Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01523:Gpatch1'

89486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpatch1

Ensembl Gene

ENSMUSG00000063808

Gene Name

G patch domain containing 1

Synonyms

Gpatc1, 1300003A17Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01523

Quality Score

Status

Chromosome

Chromosomal Location

35276536-35318440 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35308338 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000078632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]

Predicted Effect

probably null
Transcript: ENSMUST00000079693
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: D99G

Domain	Start	End	E-Value	Type
Pfam:DUF1604	31	116	2.1e-39	PFAM
G_patch	150	191	4.72e-1	SMART
low complexity region	200	209	N/A	INTRINSIC
low complexity region	456	478	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	651	665	N/A	INTRINSIC
low complexity region	759	780	N/A	INTRINSIC
low complexity region	803	816	N/A	INTRINSIC
low complexity region	847	897	N/A	INTRINSIC
low complexity region	899	909	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131143

SMART Domains

Protein: ENSMUSP00000121711
Gene: ENSMUSG00000063808

Domain	Start	End	E-Value	Type
Pfam:DUF1604	29	98	2.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131213
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: D99G

Domain	Start	End	E-Value	Type
Pfam:DUF1604	31	116	7.9e-40	PFAM
G_patch	150	191	4.72e-1	SMART
low complexity region	200	209	N/A	INTRINSIC
low complexity region	456	478	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	651	665	N/A	INTRINSIC
low complexity region	759	780	N/A	INTRINSIC
low complexity region	803	816	N/A	INTRINSIC
low complexity region	849	881	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153778

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,494	E246G	probably damaging	Het
B3galt5	T	A	16: 96,315,891	D241E	probably damaging	Het
Camta1	A	G	4: 151,145,050	F442L	possibly damaging	Het
Cntnap5b	A	T	1: 100,431,779	E709V	probably benign	Het
Ctnnal1	T	C	4: 56,835,243	I345V	probably damaging	Het
Evpl	T	C	11: 116,233,444	N183S	probably damaging	Het
Fam90a1b	T	C	X: 94,356,759	D155G	probably benign	Het
Fsip2	G	A	2: 82,977,519	S1394N	probably benign	Het
Gcnt2	A	T	13: 40,887,863	Q166L	probably benign	Het
Grin2b	A	T	6: 136,044,265	W13R	probably null	Het
Hbb-bh1	C	T	7: 103,841,817	V127M	probably benign	Het
Hc	C	T	2: 35,039,238	M282I	probably benign	Het
Hirip3	A	G	7: 126,862,704	E57G	probably damaging	Het
Inpp5j	C	T	11: 3,495,932		probably null	Het
Krt84	A	T	15: 101,528,744	V328E	probably damaging	Het
Lrriq1	C	A	10: 103,218,116	E247*	probably null	Het
Mmrn2	T	A	14: 34,403,217	F918L	probably damaging	Het
Myh13	A	G	11: 67,347,943	E704G	possibly damaging	Het
Myo16	T	A	8: 10,370,908	N249K	probably damaging	Het
Nobox	C	A	6: 43,304,123	K472N	probably damaging	Het
Olfr3	T	A	2: 36,812,403	T230S	probably benign	Het
Orc4	A	T	2: 48,917,224	S232T	probably benign	Het
Pign	A	T	1: 105,653,178	Y159N	probably damaging	Het
Rere	T	A	4: 150,615,555	V1032E	possibly damaging	Het
Ror2	T	C	13: 53,118,963	Q210R	probably benign	Het
Sh3tc2	G	A	18: 61,990,883	R905Q	probably benign	Het
Ttn	A	G	2: 76,954,983	S683P	possibly damaging	Het

