Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02487:Gm29253'

295496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm29253

Ensembl Gene

ENSMUSG00000099519

Gene Name

predicted gene 29253

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02487

Quality Score

Status

Chromosome

Chromosomal Location

75148375-75161790 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 75149321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000161215] [ENSMUST00000162768]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027394

SMART Domains

Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART
UIM	221	240	1.26e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000027396

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198

Domain	Start	End	E-Value	Type
Pfam:MTABC_N	6	255	7.8e-80	PFAM
Pfam:ABC_membrane	265	544	3.7e-34	PFAM
AAA	615	816	1.29e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160282

Predicted Effect

probably benign
Transcript: ENSMUST00000160439

SMART Domains

Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART
UIM	221	240	1.26e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160757

Predicted Effect

probably benign
Transcript: ENSMUST00000161215

SMART Domains

Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198

Domain	Start	End	E-Value	Type
SCOP:d1jj7a_	5	78	8e-23	SMART
Blast:AAA	23	71	9e-25	BLAST
PDB:3NHB\|A	23	94	3e-36	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000162768

SMART Domains

Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186227

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	A	11: 54,227,769 (GRCm39)	I308N	possibly damaging	Het
Adal	C	T	2: 120,985,877 (GRCm39)	T204I	probably benign	Het
Akirin1	A	G	4: 123,637,357 (GRCm39)	F76S	probably benign	Het
Arhgef5	A	T	6: 43,260,916 (GRCm39)	N1447I	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
B230217C12Rik	A	G	11: 97,733,054 (GRCm39)	N125S	probably benign	Het
Dcaf11	G	T	14: 55,806,571 (GRCm39)	K457N	probably benign	Het
Dnah10	G	A	5: 124,870,916 (GRCm39)	V2348M	possibly damaging	Het
Eif4g3	T	C	4: 137,930,689 (GRCm39)	V1665A	possibly damaging	Het
Fat4	A	T	3: 38,941,394 (GRCm39)	I96F	probably damaging	Het
Gvin-ps6	A	G	7: 106,022,471 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	A	17: 33,867,787 (GRCm39)	G676C	probably damaging	Het
Iah1	T	C	12: 21,371,440 (GRCm39)	M185T	probably damaging	Het
Klc1	A	T	12: 111,738,886 (GRCm39)	I45F	probably damaging	Het
Lce1h	G	A	3: 92,671,048 (GRCm39)	P35S	unknown	Het
Lrrc37a	T	C	11: 103,386,863 (GRCm39)	E2419G	unknown	Het
Lrrc8c	T	A	5: 105,754,457 (GRCm39)	S77R	probably benign	Het
Mcm3ap	T	A	10: 76,343,389 (GRCm39)		probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ntng1	A	T	3: 109,842,363 (GRCm39)	S137T	probably damaging	Het
Odf2	C	A	2: 29,810,851 (GRCm39)	A578E	possibly damaging	Het
Pecam1	G	A	11: 106,562,606 (GRCm39)	T698I	probably damaging	Het
Pex10	A	T	4: 155,155,190 (GRCm39)	H288L	probably damaging	Het
Pkhd1l1	T	C	15: 44,322,822 (GRCm39)	V36A	possibly damaging	Het
Podxl	T	C	6: 31,499,957 (GRCm39)	*504W	probably null	Het
Rab42	A	G	4: 132,029,614 (GRCm39)	S203P	probably benign	Het
Rsf1	T	C	7: 97,288,698 (GRCm39)	S192P	probably damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sost	C	A	11: 101,857,633 (GRCm39)	R56L	possibly damaging	Het
Speer4a3	T	A	5: 26,156,605 (GRCm39)	I125F	probably benign	Het
Spmip10	T	A	18: 56,727,571 (GRCm39)	W90R	possibly damaging	Het
Sptbn4	A	G	7: 27,118,522 (GRCm39)	V264A	probably damaging	Het
Stx3	A	G	19: 11,760,469 (GRCm39)	V236A	probably damaging	Het
Syt2	T	C	1: 134,668,603 (GRCm39)	F5S	probably damaging	Het
Thrap3	T	C	4: 126,060,794 (GRCm39)	D855G	possibly damaging	Het
Ticrr	T	C	7: 79,332,769 (GRCm39)	V874A	possibly damaging	Het
Tmem26	A	G	10: 68,614,563 (GRCm39)	E326G	probably benign	Het
Tsga13	A	T	6: 30,884,362 (GRCm39)	Y119N	probably damaging	Het
Tspoap1	C	T	11: 87,653,342 (GRCm39)	T136I	possibly damaging	Het
Ttc21b	T	C	2: 66,065,500 (GRCm39)	T425A	probably benign	Het
Ttc27	A	G	17: 75,163,549 (GRCm39)	Y719C	probably damaging	Het
Usp10	C	A	8: 120,675,514 (GRCm39)	S511Y	probably damaging	Het
Vmn1r197	A	G	13: 22,512,792 (GRCm39)	M238V	probably damaging	Het

Other mutations in Gm29253

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Gm29253	APN	1	75,151,118 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16