Mutagenetix > Incidental Mutation

Incidental Mutation 'R4126:Gpatch1'

315397

Institutional Source

Beutler Lab

Gene Symbol

Gpatch1

Ensembl Gene

ENSMUSG00000063808

Gene Name

G patch domain containing 1

Synonyms

Gpatc1, 1300003A17Rik

MMRRC Submission

041634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4126 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34975969-35017865 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 34993079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078632 (fasta)

Gene Model

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

AlphaFold

Q9DBM1

Predicted Effect

probably null
Transcript: ENSMUST00000079693

SMART Domains

Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808

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 benign
Transcript: ENSMUST00000131213

SMART Domains

Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808

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

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

89% (33/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,984,703 (GRCm39)	W249R	probably benign	Het
Ank	G	A	15: 27,590,459 (GRCm39)	V348I	probably benign	Het
Atad3a	A	T	4: 155,838,518 (GRCm39)		probably benign	Het
Bbox1	A	G	2: 110,100,525 (GRCm39)	V224A	probably benign	Het
Cdk5rap1	A	G	2: 154,210,815 (GRCm39)	C108R	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Celsr2	G	T	3: 108,309,413 (GRCm39)	A1614D	possibly damaging	Het
Chd9	A	G	8: 91,777,912 (GRCm39)	D2641G	probably damaging	Het
E2f8	T	C	7: 48,525,355 (GRCm39)	I206V	probably damaging	Het
Glyat	G	T	19: 12,628,843 (GRCm39)	V213F	probably benign	Het
Jarid2	T	C	13: 45,055,732 (GRCm39)	S313P	probably damaging	Het
Kcnc1	T	C	7: 46,047,426 (GRCm39)	Y109H	probably damaging	Het
Kif12	C	T	4: 63,084,674 (GRCm39)	S548N	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myrip	C	A	9: 120,293,764 (GRCm39)	S753*	probably null	Het
Naalad2	T	C	9: 18,258,766 (GRCm39)	Y503C	probably damaging	Het
Nid1	T	C	13: 13,650,957 (GRCm39)	V498A	probably damaging	Het
Or8k25	A	T	2: 86,243,568 (GRCm39)	I276N	probably damaging	Het
Parp8	C	A	13: 117,005,005 (GRCm39)	K685N	possibly damaging	Het
Prr14l	G	T	5: 32,985,347 (GRCm39)	H1383N	probably damaging	Het
Pxn	A	G	5: 115,684,966 (GRCm39)	R264G	probably damaging	Het
Slc6a20a	G	T	9: 123,489,598 (GRCm39)	F148L	probably damaging	Het
Spag11b	T	C	8: 19,191,395 (GRCm39)	S23P	possibly damaging	Het
Stac	C	A	9: 111,433,126 (GRCm39)		probably null	Het
Taf11	T	C	17: 28,120,746 (GRCm39)	K175E	possibly damaging	Het
Tll1	T	C	8: 64,571,048 (GRCm39)	R175G	possibly damaging	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Usp4	T	C	9: 108,237,316 (GRCm39)	V128A	probably benign	Het
Zfp788	T	C	7: 41,298,860 (GRCm39)	F479L	probably damaging	Het
Zmiz1	T	G	14: 25,657,354 (GRCm39)	S877A	possibly damaging	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
IGL03324:Gpatch1	APN	7	34,998,705 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGCATGTACCTGAACGTAGTAC -3'
(R):5'- TTTCCTTGGGGTAAAACAGTGCC -3'

Sequencing Primer
(F):5'- ctgggttcaacgcaattc -3'
(R):5'- GGTAAAACAGTGCCTTGCTC -3'

Posted On

2015-05-14