Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03324:Gpatch1'

416579

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03324

Quality Score

Status

Chromosome

Chromosomal Location

34975969-35017865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34998705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 342 (Y342H)

Ref Sequence

ENSEMBL: ENSMUSP00000078632 (fasta)

Gene Model

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

AlphaFold

Q9DBM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000079693
AA Change: Y342H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: Y342H

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

possibly damaging
Transcript: ENSMUST00000131213
AA Change: Y342H

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: Y342H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,982,261 (GRCm39)	E282G	probably benign	Het
Abca12	T	A	1: 71,353,167 (GRCm39)	K758N	probably benign	Het
Acacb	A	T	5: 114,363,915 (GRCm39)	R1459*	probably null	Het
Aco1	A	G	4: 40,186,363 (GRCm39)	T592A	probably benign	Het
Aldh2	C	T	5: 121,713,188 (GRCm39)	G256D	probably benign	Het
Apbb2	A	T	5: 66,469,500 (GRCm39)		probably null	Het
Apoe	A	T	7: 19,430,462 (GRCm39)	I260K	probably benign	Het
Cep89	G	A	7: 35,124,078 (GRCm39)		probably benign	Het
Coq3	A	G	4: 21,900,361 (GRCm39)	D196G	probably benign	Het
Crispld2	C	T	8: 120,742,110 (GRCm39)	R153W	probably damaging	Het
Enox1	A	G	14: 77,852,925 (GRCm39)	E397G	probably damaging	Het
Grid2	T	C	6: 64,406,806 (GRCm39)	V722A	possibly damaging	Het
Hsh2d	T	C	8: 72,947,356 (GRCm39)	F18L	probably damaging	Het
Htra2	C	T	6: 83,030,737 (GRCm39)	D190N	probably damaging	Het
Lrfn2	A	G	17: 49,377,915 (GRCm39)	N332S	probably damaging	Het
Naa10	C	T	X: 72,963,568 (GRCm39)		probably null	Het
Nlrp4f	T	C	13: 65,343,042 (GRCm39)	E179G	possibly damaging	Het
Or13p10	T	A	4: 118,523,069 (GRCm39)	F118L	probably benign	Het
Or14j1	G	A	17: 38,146,165 (GRCm39)	G92S	probably benign	Het
Or4c111	A	T	2: 88,843,903 (GRCm39)	C168*	probably null	Het
Prss46	T	A	9: 110,678,747 (GRCm39)	N46K	probably benign	Het
Rep15	A	C	6: 146,934,163 (GRCm39)	M1L	possibly damaging	Het
Slc10a4	G	T	5: 73,169,286 (GRCm39)	A105S	probably damaging	Het
Slc26a9	A	T	1: 131,691,748 (GRCm39)	T664S	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Tmf1	C	A	6: 97,140,614 (GRCm39)	R754L	probably damaging	Het
Xcr1	T	A	9: 123,685,549 (GRCm39)	Y71F	probably benign	Het
Yars1	C	T	4: 129,104,328 (GRCm39)	T324I	probably benign	Het
Zfp106	A	G	2: 120,365,868 (GRCm39)	S180P	probably benign	Het