Other mutations in Gpatch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Gpatch1	APN	7	35276813	critical splice acceptor site	probably null
IGL01143:Gpatch1	APN	7	35301572	splice site	probably benign
IGL01862:Gpatch1	APN	7	35295278	missense	probably benign
IGL02349:Gpatch1	APN	7	35307255	missense	probably damaging	1.00
IGL02792:Gpatch1	APN	7	35301593	missense	probably damaging	0.96
IGL02926:Gpatch1	APN	7	35308269	missense	probably damaging	1.00
IGL03099:Gpatch1	APN	7	35297523	missense	possibly damaging	0.87
IGL03107:Gpatch1	APN	7	35303317	missense	probably benign	0.35
IGL03324:Gpatch1	APN	7	35299280	missense	probably damaging	0.96
IGL03324:Gpatch1	APN	7	35293695	missense	possibly damaging	0.81
R0066:Gpatch1	UTSW	7	35287227	missense	probably damaging	1.00
R0066:Gpatch1	UTSW	7	35287227	missense	probably damaging	1.00
R0137:Gpatch1	UTSW	7	35287242	missense	probably damaging	1.00
R0347:Gpatch1	UTSW	7	35297631	missense	probably benign	0.16
R0382:Gpatch1	UTSW	7	35301655	missense	probably damaging	1.00
R0390:Gpatch1	UTSW	7	35281381	intron	probably benign
R0791:Gpatch1	UTSW	7	35281376	intron	probably benign
R1162:Gpatch1	UTSW	7	35303480	splice site	probably benign
R1374:Gpatch1	UTSW	7	35291762	missense	probably damaging	1.00
R1480:Gpatch1	UTSW	7	35303338	missense	probably damaging	1.00
R1556:Gpatch1	UTSW	7	35295351	missense	probably benign	0.00
R1682:Gpatch1	UTSW	7	35303387	missense	possibly damaging	0.80
R1887:Gpatch1	UTSW	7	35303388	missense	probably damaging	0.98
R1935:Gpatch1	UTSW	7	35295522	missense	probably damaging	1.00
R1936:Gpatch1	UTSW	7	35295522	missense	probably damaging	1.00
R2148:Gpatch1	UTSW	7	35299276	missense	probably benign	0.16
R2205:Gpatch1	UTSW	7	35291772	missense	probably damaging	1.00
R2215:Gpatch1	UTSW	7	35293827	missense	possibly damaging	0.48
R2274:Gpatch1	UTSW	7	35288678	missense	probably benign	0.00
R2275:Gpatch1	UTSW	7	35288678	missense	probably benign	0.00
R4126:Gpatch1	UTSW	7	35293654	critical splice donor site	probably null
R4705:Gpatch1	UTSW	7	35299305	splice site	probably null
R5227:Gpatch1	UTSW	7	35309351	missense	probably benign	0.09
R5567:Gpatch1	UTSW	7	35307215	missense	probably damaging	0.99
R5810:Gpatch1	UTSW	7	35295371	missense	probably benign	0.01
R5946:Gpatch1	UTSW	7	35291832	missense	probably damaging	0.99
R6263:Gpatch1	UTSW	7	35303423	missense	probably damaging	1.00
R6386:Gpatch1	UTSW	7	35291840	missense	probably damaging	1.00
R6569:Gpatch1	UTSW	7	35291738	missense	probably damaging	1.00
R6847:Gpatch1	UTSW	7	35293558	splice site	probably null
R7186:Gpatch1	UTSW	7	35295313	missense	possibly damaging	0.86
R7259:Gpatch1	UTSW	7	35287121	critical splice donor site	probably null
R7276:Gpatch1	UTSW	7	35297496	missense	probably benign	0.00
R7516:Gpatch1	UTSW	7	35308200	missense	probably benign	0.09
R7521:Gpatch1	UTSW	7	35293788	missense	probably damaging	1.00
R7561:Gpatch1	UTSW	7	35309375	missense	probably damaging	1.00
R7570:Gpatch1	UTSW	7	35293812	missense	probably damaging	1.00
R7588:Gpatch1	UTSW	7	35291748	missense	probably damaging	1.00
R7843:Gpatch1	UTSW	7	35281454	missense	unknown
X0020:Gpatch1	UTSW	7	35295381	missense	probably benign	0.09
Z1176:Gpatch1	UTSW	7	35310485	missense	probably damaging	1.00

Posted On

2013-12-03