Mutagenetix > Incidental Mutation

Incidental Mutation 'R7230:Gpbp1l1'

562413

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7230 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

116557658-116593882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116588610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 303 (I303N)

Ref Sequence

ENSEMBL: ENSMUSP00000030460 (fasta)

Gene Model

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

AlphaFold

Q6NZP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030460
AA Change: I303N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: I303N

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 damaging
Transcript: ENSMUST00000106475
AA Change: I303N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: I303N

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

Meta Mutation Damage Score

0.3599

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	C	7: 46,117,388	D989E	probably benign	Het
Adad1	A	G	3: 37,065,166	Y132C	probably damaging	Het
Adam33	A	T	2: 131,053,563	C579S	probably damaging	Het
Adam6a	A	C	12: 113,545,582	Q525P	probably damaging	Het
Alpk3	C	T	7: 81,093,294	P953L	probably damaging	Het
Atat1	A	G	17: 35,909,439	S54P	probably damaging	Het
Bpgm	A	G	6: 34,487,567	E73G	possibly damaging	Het
Cab39	T	A	1: 85,848,159		probably null	Het
Ccdc162	A	G	10: 41,678,813	L285P	probably damaging	Het
Ccdc30	T	C	4: 119,339,782	E429G	possibly damaging	Het
Cct3	C	T	3: 88,313,260	R260W	probably damaging	Het
Chd1	C	A	17: 15,706,937		probably null	Het
Cxcr4	T	G	1: 128,589,790	T45P	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dlec1	T	G	9: 119,124,538		probably null	Het
Dram2	T	G	3: 106,572,978	Y202*	probably null	Het
Etl4	C	A	2: 20,797,988	T1035K	probably damaging	Het
F5	T	C	1: 164,184,953	F479L	probably benign	Het
Fam172a	G	A	13: 77,759,472	E5K	probably damaging	Het
Frrs1l	C	A	4: 56,972,372	G110W	probably damaging	Het
Grik5	A	G	7: 25,023,070	F538S	probably damaging	Het
Hgsnat	C	A	8: 25,954,832		probably null	Het
Hs2st1	T	C	3: 144,434,546	D338G	probably benign	Het
Impdh1	T	C	6: 29,206,063		probably null	Het
Ipo9	T	C	1: 135,406,758		probably benign	Het
Kdm4b	T	G	17: 56,369,155	L220R	probably damaging	Het
Map1a	T	A	2: 121,300,818	F705Y	probably damaging	Het
Med22	C	T	2: 26,908,211	D99N	probably benign	Het
Muc6	T	C	7: 141,649,214	Y519C	probably damaging	Het
Myt1l	A	G	12: 29,783,874	I25M	probably damaging	Het
Ncam1	T	A	9: 49,509,823	I731F	probably benign	Het
Nlrp4f	T	A	13: 65,194,901	H310L	probably benign	Het
Olfr1286	A	T	2: 111,420,916	F12I	probably damaging	Het
Olfr1306	T	A	2: 111,912,561	Y123F	probably damaging	Het
Olfr694	A	T	7: 106,689,524	M69K	possibly damaging	Het
Olfr701	C	A	7: 106,818,179	T32K	possibly damaging	Het
Prl8a6	T	A	13: 27,433,038	Y223F	probably benign	Het
Prss39	A	G	1: 34,502,147	D244G	probably damaging	Het
Ptx4	A	T	17: 25,123,103	Q184L	possibly damaging	Het
Slc26a1	A	T	5: 108,671,745	D545E	probably damaging	Het
Slc7a12	T	C	3: 14,505,381	S398P	probably damaging	Het
Slc9a4	T	C	1: 40,600,771	V241A	probably damaging	Het
Snw1	T	C	12: 87,464,554	D109G	probably damaging	Het
Syne2	T	A	12: 75,933,900	I1477K	probably benign	Het
Timd4	A	T	11: 46,810,864	Y18F	probably benign	Het
Tmprss2	A	G	16: 97,578,597	Y168H	probably benign	Het
Ttn	A	T	2: 76,738,700	I27283K	probably damaging	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Vasn	C	T	16: 4,649,622	R478C	probably benign	Het
Zfp58	A	T	13: 67,491,963	C136*	probably null	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
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
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'- GCTGCTTTGCCTACATAAATGTC -3'
(R):5'- ATTTGACTGTGAAACACGGAC -3'

Sequencing Primer
(F):5'- CTCCGATCCCTTGAGTTAGAGAG -3'
(R):5'- TTGACTGTGAAACACGGACAAACC -3'

Posted On

2019-06-26