -3'

Sequencing Primer
(F):5'- CTGAAGGAAACTGAATCTTTTCCTC -3'
(R):5'- CTGGTCTACAAGTGAGTTCCAGGAC -3'

Posted On

2018-06-22