Mutagenetix > Incidental Mutation

Incidental Mutation 'R4334:Gpatch3'

323687

Institutional Source

Beutler Lab

Gene Symbol

Gpatch3

Ensembl Gene

ENSMUSG00000028850

Gene Name

G patch domain containing 3

Synonyms

Gpatc3, D930035B09Rik

MMRRC Submission

041664-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133302056-133311553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133309792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 375 (D375G)

Ref Sequence

ENSEMBL: ENSMUSP00000030662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]

AlphaFold

Q8BIY1

Predicted Effect

probably benign
Transcript: ENSMUST00000030661

SMART Domains

Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	14	261	6.6e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000030662
AA Change: D375G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850
AA Change: D375G

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC
low complexity region	274	305	N/A	INTRINSIC
G_patch	409	457	1.3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105899

SMART Domains

Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	14	117	9.2e-42	PFAM
Pfam:ATP_bind_1	115	238	4.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154648

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,537,242 (GRCm39)	V447E	probably damaging	Het
Adcyap1	T	C	17: 93,509,696 (GRCm39)	L49P	probably benign	Het
B4galt4	T	C	16: 38,572,621 (GRCm39)	I102T	probably damaging	Het
Cc2d2a	A	G	5: 43,840,476 (GRCm39)	D110G	probably benign	Het
Ccdc141	C	T	2: 77,000,776 (GRCm39)	V19I	probably damaging	Het
Ccdc39	A	G	3: 33,892,031 (GRCm39)	L147P	probably damaging	Het
Cdc5l	A	T	17: 45,721,712 (GRCm39)	D519E	probably benign	Het
Cdh23	G	T	10: 60,220,838 (GRCm39)	T1305K	probably damaging	Het
Cfi	T	A	3: 129,644,478 (GRCm39)	V158D	possibly damaging	Het
Clstn2	T	G	9: 97,345,581 (GRCm39)	Y589S	probably damaging	Het
Dsp	A	G	13: 38,380,640 (GRCm39)	K1863E	possibly damaging	Het
Enpp3	A	T	10: 24,669,487 (GRCm39)	M491K	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fkbp15	G	A	4: 62,221,456 (GRCm39)	A1170V	possibly damaging	Het
Foxa2	T	C	2: 147,886,623 (GRCm39)	N64S	possibly damaging	Het
Foxm1	T	C	6: 128,342,930 (GRCm39)	I88T	probably damaging	Het
Gm3173	A	T	14: 15,728,364 (GRCm39)	I8L	possibly damaging	Het
Herc2	T	C	7: 55,876,402 (GRCm39)	F4436L	probably damaging	Het
Htr3b	G	A	9: 48,856,809 (GRCm39)	A223V	probably damaging	Het
Iars2	T	A	1: 185,035,591 (GRCm39)	T550S	probably benign	Het
Igsf9	A	T	1: 172,321,779 (GRCm39)	K149*	probably null	Het
Khnyn	A	G	14: 56,131,499 (GRCm39)	D536G	probably damaging	Het
Kng1	T	C	16: 22,898,370 (GRCm39)	V409A	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Madd	C	T	2: 90,970,917 (GRCm39)	V1508I	probably benign	Het
Micall2	T	C	5: 139,699,105 (GRCm39)	E527G	probably damaging	Het
Myo7b	A	G	18: 32,110,040 (GRCm39)	S1141P	probably damaging	Het
Ncoa2	G	A	1: 13,245,187 (GRCm39)	P504S	possibly damaging	Het
Notch1	G	A	2: 26,350,048 (GRCm39)	T2364I	probably benign	Het
Pde4c	T	A	8: 71,202,475 (GRCm39)		probably null	Het
Pik3cb	A	G	9: 98,943,904 (GRCm39)	L633P	probably damaging	Het
Ranbp2	T	A	10: 58,299,816 (GRCm39)	D483E	probably damaging	Het
Sh3tc2	A	G	18: 62,123,392 (GRCm39)	N718D	probably damaging	Het
Spast	G	A	17: 74,659,010 (GRCm39)	A126T	probably damaging	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Tmprss6	T	A	15: 78,343,627 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc79	C	T	12: 103,045,233 (GRCm39)	T803M	probably benign	Het
Vmn2r118	A	T	17: 55,917,347 (GRCm39)	F388L	possibly damaging	Het
Vmn2r71	T	C	7: 85,269,042 (GRCm39)	V415A	probably benign	Het
Wdr4	A	T	17: 31,718,126 (GRCm39)	F316Y	possibly damaging	Het
Zfp810	T	C	9: 22,190,080 (GRCm39)	Y276C	probably benign	Het

Other mutations in Gpatch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01590:Gpatch3	APN	4	133,308,028 (GRCm39)	unclassified	probably benign
IGL02876:Gpatch3	APN	4	133,307,995 (GRCm39)	missense	probably damaging	1.00
IGL03181:Gpatch3	APN	4	133,305,433 (GRCm39)	missense	probably damaging	1.00
ANU23:Gpatch3	UTSW	4	133,305,613 (GRCm39)	small deletion	probably benign
PIT4585001:Gpatch3	UTSW	4	133,310,397 (GRCm39)	missense	probably damaging	0.99
R0358:Gpatch3	UTSW	4	133,305,215 (GRCm39)	splice site	probably null
R0383:Gpatch3	UTSW	4	133,305,457 (GRCm39)	missense	probably damaging	1.00
R1706:Gpatch3	UTSW	4	133,302,484 (GRCm39)	nonsense	probably null
R2269:Gpatch3	UTSW	4	133,311,118 (GRCm39)	missense	possibly damaging	0.83
R3788:Gpatch3	UTSW	4	133,302,479 (GRCm39)	missense	possibly damaging	0.93
R4030:Gpatch3	UTSW	4	133,305,458 (GRCm39)	missense	possibly damaging	0.94
R4718:Gpatch3	UTSW	4	133,309,855 (GRCm39)	missense	probably benign	0.37
R5036:Gpatch3	UTSW	4	133,305,461 (GRCm39)	missense	probably damaging	1.00
R6032:Gpatch3	UTSW	4	133,305,617 (GRCm39)	missense	probably benign	0.06
R6032:Gpatch3	UTSW	4	133,305,617 (GRCm39)	missense	probably benign	0.06
R6572:Gpatch3	UTSW	4	133,302,191 (GRCm39)	missense	probably damaging	1.00
R6923:Gpatch3	UTSW	4	133,309,836 (GRCm39)	missense	probably damaging	1.00
R7106:Gpatch3	UTSW	4	133,305,514 (GRCm39)	missense	probably benign	0.05
R7572:Gpatch3	UTSW	4	133,302,117 (GRCm39)	missense	probably benign	0.01
R7737:Gpatch3	UTSW	4	133,302,407 (GRCm39)	missense	probably benign	0.01
R7937:Gpatch3	UTSW	4	133,310,308 (GRCm39)	missense	probably damaging	0.98
R8300:Gpatch3	UTSW	4	133,307,140 (GRCm39)	missense	probably damaging	1.00
R9541:Gpatch3	UTSW	4	133,305,595 (GRCm39)	missense	probably benign	0.01
RF025:Gpatch3	UTSW	4	133,305,621 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCATCTGGAAGAAGAGAGCC -3'
(R):5'- AAGTGGCTCAAGTGTGGCAG -3'

Sequencing Primer
(F):5'- AAGAGAGCCAAGGTTCCTGTTCC -3'
(R):5'- CACACTCACTTACCTTGGT -3'

Posted On

2015-06-24