Mutagenetix > Incidental Mutation

Incidental Mutation 'R6386:Gpatch1'

515604

Institutional Source

Beutler Lab

Gene Symbol

Gpatch1

Ensembl Gene

ENSMUSG00000063808

Gene Name

G patch domain containing 1

Synonyms

Gpatc1, 1300003A17Rik

MMRRC Submission

044535-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6386 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34975969-35017865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34991265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 593 (D593G)

Ref Sequence

ENSEMBL: ENSMUSP00000117475 (fasta)

Gene Model

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

AlphaFold

Q9DBM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000079693
AA Change: D593G

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

SMART Domains

Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: D593G

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: D593G

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

SMART Domains

Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: D593G

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

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	TGACGA	TGA	13: 100,792,311 (GRCm39)		probably benign	Het
Arap2	A	T	5: 62,761,865 (GRCm39)	N1620K	possibly damaging	Het
Atf6b	T	C	17: 34,870,825 (GRCm39)	S396P	probably damaging	Het
Cc2d1a	A	G	8: 84,865,166 (GRCm39)	M469T	probably damaging	Het
Ceacam3	A	G	7: 16,892,144 (GRCm39)	N296D	probably benign	Het
Cep57l1	A	T	10: 41,619,128 (GRCm39)	S80T	probably damaging	Het
Clip4	C	A	17: 72,141,189 (GRCm39)	Y514*	probably null	Het
Cop1	T	C	1: 159,116,601 (GRCm39)	I125T	probably damaging	Het
Cstf1	T	C	2: 172,219,816 (GRCm39)	V309A	probably damaging	Het
Cyp4a29	T	G	4: 115,104,272 (GRCm39)		probably null	Het
F830045P16Rik	G	A	2: 129,314,738 (GRCm39)	H180Y	probably damaging	Het
Foxp4	T	C	17: 48,189,387 (GRCm39)	K237E	unknown	Het
Fstl5	A	T	3: 76,229,373 (GRCm39)	H58L	probably benign	Het
Gje1	A	G	10: 14,592,365 (GRCm39)	F139S	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Mtch2	A	G	2: 90,679,739 (GRCm39)	T38A	probably benign	Het
Mvb12b	A	T	2: 33,717,754 (GRCm39)	I129N	probably damaging	Het
Npffr2	T	C	5: 89,730,556 (GRCm39)	V162A	probably benign	Het
Or4d10b	A	T	19: 12,036,920 (GRCm39)	N65K	probably damaging	Het
Or5p61	A	T	7: 107,758,409 (GRCm39)	Y224N	probably damaging	Het
Pkhd1	G	A	1: 20,621,244 (GRCm39)	R805C	probably damaging	Het
Ppp4r4	T	C	12: 103,559,364 (GRCm39)	L406P	probably damaging	Het
Prl3d2	A	G	13: 27,311,286 (GRCm39)	D186G	probably damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Rnf148	A	G	6: 23,654,483 (GRCm39)	L171P	probably damaging	Het
Rps24	G	A	14: 24,542,116 (GRCm39)	G71S	possibly damaging	Het
Slco2a1	G	A	9: 102,954,187 (GRCm39)	V453I	probably benign	Het
Spidr	T	C	16: 15,786,424 (GRCm39)	K440E	probably benign	Het
Syndig1	C	A	2: 149,741,496 (GRCm39)	N27K	probably damaging	Het
Tmem62	C	T	2: 120,829,595 (GRCm39)	T316I	probably benign	Het
Tpgs2	A	T	18: 25,272,081 (GRCm39)	I258N	possibly damaging	Het
Vmn2r78	A	T	7: 86,571,545 (GRCm39)	R452*	probably null	Het
Wasf3	A	T	5: 146,390,227 (GRCm39)	I124F	possibly damaging	Het
Wbp11	T	C	6: 136,797,523 (GRCm39)	T299A	probably benign	Het
Wdr25	T	C	12: 108,990,991 (GRCm39)	S41P	probably damaging	Het
Zfp874b	T	C	13: 67,622,962 (GRCm39)	D116G	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
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
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'- ACAGGAGCATAGTATGAACTCTAAG -3'
(R):5'- CCAAACAACTTCATATATGAGTGCC -3'

Sequencing Primer
(F):5'- AGCTCTTCTAAGCCCTAAGGGTAG -3'
(R):5'- ATCCTCTGGAGCTGGAGTGAC -3'

Posted On

2018-05-04