Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Gpatch3'

596308

Institutional Source

Beutler Lab

Gene Symbol

Gpatch3

Ensembl Gene

ENSMUSG00000028850

Gene Name

G patch domain containing 3

Synonyms

Gpatc3, D930035B09Rik

MMRRC Submission

045793-MU

Accession Numbers

Essential gene?

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

Stock #

R7737 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

133302056-133311553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 133302407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 113 (Q113E)

Ref Sequence

ENSEMBL: ENSMUSP00000030662 (fasta)

Gene Model

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

AlphaFold

Q8BIY1

Predicted Effect

probably benign
Transcript: ENSMUST00000030662
AA Change: Q113E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850
AA Change: Q113E

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,463,566 (GRCm39)		probably null	Het
Akap3	T	A	6: 126,851,065 (GRCm39)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,254,470 (GRCm39)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,250,728 (GRCm39)	E493G	possibly damaging	Het
Arvcf	G	A	16: 18,214,966 (GRCm39)	R119Q	probably damaging	Het
Asmt	T	C	X: 169,110,175 (GRCm39)	F228S	probably damaging	Het
Atp2c2	T	A	8: 120,469,134 (GRCm39)	V349E	probably damaging	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,558,332 (GRCm39)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,463,926 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,603,338 (GRCm39)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,357,649 (GRCm39)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,861,302 (GRCm39)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,530,331 (GRCm39)	Y93*	probably null	Het
Fcgbpl1	T	A	7: 27,856,498 (GRCm39)	V2095E	probably damaging	Het
Gak	A	C	5: 108,764,874 (GRCm39)	L84R	probably benign	Het
Gm5458	A	T	14: 19,649,805 (GRCm39)		probably null	Het
Gpld1	C	A	13: 25,159,709 (GRCm39)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,324,467 (GRCm39)	P234S	unknown	Het
Itga6	G	A	2: 71,652,787 (GRCm39)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,121,338 (GRCm39)	N872K	probably benign	Het
Klhl14	G	T	18: 21,691,191 (GRCm39)	Y446*	probably null	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lct	A	T	1: 128,226,430 (GRCm39)	W1320R	probably benign	Het
Lrp2	T	C	2: 69,326,782 (GRCm39)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,699,649 (GRCm39)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,400,003 (GRCm39)		probably null	Het
Mettl15	T	C	2: 108,967,723 (GRCm39)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 39,879,274 (GRCm39)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,164,235 (GRCm39)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,280,150 (GRCm39)	Q803*	probably null	Het
Mtor	A	C	4: 148,623,195 (GRCm39)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,778,749 (GRCm39)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,147,257 (GRCm39)	Y95*	probably null	Het
Nf1	A	G	11: 79,436,314 (GRCm39)	I1985V	probably benign	Het
Noxred1	G	A	12: 87,268,136 (GRCm39)	Q332*	probably null	Het
Nudt21	A	T	8: 94,749,461 (GRCm39)	Y202N	probably damaging	Het
Odad2	A	G	18: 7,217,890 (GRCm39)	L608P	probably damaging	Het
Or1j16	A	T	2: 36,530,632 (GRCm39)	I194F	probably benign	Het
Pik3c2a	A	T	7: 115,955,488 (GRCm39)	S1176T	probably damaging	Het
Pramel14	A	C	4: 143,718,526 (GRCm39)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rbmxl1	A	G	8: 79,232,252 (GRCm39)	S364P	unknown	Het
Rnf24	T	A	2: 131,145,416 (GRCm39)	K131N	probably benign	Het
Scai	T	A	2: 39,013,034 (GRCm39)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,881,297 (GRCm39)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,936,796 (GRCm39)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,874,127 (GRCm39)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,856 (GRCm39)	A427S	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stk16	G	T	1: 75,187,995 (GRCm39)	C8F	probably damaging	Het
Syne2	T	C	12: 75,989,622 (GRCm39)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,336,054 (GRCm39)		probably null	Het
Timp2	A	G	11: 118,194,721 (GRCm39)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,419,347 (GRCm39)	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,481,588 (GRCm39)	M112L	probably benign	Het
Trank1	G	T	9: 111,195,080 (GRCm39)	E1035*	probably null	Het
Trim5	C	T	7: 103,928,771 (GRCm39)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,821,910 (GRCm39)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,403,634 (GRCm39)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,547,016 (GRCm39)		probably null	Het
Zfp592	A	T	7: 80,674,941 (GRCm39)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,838,844 (GRCm39)	N62K	probably benign	Het
Zfp998	A	G	13: 66,581,738 (GRCm39)		probably null	Het
Zmynd11	G	A	13: 9,745,175 (GRCm39)	T248M	probably damaging	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
R4334:Gpatch3	UTSW	4	133,309,792 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTTTAGCCAGTTCCGGGAAC -3'
(R):5'- CAATGCGCCTCTTTTCCAAGG -3'

Sequencing Primer
(F):5'- GGAGGCTTCCTGTGCTTCC -3'
(R):5'- TTTTCCAAGGGCCGTGC -3'

Posted On

2019-11-26