Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Gpbp1l1'

81458

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

MMRRC Submission

039093-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0964 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 116581239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

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

AlphaFold

Q6NZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000030460

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042

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

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042

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: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Acacb	A	T	5: 114,229,752	M1604L	possibly damaging	Het
Acpp	A	G	9: 104,326,975	V40A	possibly damaging	Het
Adgrl1	T	C	8: 83,934,412		probably benign	Het
Alppl2	C	T	1: 87,087,724	V372I	possibly damaging	Het
Apol8	C	T	15: 77,749,611	S255N	probably benign	Het
Atp8b4	A	T	2: 126,337,493	F973I	probably damaging	Het
Bbs4	A	G	9: 59,322,976	*150Q	probably null	Het
Cacna1h	A	T	17: 25,378,775		probably benign	Het
Ccser2	C	T	14: 36,909,008		probably benign	Het
Chd9	A	G	8: 91,015,204	E1607G	probably benign	Het
Clca4b	A	G	3: 144,915,576	I579T	probably benign	Het
Col20a1	T	A	2: 180,984,485		probably benign	Het
Creg2	T	C	1: 39,624,976	I205V	probably benign	Het
Cyr61	C	A	3: 145,647,748	C353F	probably damaging	Het
Ddx24	C	T	12: 103,423,907	R275H	probably damaging	Het
Dip2c	G	A	13: 9,568,663	A579T	probably benign	Het
Dnah3	T	C	7: 119,952,739		probably benign	Het
Dnah8	G	A	17: 30,673,920		probably null	Het
Gckr	T	C	5: 31,326,915		probably benign	Het
Hmcn2	A	G	2: 31,391,511	T1913A	probably benign	Het
Lmo7	T	C	14: 101,920,567		probably benign	Het
Meioc	G	A	11: 102,680,031	V863I	probably damaging	Het
Myh1	A	G	11: 67,205,925	I341V	probably benign	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Myh13	A	G	11: 67,345,002	T664A	probably benign	Het
Myo3b	A	C	2: 70,426,849	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,547,899		probably null	Het
Nr3c2	A	G	8: 76,908,668		probably null	Het
Nxpe5	T	C	5: 138,239,924	S249P	probably damaging	Het
Olfr1008	A	G	2: 85,690,365	N312S	probably benign	Het
Olfr460	T	C	6: 40,572,205	V273A	probably benign	Het
Olfr67	C	T	7: 103,787,397	M293I	probably benign	Het
Pitpnm3	G	A	11: 72,058,470	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,395,082	E176*	probably null	Het
Prdm11	C	A	2: 92,989,222		probably benign	Het
Prodh2	C	A	7: 30,506,281	R218S	probably damaging	Het
Rps15a	T	C	7: 118,114,837	D54G	probably benign	Het
Sbno2	G	T	10: 80,084,259	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,806,417		probably benign	Het
Sema3c	T	C	5: 17,721,909	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,225,954		probably benign	Het
Spaca6	A	T	17: 17,838,391	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,036,438	L66I	probably damaging	Het
Srsf3	T	A	17: 29,036,439	L66Q	probably damaging	Het
Syne1	T	C	10: 5,043,652	T8363A	possibly damaging	Het
Trmt1	T	A	8: 84,696,852	L298Q	probably damaging	Het
Uba6	T	C	5: 86,119,401	I923V	possibly damaging	Het
Uhrf1bp1	A	T	17: 27,887,178	T893S	probably damaging	Het
Vmn2r106	G	A	17: 20,267,597	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,297,535	T8A	probably benign	Het
Zbtb39	C	G	10: 127,742,306	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,439,031	F583V	probably damaging	Het
Zfp938	T	A	10: 82,225,419	I456F	probably benign	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
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
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'- GGGTTCTTAAGCTCATATACCCGTGC -3'
(R):5'- GCAACTCATACCTTAGAGGGAGGTGG -3'

Sequencing Primer
(F):5'- cgtgcttgcatggtaaacac -3'
(R):5'- CTTAGGCACCAAGTTCTTATAGACAC -3'

Posted On

2013-11-07