Mutagenetix > Incidental Mutation

Incidental Mutation 'R7031:Gpbp1l1'

546314

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

5330440M15Rik

MMRRC Submission

045132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116414855-116451079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116450045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 438 (R438C)

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: R438C

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

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: R438C

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: R438C

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

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: R438C

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,833,058 (GRCm39)	N39S	probably benign	Het
Abca13	C	T	11: 9,571,892 (GRCm39)	R4818C	probably damaging	Het
Acadsb	A	G	7: 131,045,366 (GRCm39)	I433V	probably benign	Het
Acsl3	T	A	1: 78,666,000 (GRCm39)	I142N	probably benign	Het
Api5	G	A	2: 94,255,961 (GRCm39)	T242M	probably benign	Het
Brme1	C	A	8: 84,893,313 (GRCm39)	P160Q	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,323 (GRCm39)	E37G	probably damaging	Het
Cfap96	T	C	8: 46,421,140 (GRCm39)	I128V	probably benign	Het
Cntnap4	C	A	8: 113,584,874 (GRCm39)	Q1104K	probably benign	Het
Cry1	A	G	10: 84,984,526 (GRCm39)	S183P	probably benign	Het
Cuzd1	A	T	7: 130,910,580 (GRCm39)	F572I	probably benign	Het
Dcbld1	A	T	10: 52,166,985 (GRCm39)	D104V	probably damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dhx15	T	C	5: 52,341,931 (GRCm39)	D129G	probably benign	Het
Drd3	T	A	16: 43,582,861 (GRCm39)	V86E	probably damaging	Het
Ebf1	A	G	11: 44,512,795 (GRCm39)	T135A	possibly damaging	Het
Epha5	T	C	5: 84,290,159 (GRCm39)	I428V	probably benign	Het
Epx	T	A	11: 87,766,349 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,627,227 (GRCm39)	N305K	probably benign	Het
Gchfr	T	A	2: 119,000,236 (GRCm39)	V39D	probably benign	Het
Ggnbp2	A	G	11: 84,751,467 (GRCm39)	L111P	probably damaging	Het
Gnal	G	A	18: 67,355,659 (GRCm39)	G340D	probably damaging	Het
Gpat2	A	G	2: 127,277,395 (GRCm39)	E745G	probably damaging	Het
Hmgxb4	C	T	8: 75,756,200 (GRCm39)	Q171*	probably null	Het
Igkv4-91	G	T	6: 68,745,542 (GRCm39)	R119S	possibly damaging	Het
Ing2	T	C	8: 48,121,858 (GRCm39)	D230G	probably benign	Het
Itfg2	A	G	6: 128,393,017 (GRCm39)	V82A	probably damaging	Het
Klhl22	T	C	16: 17,594,890 (GRCm39)	S340P	probably damaging	Het
Lipm	A	T	19: 34,093,871 (GRCm39)	M263L	probably benign	Het
Ly96	A	T	1: 16,758,787 (GRCm39)	E19V	possibly damaging	Het
Mark1	C	T	1: 184,644,829 (GRCm39)	E376K	possibly damaging	Het
Mlip	T	A	9: 77,045,835 (GRCm39)	M375L	probably benign	Het
Mug1	A	T	6: 121,815,673 (GRCm39)	N26Y	probably benign	Het
Or2ad1	C	T	13: 21,327,170 (GRCm39)	S19N	probably benign	Het
Or55b3	T	A	7: 102,127,057 (GRCm39)	T7S	probably benign	Het
Or5m3	C	T	2: 85,838,939 (GRCm39)	A273V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rb1cc1	T	C	1: 6,308,690 (GRCm39)		probably null	Het
Rgs4	T	C	1: 169,571,336 (GRCm39)	T178A	probably benign	Het
Sel1l2	T	A	2: 140,182,043 (GRCm39)	K31N	possibly damaging	Het
Serpinf1	T	C	11: 75,301,022 (GRCm39)	R398G	probably damaging	Het
Sgo2b	C	T	8: 64,393,078 (GRCm39)	E120K	possibly damaging	Het
Stard9	T	C	2: 120,530,931 (GRCm39)	F2396S	possibly damaging	Het
Trgv6	G	A	13: 19,374,610 (GRCm39)	E25K	probably benign	Het
Trpc3	A	C	3: 36,675,459 (GRCm39)	I893S	probably benign	Het
Trpc4ap	C	A	2: 155,534,135 (GRCm39)	R31L	unknown	Het
Vat1l	A	G	8: 114,998,172 (GRCm39)	R239G	possibly damaging	Het
Vmn1r56	T	A	7: 5,199,261 (GRCm39)	R119*	probably null	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het
Zfp664	A	G	5: 124,963,070 (GRCm39)	T155A	probably benign	Het

Other mutations in Gpbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Gpbp1l1	APN	4	116,444,710 (GRCm39)	critical splice donor site	probably null
IGL03342:Gpbp1l1	APN	4	116,431,740 (GRCm39)	missense	probably benign
R0534:Gpbp1l1	UTSW	4	116,448,465 (GRCm39)	missense	probably damaging	1.00
R0964:Gpbp1l1	UTSW	4	116,438,436 (GRCm39)	splice site	probably benign
R1136:Gpbp1l1	UTSW	4	116,450,115 (GRCm39)	missense	probably damaging	1.00
R1169:Gpbp1l1	UTSW	4	116,431,563 (GRCm39)	missense	possibly damaging	0.53
R3975:Gpbp1l1	UTSW	4	116,428,182 (GRCm39)	critical splice donor site	probably null
R4296:Gpbp1l1	UTSW	4	116,444,656 (GRCm39)	missense	possibly damaging	0.80
R4676:Gpbp1l1	UTSW	4	116,447,462 (GRCm39)	missense	probably damaging	1.00
R4870:Gpbp1l1	UTSW	4	116,430,714 (GRCm39)	missense	probably benign
R5086:Gpbp1l1	UTSW	4	116,445,789 (GRCm39)	missense	probably benign	0.04
R5931:Gpbp1l1	UTSW	4	116,447,457 (GRCm39)	missense	probably benign	0.00
R6486:Gpbp1l1	UTSW	4	116,438,572 (GRCm39)	missense	probably damaging	0.99
R6604:Gpbp1l1	UTSW	4	116,430,702 (GRCm39)	missense	probably benign	0.09
R6973:Gpbp1l1	UTSW	4	116,438,479 (GRCm39)	missense	possibly damaging	0.53
R7230:Gpbp1l1	UTSW	4	116,445,807 (GRCm39)	missense	probably damaging	0.99
R7286:Gpbp1l1	UTSW	4	116,447,442 (GRCm39)	missense	probably benign	0.02
R7368:Gpbp1l1	UTSW	4	116,430,655 (GRCm39)	missense	probably benign	0.04
R7791:Gpbp1l1	UTSW	4	116,431,617 (GRCm39)	missense	probably damaging	1.00
R9475:Gpbp1l1	UTSW	4	116,431,558 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ACCCATCATACTGAACTCTAGACTG -3'
(R):5'- CCCTTGTGCATGAAGTATTCAAC -3'

Sequencing Primer
(F):5'- TCTTTAAGCCTAGAACCTGAGGC -3'
(R):5'- GTGCATGAAGTATTCAACAACATAAG -3'

Posted On

2019-05-13