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

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

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116592848 bp (GRCm38)

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
1700029J07Rik	T	C	8: 45,968,103 (GRCm38)	I128V	probably benign	Het
4930432K21Rik	C	A	8: 84,166,684 (GRCm38)	P160Q	possibly damaging	Het
4931414P19Rik	T	C	14: 54,595,601 (GRCm38)	N39S	probably benign	Het
Abca13	C	T	11: 9,621,892 (GRCm38)	R4818C	probably damaging	Het
Acadsb	A	G	7: 131,443,637 (GRCm38)	I433V	probably benign	Het
Acsl3	T	A	1: 78,688,283 (GRCm38)	I142N	probably benign	Het
Api5	G	A	2: 94,425,616 (GRCm38)	T242M	probably benign	Het
Ccdc88c	T	C	12: 100,945,064 (GRCm38)	E37G	probably damaging	Het
Cntnap4	C	A	8: 112,858,242 (GRCm38)	Q1104K	probably benign	Het
Cry1	A	G	10: 85,148,662 (GRCm38)	S183P	probably benign	Het
Cuzd1	A	T	7: 131,308,851 (GRCm38)	F572I	probably benign	Het
Dcbld1	A	T	10: 52,290,889 (GRCm38)	D104V	probably damaging	Het
Dhh	C	T	15: 98,894,026 (GRCm38)	G367E	possibly damaging	Het
Dhx15	T	C	5: 52,184,589 (GRCm38)	D129G	probably benign	Het
Drd3	T	A	16: 43,762,498 (GRCm38)	V86E	probably damaging	Het
Ebf1	A	G	11: 44,621,968 (GRCm38)	T135A	possibly damaging	Het
Epha5	T	C	5: 84,142,300 (GRCm38)	I428V	probably benign	Het
Epx	T	A	11: 87,875,523 (GRCm38)		probably benign	Het
Fam83d	T	A	2: 158,785,307 (GRCm38)	N305K	probably benign	Het
Gchfr	T	A	2: 119,169,755 (GRCm38)	V39D	probably benign	Het
Ggnbp2	A	G	11: 84,860,641 (GRCm38)	L111P	probably damaging	Het
Gnal	G	A	18: 67,222,588 (GRCm38)	G340D	probably damaging	Het
Gpat2	A	G	2: 127,435,475 (GRCm38)	E745G	probably damaging	Het
Hmgxb4	C	T	8: 75,029,572 (GRCm38)	Q171*	probably null	Het
Igkv4-91	G	T	6: 68,768,558 (GRCm38)	R119S	possibly damaging	Het
Ing2	T	C	8: 47,668,823 (GRCm38)	D230G	probably benign	Het
Itfg2	A	G	6: 128,416,054 (GRCm38)	V82A	probably damaging	Het
Klhl22	T	C	16: 17,777,026 (GRCm38)	S340P	probably damaging	Het
Lipm	A	T	19: 34,116,471 (GRCm38)	M263L	probably benign	Het
Ly96	A	T	1: 16,688,563 (GRCm38)	E19V	possibly damaging	Het
Mark1	C	T	1: 184,912,632 (GRCm38)	E376K	possibly damaging	Het
Mlip	T	A	9: 77,138,553 (GRCm38)	M375L	probably benign	Het
Mug1	A	T	6: 121,838,714 (GRCm38)	N26Y	probably benign	Het
Olfr1032	C	T	2: 86,008,595 (GRCm38)	A273V	probably benign	Het
Olfr1368	C	T	13: 21,143,000 (GRCm38)	S19N	probably benign	Het
Olfr543	T	A	7: 102,477,850 (GRCm38)	T7S	probably benign	Het
Ptk2	G	A	15: 73,221,809 (GRCm38)	P854S	possibly damaging	Het
Rb1cc1	T	C	1: 6,238,466 (GRCm38)		probably null	Het
Rgs4	T	C	1: 169,743,767 (GRCm38)	T178A	probably benign	Het
Sel1l2	T	A	2: 140,340,123 (GRCm38)	K31N	possibly damaging	Het
Serpinf1	T	C	11: 75,410,196 (GRCm38)	R398G	probably damaging	Het
Sgo2b	C	T	8: 63,940,044 (GRCm38)	E120K	possibly damaging	Het
Stard9	T	C	2: 120,700,450 (GRCm38)	F2396S	possibly damaging	Het
Tcrg-V6	G	A	13: 19,190,440 (GRCm38)	E25K	probably benign	Het
Trpc3	A	C	3: 36,621,310 (GRCm38)	I893S	probably benign	Het
Trpc4ap	C	A	2: 155,692,215 (GRCm38)	R31L	unknown	Het
Vat1l	A	G	8: 114,271,432 (GRCm38)	R239G	possibly damaging	Het
Vmn1r56	T	A	7: 5,196,262 (GRCm38)	R119*	probably null	Het
Vmn2r111	T	C	17: 22,571,245 (GRCm38)	Y260C	probably damaging	Het
Zfp664	A	G	5: 124,886,006 (GRCm38)	T155A	probably benign	Het

Other mutations in Gpbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Gpbp1l1	APN	4	116,587,513 (GRCm38)	critical splice donor site	probably null
IGL03342:Gpbp1l1	APN	4	116,574,543 (GRCm38)	missense	probably benign
R0534:Gpbp1l1	UTSW	4	116,591,268 (GRCm38)	missense	probably damaging	1.00
R0964:Gpbp1l1	UTSW	4	116,581,239 (GRCm38)	splice site	probably benign
R1136:Gpbp1l1	UTSW	4	116,592,918 (GRCm38)	missense	probably damaging	1.00
R1169:Gpbp1l1	UTSW	4	116,574,366 (GRCm38)	missense	possibly damaging	0.53
R3975:Gpbp1l1	UTSW	4	116,570,985 (GRCm38)	critical splice donor site	probably null
R4296:Gpbp1l1	UTSW	4	116,587,459 (GRCm38)	missense	possibly damaging	0.80
R4676:Gpbp1l1	UTSW	4	116,590,265 (GRCm38)	missense	probably damaging	1.00
R4870:Gpbp1l1	UTSW	4	116,573,517 (GRCm38)	missense	probably benign
R5086:Gpbp1l1	UTSW	4	116,588,592 (GRCm38)	missense	probably benign	0.04
R5931:Gpbp1l1	UTSW	4	116,590,260 (GRCm38)	missense	probably benign	0.00
R6486:Gpbp1l1	UTSW	4	116,581,375 (GRCm38)	missense	probably damaging	0.99
R6604:Gpbp1l1	UTSW	4	116,573,505 (GRCm38)	missense	probably benign	0.09
R6973:Gpbp1l1	UTSW	4	116,581,282 (GRCm38)	missense	possibly damaging	0.53
R7230:Gpbp1l1	UTSW	4	116,588,610 (GRCm38)	missense	probably damaging	0.99
R7286:Gpbp1l1	UTSW	4	116,590,245 (GRCm38)	missense	probably benign	0.02
R7368:Gpbp1l1	UTSW	4	116,573,458 (GRCm38)	missense	probably benign	0.04
R7791:Gpbp1l1	UTSW	4	116,574,420 (GRCm38)	missense	probably damaging	1.00
R9475:Gpbp1l1	UTSW	4	116,574,361 (GRCm38)	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