Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02746:Gpatch4'

306050

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpatch4

Ensembl Gene

ENSMUSG00000028069

Gene Name

G patch domain containing 4

Synonyms

Gpatc4, 2610029K21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

IGL02746

Quality Score

Status

Chromosome

Chromosomal Location

87950415-87963300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87961698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 119 (E119A)

Ref Sequence

ENSEMBL: ENSMUSP00000141786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029707] [ENSMUST00000029708] [ENSMUST00000166021] [ENSMUST00000193398] [ENSMUST00000194258]

AlphaFold

Q3TFK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029707
AA Change: E119A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029707
Gene: ENSMUSG00000028069
AA Change: E119A

Domain	Start	End	E-Value	Type
G_patch	9	55	2.3e-8	SMART
low complexity region	204	213	N/A	INTRINSIC
low complexity region	234	252	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC
low complexity region	282	289	N/A	INTRINSIC
low complexity region	350	363	N/A	INTRINSIC
low complexity region	396	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000029708

SMART Domains

Protein: ENSMUSP00000029708
Gene: ENSMUSG00000028070

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:YjeF_N	74	241	6e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166021
AA Change: E119A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132699
Gene: ENSMUSG00000028069
AA Change: E119A

Domain	Start	End	E-Value	Type
G_patch	9	55	2.3e-8	SMART
low complexity region	204	213	N/A	INTRINSIC
low complexity region	234	252	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC
low complexity region	282	289	N/A	INTRINSIC
low complexity region	350	363	N/A	INTRINSIC
low complexity region	396	408	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193398
AA Change: E119A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141786
Gene: ENSMUSG00000028069
AA Change: E119A

Domain	Start	End	E-Value	Type
G_patch	9	55	2.3e-8	SMART
low complexity region	204	213	N/A	INTRINSIC
low complexity region	234	252	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC
low complexity region	282	289	N/A	INTRINSIC
low complexity region	350	363	N/A	INTRINSIC
low complexity region	396	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194258
AA Change: E119A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141477
Gene: ENSMUSG00000028069
AA Change: E119A

Domain	Start	End	E-Value	Type
G_patch	9	55	1.3e-10	SMART
low complexity region	204	213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194380

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,646,462 (GRCm39)		probably benign	Het
Adck5	A	T	15: 76,473,354 (GRCm39)	M68L	probably benign	Het
Aox3	T	C	1: 58,222,701 (GRCm39)	S1165P	possibly damaging	Het
Arhgap23	A	G	11: 97,345,030 (GRCm39)		probably benign	Het
Brdt	T	C	5: 107,518,190 (GRCm39)	L771P	probably benign	Het
Ccdc134	T	A	15: 82,015,938 (GRCm39)		probably benign	Het
Cdc42bpa	T	A	1: 179,939,312 (GRCm39)	D41E	possibly damaging	Het
Cdkn2aipnl	A	G	11: 51,861,047 (GRCm39)	T106A	probably damaging	Het
Cox10	G	A	11: 63,855,357 (GRCm39)		probably benign	Het
Cubn	C	A	2: 13,449,851 (GRCm39)	C891F	probably damaging	Het
Cyb5rl	A	G	4: 106,925,836 (GRCm39)	E6G	probably benign	Het
Dhrs2	T	C	14: 55,478,628 (GRCm39)	S258P	probably damaging	Het
Dnah10	T	C	5: 124,807,150 (GRCm39)	L145P	possibly damaging	Het
Epc1	A	G	18: 6,454,317 (GRCm39)	I129T	probably benign	Het
Gkn3	A	G	6: 87,364,339 (GRCm39)		probably benign	Het
Gls2	A	G	10: 128,036,825 (GRCm39)	D202G	probably damaging	Het
Gm45844	A	G	7: 7,243,178 (GRCm39)	F24S	probably damaging	Het
Golph3	C	T	15: 12,349,501 (GRCm39)	R174W	probably damaging	Het
Hemgn	A	G	4: 46,400,740 (GRCm39)	L40P	probably damaging	Het
Ifi27l2b	A	T	12: 103,417,493 (GRCm39)	D231E	unknown	Het
Klf12	T	C	14: 100,137,656 (GRCm39)	I297V	probably benign	Het
Lzts3	T	C	2: 130,478,261 (GRCm39)	N165S	probably damaging	Het
Nlrp4e	G	A	7: 23,021,264 (GRCm39)	V584I	probably benign	Het
Npas4	T	C	19: 5,036,695 (GRCm39)	T490A	probably damaging	Het
Pikfyve	C	A	1: 65,273,431 (GRCm39)	H615Q	probably damaging	Het
Plce1	T	A	19: 38,686,916 (GRCm39)	L608Q	probably damaging	Het
Pou2f3	T	G	9: 43,058,143 (GRCm39)	Q67H	probably benign	Het
Rev3l	T	C	10: 39,700,585 (GRCm39)	L1694P	probably damaging	Het
Rpl4	A	G	9: 64,082,932 (GRCm39)	T117A	probably benign	Het
Scn5a	T	C	9: 119,379,703 (GRCm39)	N194D	probably damaging	Het
Sec16b	T	A	1: 157,373,859 (GRCm39)		probably benign	Het
Slc12a5	A	T	2: 164,816,836 (GRCm39)	M97L	probably benign	Het
Stard13	A	G	5: 150,970,322 (GRCm39)		probably benign	Het
Stau1	A	C	2: 166,796,818 (GRCm39)		probably null	Het
Thg1l	A	T	11: 45,839,054 (GRCm39)	C219*	probably null	Het
Togaram1	G	T	12: 65,013,270 (GRCm39)	E174*	probably null	Het
Vmn1r237	T	C	17: 21,534,480 (GRCm39)	S68P	possibly damaging	Het
Vmn2r3	A	T	3: 64,167,239 (GRCm39)	S631T	possibly damaging	Het

Other mutations in Gpatch4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Gpatch4	APN	3	87,962,312 (GRCm39)	missense	probably damaging	1.00
IGL02975:Gpatch4	APN	3	87,961,743 (GRCm39)	missense	possibly damaging	0.93
R0395:Gpatch4	UTSW	3	87,961,661 (GRCm39)	splice site	probably benign
R0502:Gpatch4	UTSW	3	87,962,672 (GRCm39)	missense	probably benign	0.00
R0505:Gpatch4	UTSW	3	87,958,524 (GRCm39)	missense	probably damaging	1.00
R0529:Gpatch4	UTSW	3	87,958,583 (GRCm39)	missense	probably damaging	1.00
R1895:Gpatch4	UTSW	3	87,959,409 (GRCm39)	missense	probably damaging	1.00
R5464:Gpatch4	UTSW	3	87,962,062 (GRCm39)	critical splice donor site	probably null
R6141:Gpatch4	UTSW	3	87,962,047 (GRCm39)	nonsense	probably null
R6453:Gpatch4	UTSW	3	87,962,312 (GRCm39)	missense	probably damaging	1.00
R7432:Gpatch4	UTSW	3	87,959,003 (GRCm39)	missense	probably damaging	1.00
R9358:Gpatch4	UTSW	3	87,962,452 (GRCm39)	nonsense	probably null

Posted On

2015-04-16