Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Gpatch2l'

289716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

86241858-86291784 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 86256937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071106] [ENSMUST00000221368]

AlphaFold

Q6PE65

Predicted Effect

probably benign
Transcript: ENSMUST00000071106

SMART Domains

Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
low complexity region	127	135	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	413	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220810

Predicted Effect

probably benign
Transcript: ENSMUST00000221368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222299

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,296,540	N526Y	probably damaging	Het
A4gnt	C	T	9: 99,620,213	T142I	probably benign	Het
Acaca	A	G	11: 84,214,258	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769		probably benign	Het
Col6a6	C	T	9: 105,784,101	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834		probably null	Het
Dctn2	T	C	10: 127,275,821		probably benign	Het
Dnm1l	A	G	16: 16,342,740		probably benign	Het
Dpp4	T	C	2: 62,334,644	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390	W181*	probably null	Het
G2e3	T	A	12: 51,369,158	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605	M49I	probably benign	Het
Kcnq4	A	G	4: 120,715,854	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636		probably null	Het
Olfr1442	T	C	19: 12,674,238	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117		probably null	Het
Rrp7a	T	C	15: 83,122,691	E15G	probably benign	Het
Scn1a	T	A	2: 66,277,661	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093		probably null	Het
Tbxas1	A	G	6: 39,023,080	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267	L34Q	probably damaging	Het

Other mutations in Gpatch2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Gpatch2l	APN	12	86288961	utr 3 prime	probably benign
IGL03131:Gpatch2l	APN	12	86281511	missense	probably benign	0.00
R0546:Gpatch2l	UTSW	12	86288848	makesense	probably null
R1349:Gpatch2l	UTSW	12	86260709	missense	possibly damaging	0.94
R1368:Gpatch2l	UTSW	12	86260665	missense	possibly damaging	0.73
R1600:Gpatch2l	UTSW	12	86256934	critical splice donor site	probably null
R1701:Gpatch2l	UTSW	12	86288952	missense	probably benign	0.00
R2656:Gpatch2l	UTSW	12	86288810	missense	probably damaging	1.00
R3149:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3150:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3176:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3177:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3276:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3277:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R4342:Gpatch2l	UTSW	12	86260679	missense	probably benign	0.00
R5161:Gpatch2l	UTSW	12	86267176	missense	probably benign	0.17
R5712:Gpatch2l	UTSW	12	86244480	missense	probably damaging	1.00
R6343:Gpatch2l	UTSW	12	86260605	nonsense	probably null
R6899:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6910:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6911:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6912:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6917:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6930:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6994:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6995:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6996:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6998:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6999:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7000:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7001:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7002:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7003:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7010:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7011:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7203:Gpatch2l	UTSW	12	86288937	missense	probably benign	0.40
R7239:Gpatch2l	UTSW	12	86260575	critical splice acceptor site	probably null
R7327:Gpatch2l	UTSW	12	86256872	missense	probably damaging	1.00
R7419:Gpatch2l	UTSW	12	86265251	critical splice donor site	probably null
R8231:Gpatch2l	UTSW	12	86244189	missense	probably damaging	1.00
R8876:Gpatch2l	UTSW	12	86261631	missense	probably damaging	0.99
R9189:Gpatch2l	UTSW	12	86244378	missense	probably benign	0.13
R9284:Gpatch2l	UTSW	12	86244109	missense	probably benign	0.01
R9432:Gpatch2l	UTSW	12	86260634	missense	probably damaging	0.99

Posted On

2015-04-16