Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Gm20422'

15007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm20422

Ensembl Gene

ENSMUSG00000092544

Gene Name

predicted gene 20422

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

70195512-70227536 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 70195642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 212 (C212*)

Ref Sequence

ENSEMBL: ENSMUSP00000123252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130458] [ENSMUST00000149782] [ENSMUST00000154063]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000126915

SMART Domains

Protein: ENSMUSP00000122850
Gene: ENSMUSG00000092544

Domain	Start	End	E-Value	Type
KRAB	16	73	1.96e-17	SMART
PDB:2I13\|B	104	210	3e-6	PDB
SCOP:d1fgja_	114	216	2e-6	SMART
Blast:KRAB	189	209	3e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000130458
AA Change: C270*

SMART Domains

Protein: ENSMUSP00000119087
Gene: ENSMUSG00000092260
AA Change: C270*

Domain	Start	End	E-Value	Type
KRAB	4	61	1.96e-17	SMART
ZnF_C2H2	162	184	7.37e1	SMART
ZnF_C2H2	213	235	1.69e-3	SMART
ZnF_C2H2	240	262	8.47e-4	SMART
ZnF_C2H2	268	290	7.15e-2	SMART
ZnF_C2H2	296	318	3.83e-2	SMART
ZnF_C2H2	324	346	4.17e-3	SMART
ZnF_C2H2	352	374	5.99e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000149782
AA Change: C212*

SMART Domains

Protein: ENSMUSP00000123252
Gene: ENSMUSG00000092544
AA Change: C212*

Domain	Start	End	E-Value	Type
KRAB	80	139	1.2e-17	SMART
ZnF_C2H2	155	177	1.69e-3	SMART
ZnF_C2H2	182	204	8.47e-4	SMART
ZnF_C2H2	210	232	7.15e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154063

SMART Domains

Protein: ENSMUSP00000117867
Gene: ENSMUSG00000092260

Domain	Start	End	E-Value	Type
KRAB	4	61	1.96e-17	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	probably benign	Het

Other mutations in Gm20422

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Gm20422	APN	8	70,195,776 (GRCm39)	missense	possibly damaging	0.71
IGL03326:Gm20422	APN	8	70,219,348 (GRCm39)	missense	possibly damaging	0.53
R0238:Gm20422	UTSW	8	70,219,365 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06