Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02454:Gm10392'

293770

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10392

Ensembl Gene

ENSMUSG00000072673

Gene Name

predicted gene 10392

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

77407486-77410024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77409216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 310 (E310V)

Ref Sequence

ENSEMBL: ENSMUSP00000091541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094004] [ENSMUST00000100807]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094004
AA Change: E310V

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

SMART Domains

Protein: ENSMUSP00000091541
Gene: ENSMUSG00000000686
AA Change: E310V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	69	84	N/A	INTRINSIC
low complexity region	226	239	N/A	INTRINSIC
SCOP:d1din__	319	411	8e-7	SMART
low complexity region	418	432	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100807
AA Change: L70H

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098370
Gene: ENSMUSG00000072673
AA Change: L70H

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136101

SMART Domains

Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328

Domain	Start	End	E-Value	Type
low complexity region	114	127	N/A	INTRINSIC
low complexity region	167	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139195

Predicted Effect

probably benign
Transcript: ENSMUST00000145676

Predicted Effect

probably benign
Transcript: ENSMUST00000147386

SMART Domains

Protein: ENSMUSP00000116682
Gene: ENSMUSG00000000686

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz2	T	G	11: 109,324,887 (GRCm39)		probably benign	Het
Atp13a5	A	G	16: 29,051,560 (GRCm39)	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,579,141 (GRCm39)	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,864,318 (GRCm39)	D122E	probably damaging	Het
Crtc2	G	A	3: 90,166,474 (GRCm39)	G65S	probably benign	Het
Dnah17	T	C	11: 117,971,593 (GRCm39)	T2160A	probably damaging	Het
Fads3	T	G	19: 10,032,483 (GRCm39)	L278R	probably damaging	Het
Foxp4	A	T	17: 48,186,507 (GRCm39)	L424*	probably null	Het
Gm11554	T	A	11: 99,694,815 (GRCm39)	S133C	unknown	Het
Hacd2	T	A	16: 34,926,761 (GRCm39)	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113 (GRCm38)	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674 (GRCm39)		probably null	Het
Mtfr1l	A	T	4: 134,257,696 (GRCm39)	L111H	probably damaging	Het
Mysm1	A	G	4: 94,858,741 (GRCm39)		probably benign	Het
Or10j2	C	A	1: 173,098,507 (GRCm39)	S255Y	probably damaging	Het
Or52d1	T	C	7: 103,755,819 (GRCm39)	V111A	probably damaging	Het
Plec	A	T	15: 76,075,231 (GRCm39)	F357I	probably damaging	Het
Polr3a	C	A	14: 24,525,891 (GRCm39)	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,411,456 (GRCm39)	K764R	probably benign	Het
Pxn	C	T	5: 115,690,325 (GRCm39)	P256S	probably damaging	Het
Rbm25	T	A	12: 83,707,096 (GRCm39)	F247L	probably benign	Het
Rfx4	C	T	10: 84,675,970 (GRCm39)	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,526,499 (GRCm39)		noncoding transcript	Het
Scn11a	A	G	9: 119,587,610 (GRCm39)	I1378T	probably benign	Het
Siglecg	T	C	7: 43,058,319 (GRCm39)	S69P	probably benign	Het
Stox1	T	C	10: 62,503,605 (GRCm39)	Y61C	probably damaging	Het
Tex55	T	A	16: 38,648,309 (GRCm39)	T267S	probably benign	Het
Tnks	C	T	8: 35,298,882 (GRCm39)		probably benign	Het
Tpr	A	G	1: 150,306,943 (GRCm39)	S1587G	probably benign	Het
Trappc6b	A	G	12: 59,090,433 (GRCm39)	*97Q	probably null	Het
Usf3	T	C	16: 44,037,545 (GRCm39)	V675A	probably damaging	Het
Wdr7	C	T	18: 63,929,299 (GRCm39)	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,552,254 (GRCm39)	C618S	probably benign	Het
Zfp398	T	C	6: 47,817,301 (GRCm39)	V47A	possibly damaging	Het
Zzz3	A	G	3: 152,134,211 (GRCm39)	N423S	probably benign	Het

Other mutations in Gm10392

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Gm10392	APN	11	77,408,306 (GRCm39)	missense	probably benign	0.07
IGL02710:Gm10392	APN	11	77,409,294 (GRCm39)	missense	possibly damaging	0.66
R1583:Gm10392	UTSW	11	77,408,307 (GRCm39)	missense	probably benign	0.07
R5648:Gm10392	UTSW	11	77,408,306 (GRCm39)	missense	probably benign	0.07
R8772:Gm10392	UTSW	11	77,409,280 (GRCm39)	missense	possibly damaging	0.46

Posted On

2015-04-16