Mutagenetix > Incidental Mutation

Incidental Mutation 'R6569:Gpatch1'

526190

Institutional Source

Beutler Lab

Gene Symbol

Gpatch1

Ensembl Gene

ENSMUSG00000063808

Gene Name

G patch domain containing 1

Synonyms

Gpatc1, 1300003A17Rik

MMRRC Submission

044693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6569 (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 34991163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 627 (D627G)

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: D627G

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

SMART Domains

Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: D627G

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: D627G

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

SMART Domains

Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: D627G

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: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	A	6: 85,618,321 (GRCm39)	V2789D	probably benign	Het
Ccdc40	A	G	11: 119,133,560 (GRCm39)	T567A	probably damaging	Het
Col7a1	T	G	9: 108,807,178 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,682,163 (GRCm39)	Q173L	probably damaging	Het
Cuzd1	T	C	7: 130,913,486 (GRCm39)	Y377C	probably damaging	Het
Echdc1	T	C	10: 29,198,280 (GRCm39)	M75T	probably damaging	Het
Faah	G	T	4: 115,874,829 (GRCm39)	A9E	probably benign	Het
Grid1	G	T	14: 35,045,296 (GRCm39)	V380F	possibly damaging	Het
Klf4	T	C	4: 55,530,394 (GRCm39)	Y239C	probably damaging	Het
Mkx	C	A	18: 6,992,820 (GRCm39)	E155*	probably null	Het
Mmp11	G	A	10: 75,763,216 (GRCm39)		probably benign	Het
Mms19	T	C	19: 41,952,807 (GRCm39)	K101E	possibly damaging	Het
Mrpl23	C	A	7: 142,088,776 (GRCm39)	R44S	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Or4a75	A	G	2: 89,448,359 (GRCm39)	F59S	possibly damaging	Het
Or7e166	G	A	9: 19,624,638 (GRCm39)	V172I	probably benign	Het
Or8u10	A	G	2: 85,915,849 (GRCm39)	S91P	possibly damaging	Het
Pcdhgc5	C	T	18: 37,953,248 (GRCm39)	P174L	probably damaging	Het
Phf20l1	A	T	15: 66,501,673 (GRCm39)	D619V	probably damaging	Het
Plcz1	C	T	6: 139,953,433 (GRCm39)	A395T	possibly damaging	Het
Polr1f	T	A	12: 33,487,882 (GRCm39)	C266S	probably benign	Het
Rbm45	A	G	2: 76,209,416 (GRCm39)	D410G	probably damaging	Het
Sh3bp1	T	C	15: 78,795,896 (GRCm39)	L675P	probably damaging	Het
Taf6l	G	A	19: 8,750,074 (GRCm39)	T208I	probably damaging	Het
Tnpo3	A	G	6: 29,571,065 (GRCm39)	I443T	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,425 (GRCm39)	L48P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,941 (GRCm39)	V111A	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
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
R6386:Gpatch1	UTSW	7	34,991,265 (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'- GACCACAGGAGCATAGTATGAACTC -3'
(R):5'- AGACTAGTGAGGTCAGTTCTCTG -3'

Sequencing Primer
(F):5'- CGGTAGCTTAAGTCCAGTTCCAG -3'
(R):5'- CAGTTCTCTGAGTACAGCTGACAG -3'

Posted On

2018-06-22