Other mutations in Gpatch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Gpatch1	APN	7	34,976,238 (GRCm39)	critical splice acceptor site	probably null
IGL01143:Gpatch1	APN	7	35,000,997 (GRCm39)	splice site	probably benign
IGL01523:Gpatch1	APN	7	35,007,763 (GRCm39)	missense	probably null	1.00
IGL01862:Gpatch1	APN	7	34,994,703 (GRCm39)	missense	probably benign
IGL02349:Gpatch1	APN	7	35,006,680 (GRCm39)	missense	probably damaging	1.00
IGL02792:Gpatch1	APN	7	35,001,018 (GRCm39)	missense	probably damaging	0.96
IGL02926:Gpatch1	APN	7	35,007,694 (GRCm39)	missense	probably damaging	1.00
IGL03099:Gpatch1	APN	7	34,996,948 (GRCm39)	missense	possibly damaging	0.87
IGL03107:Gpatch1	APN	7	35,002,742 (GRCm39)	missense	probably benign	0.35
IGL03324:Gpatch1	APN	7	34,993,120 (GRCm39)	missense	possibly damaging	0.81
R0066:Gpatch1	UTSW	7	34,986,652 (GRCm39)	missense	probably damaging	1.00
R0066:Gpatch1	UTSW	7	34,986,652 (GRCm39)	missense	probably damaging	1.00
R0137:Gpatch1	UTSW	7	34,986,667 (GRCm39)	missense	probably damaging	1.00
R0347:Gpatch1	UTSW	7	34,997,056 (GRCm39)	missense	probably benign	0.16
R0382:Gpatch1	UTSW	7	35,001,080 (GRCm39)	missense	probably damaging	1.00
R0390:Gpatch1	UTSW	7	34,980,806 (GRCm39)	intron	probably benign
R0791:Gpatch1	UTSW	7	34,980,801 (GRCm39)	intron	probably benign
R1162:Gpatch1	UTSW	7	35,002,905 (GRCm39)	splice site	probably benign
R1374:Gpatch1	UTSW	7	34,991,187 (GRCm39)	missense	probably damaging	1.00
R1480:Gpatch1	UTSW	7	35,002,763 (GRCm39)	missense	probably damaging	1.00
R1556:Gpatch1	UTSW	7	34,994,776 (GRCm39)	missense	probably benign	0.00
R1682:Gpatch1	UTSW	7	35,002,812 (GRCm39)	missense	possibly damaging	0.80
R1887:Gpatch1	UTSW	7	35,002,813 (GRCm39)	missense	probably damaging	0.98
R1935:Gpatch1	UTSW	7	34,994,947 (GRCm39)	missense	probably damaging	1.00
R1936:Gpatch1	UTSW	7	34,994,947 (GRCm39)	missense	probably damaging	1.00
R2148:Gpatch1	UTSW	7	34,998,701 (GRCm39)	missense	probably benign	0.16
R2205:Gpatch1	UTSW	7	34,991,197 (GRCm39)	missense	probably damaging	1.00
R2215:Gpatch1	UTSW	7	34,993,252 (GRCm39)	missense	possibly damaging	0.48
R2274:Gpatch1	UTSW	7	34,988,103 (GRCm39)	missense	probably benign	0.00
R2275:Gpatch1	UTSW	7	34,988,103 (GRCm39)	missense	probably benign	0.00
R4126:Gpatch1	UTSW	7	34,993,079 (GRCm39)	critical splice donor site	probably null
R4705:Gpatch1	UTSW	7	34,998,730 (GRCm39)	splice site	probably null
R5227:Gpatch1	UTSW	7	35,008,776 (GRCm39)	missense	probably benign	0.09
R5567:Gpatch1	UTSW	7	35,006,640 (GRCm39)	missense	probably damaging	0.99
R5810:Gpatch1	UTSW	7	34,994,796 (GRCm39)	missense	probably benign	0.01
R5946:Gpatch1	UTSW	7	34,991,257 (GRCm39)	missense	probably damaging	0.99
R6263:Gpatch1	UTSW	7	35,002,848 (GRCm39)	missense	probably damaging	1.00
R6386:Gpatch1	UTSW	7	34,991,265 (GRCm39)	missense	probably damaging	1.00
R6569:Gpatch1	UTSW	7	34,991,163 (GRCm39)	missense	probably damaging	1.00
R6847:Gpatch1	UTSW	7	34,992,983 (GRCm39)	splice site	probably null
R7186:Gpatch1	UTSW	7	34,994,738 (GRCm39)	missense	possibly damaging	0.86
R7259:Gpatch1	UTSW	7	34,986,546 (GRCm39)	critical splice donor site	probably null
R7276:Gpatch1	UTSW	7	34,996,921 (GRCm39)	missense	probably benign	0.00
R7516:Gpatch1	UTSW	7	35,007,625 (GRCm39)	missense	probably benign	0.09
R7521:Gpatch1	UTSW	7	34,993,213 (GRCm39)	missense	probably damaging	1.00
R7561:Gpatch1	UTSW	7	35,008,800 (GRCm39)	missense	probably damaging	1.00
R7570:Gpatch1	UTSW	7	34,993,237 (GRCm39)	missense	probably damaging	1.00
R7588:Gpatch1	UTSW	7	34,991,173 (GRCm39)	missense	probably damaging	1.00
R7843:Gpatch1	UTSW	7	34,980,879 (GRCm39)	missense	unknown
R8353:Gpatch1	UTSW	7	34,976,704 (GRCm39)	intron	probably benign
R8430:Gpatch1	UTSW	7	35,007,634 (GRCm39)	missense	probably damaging	1.00
R8669:Gpatch1	UTSW	7	34,991,204 (GRCm39)	missense	probably damaging	1.00
X0020:Gpatch1	UTSW	7	34,994,806 (GRCm39)	missense	probably benign	0.09
Z1176:Gpatch1	UTSW	7	35,009,910 (GRCm39)	missense	probably damaging	1.00
Z1186:Gpatch1	UTSW	7	35,017,770 (GRCm39)	missense	probably benign
Z1186:Gpatch1	UTSW	7	34,997,079 (GRCm39)	missense	possibly damaging	0.91
Z1186:Gpatch1	UTSW	7	34,980,797 (GRCm39)	missense	unknown
Z1191:Gpatch1	UTSW	7	35,017,770 (GRCm39)	missense	probably benign
Z1191:Gpatch1	UTSW	7	34,997,079 (GRCm39)	missense	possibly damaging	0.91
Z1191:Gpatch1	UTSW	7	34,980,797 (GRCm39)	missense	unknown

Posted On

2016-08-02