Mutagenetix > Incidental Mutation

Incidental Mutation 'R1136:Gpbp1l1'

94976

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

MMRRC Submission

039209-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1136 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116592918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 461 (T461M)

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030460] [ENSMUST00000051869] [ENSMUST00000106475]

AlphaFold

Q6NZP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030460
AA Change: T461M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: T461M

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: ENSMUST00000051869

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035

Domain	Start	End	E-Value	Type
coiled coil region	97	161	N/A	INTRINSIC
coiled coil region	219	270	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106475
AA Change: T461M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: T461M

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: ENSMUST00000121907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	C	T	13: 68,730,317	G401S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Bmp2	T	C	2: 133,560,927	F133L	probably damaging	Het
C1qtnf3	A	G	15: 10,978,584	E290G	probably damaging	Het
Ccdc180	C	A	4: 45,914,589	D701E	probably benign	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Csmd3	A	T	15: 47,675,817	I1508N	probably damaging	Het
Dgkh	T	C	14: 78,624,889	R80G	probably damaging	Het
Dock1	T	A	7: 134,848,173	V805D	possibly damaging	Het
Eef2	C	CN	10: 81,178,769		probably null	Het
Ercc6l2	T	A	13: 63,869,120	V679D	possibly damaging	Het
Esp6	T	C	17: 40,565,393	Y111H	probably benign	Het
Focad	T	C	4: 88,326,180	F799S	unknown	Het
Foxred1	C	A	9: 35,205,037	M438I	probably benign	Het
Galnt11	T	G	5: 25,258,945	V405G	probably damaging	Het
Gm4847	A	G	1: 166,630,366	Y473H	probably damaging	Het
Hnrnpu	A	T	1: 178,331,225		probably benign	Het
Kmt2d	A	T	15: 98,857,765		probably benign	Het
Matr3	A	G	18: 35,572,895	H291R	probably damaging	Het
Mfsd14b	C	T	13: 65,095,692	S46N	probably benign	Het
Mtch1	C	T	17: 29,333,770		probably null	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mylk	T	C	16: 35,000,318	I1880T	probably damaging	Het
N4bp2	T	C	5: 65,808,472	L1288P	probably damaging	Het
Ncf2	A	T	1: 152,830,372	H245L	probably damaging	Het
Nmd3	T	A	3: 69,746,716		probably benign	Het
Npdc1	G	T	2: 25,407,715	A127S	probably benign	Het
Nudt3	C	A	17: 27,623,106	R27L	probably benign	Het
Nwd1	C	T	8: 72,697,769		probably benign	Het
Papd4	C	T	13: 93,175,697		probably null	Het
Pex7	T	A	10: 19,888,688	I170F	probably benign	Het
Phyhipl	A	G	10: 70,569,072	V57A	probably damaging	Het
Pkhd1	G	A	1: 20,522,829	P1687S	possibly damaging	Het
Plekhj1	A	T	10: 80,797,820		probably null	Het
Prss21	T	A	17: 23,872,994	L312H	probably damaging	Het
Samsn1	T	C	16: 75,873,520	I232V	probably null	Het
Sec63	A	T	10: 42,806,546	D411V	probably damaging	Het
Slc44a4	C	T	17: 34,928,022	H343Y	probably damaging	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tmtc3	A	G	10: 100,472,043		probably benign	Het
Trafd1	C	T	5: 121,373,324	R477H	possibly damaging	Het
Uhrf2	T	A	19: 30,056,226		probably benign	Het
Vmn2r68	T	A	7: 85,222,341	D578V	possibly damaging	Het
Wdcp	G	A	12: 4,851,655	V504I	possibly damaging	Het
Wdr93	T	C	7: 79,773,448	Y487H	probably damaging	Het
Zfp457	T	C	13: 67,293,782	H147R	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
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'- GAATTCCCCTCCACATACTCCTCTAGAC -3'
(R):5'- TGCCCTGACAGCTCCCACTT -3'

Sequencing Primer
(F):5'- ATGGCCTCTTACAAAGCCGT -3'
(R):5'- AAGACAATTGCTCTCTCTTTGGG -3'

Posted On

2014-01-05