Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:Gpbp1l1'

461830

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1l1

Ensembl Gene

ENSMUSG00000034042

Gene Name

GC-rich promoter binding protein 1-like 1

Synonyms

5330440M15Rik

MMRRC Submission

044126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116414855-116451079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116447457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 379 (V379A)

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

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

AlphaFold

Q6NZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000030460
AA Change: V379A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: V379A

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
AA Change: V379A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: V379A

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: ENSMUST00000138837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,896,096 (GRCm39)	R315W	probably damaging	Het
Atrn	A	T	2: 130,775,356 (GRCm39)	Y153F	possibly damaging	Het
C4b	A	G	17: 34,948,167 (GRCm39)	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,736,397 (GRCm39)	K654T	probably damaging	Het
Cdh1	T	C	8: 107,392,964 (GRCm39)		probably null	Het
Chrna1	C	T	2: 73,398,444 (GRCm39)	V332M	probably benign	Het
Clca3a2	A	C	3: 144,797,886 (GRCm39)	V193G	possibly damaging	Het
Cyld	A	G	8: 89,456,470 (GRCm39)		probably null	Het
Dbt	A	T	3: 116,317,074 (GRCm39)	E83D	possibly damaging	Het
Deup1	T	C	9: 15,472,618 (GRCm39)	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,675,173 (GRCm39)	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,376,788 (GRCm39)	R524*	probably null	Het
Dnaaf9	G	A	2: 130,656,109 (GRCm39)	T2M	probably damaging	Het
Dnah5	A	T	15: 28,453,425 (GRCm39)	R4399W	probably damaging	Het
Egflam	G	A	15: 7,273,338 (GRCm39)	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,269,561 (GRCm39)	T211I	probably damaging	Het
Ep400	A	G	5: 110,883,386 (GRCm39)		probably benign	Het
Ermp1	C	G	19: 29,593,129 (GRCm39)	A788P	probably benign	Het
Ern1	A	G	11: 106,317,699 (GRCm39)	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,999,250 (GRCm39)	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,806,307 (GRCm39)	S444T	probably benign	Het
Gabra6	G	A	11: 42,198,268 (GRCm39)	T384M	probably benign	Het
Hook2	G	T	8: 85,722,375 (GRCm39)	E305*	probably null	Het
Hoxa3	G	A	6: 52,149,568 (GRCm39)	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,391,915 (GRCm39)	P339Q	probably benign	Het
Igha	T	A	12: 113,223,710 (GRCm39)	T49S	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Lats2	A	G	14: 57,933,588 (GRCm39)	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,020,839 (GRCm39)	T255A	probably benign	Het
Lpar6	A	G	14: 73,476,368 (GRCm39)	I110V	probably damaging	Het
Lrrtm4	A	G	6: 79,998,722 (GRCm39)	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,307,000 (GRCm39)	V371A	probably benign	Het
Muc20	A	T	16: 32,614,944 (GRCm39)	D144E	possibly damaging	Het
Nphp3	T	A	9: 103,897,945 (GRCm39)	D417E	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8b40	A	G	9: 38,027,670 (GRCm39)	I193V	probably benign	Het
Paqr7	A	C	4: 134,235,031 (GRCm39)	Y296S	probably damaging	Het
Pcdha4	A	T	18: 37,087,808 (GRCm39)	T664S	probably damaging	Het
Pelo	T	A	13: 115,225,379 (GRCm39)	Y282F	probably benign	Het
Plxna2	A	T	1: 194,493,178 (GRCm39)	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,389,833 (GRCm39)	D319G	probably benign	Het
Pnma8a	C	A	7: 16,694,809 (GRCm39)	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,640,810 (GRCm39)		probably null	Het
Prkca	T	G	11: 107,905,136 (GRCm39)	I201L	probably benign	Het
Prp2rt	A	G	13: 97,235,705 (GRCm39)	L14S	probably benign	Het
Rfx2	G	A	17: 57,087,778 (GRCm39)	R538C	probably damaging	Het
Rph3a	T	C	5: 121,101,936 (GRCm39)	Q100R	probably damaging	Het
Rtel1	C	T	2: 180,972,608 (GRCm39)	R29*	probably null	Het
Scel	T	A	14: 103,843,060 (GRCm39)	Y547*	probably null	Het
Sp100	C	T	1: 85,606,804 (GRCm39)	P303L	probably damaging	Het
Stk31	A	G	6: 49,446,236 (GRCm39)	S958G	probably benign	Het
Syne2	T	A	12: 76,055,639 (GRCm39)	V4168E	probably benign	Het
Tenm3	A	T	8: 49,099,533 (GRCm39)	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tmem248	T	A	5: 130,258,349 (GRCm39)	I14N	probably damaging	Het
Tor3a	T	C	1: 156,484,057 (GRCm39)	I298V	probably benign	Het
Trim69	A	T	2: 122,009,075 (GRCm39)	K378N	probably damaging	Het
Ttc28	C	T	5: 111,232,975 (GRCm39)	P151S	possibly damaging	Het
Uaca	T	C	9: 60,779,294 (GRCm39)	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,705,065 (GRCm39)	I343V	probably benign	Het
Wnk4	A	G	11: 101,152,047 (GRCm39)	T184A	probably damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	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
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
R7031:Gpbp1l1	UTSW	4	116,450,045 (GRCm39)	missense	probably damaging	1.00
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'- AGTTTATTGTCACAGCTGGTCTC -3'
(R):5'- ATGTGGAAAATCCTTGTGCTCTTG -3'

Sequencing Primer
(F):5'- CACAGCTGGTCTCAGTTTTAAAATGG -3'
(R):5'- GGAAAATCCTTGTGCTCTTGACTATG -3'

Posted On

2017-02-28