Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01103:Gm20422'

51766

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 #

IGL01103

Quality Score

Status

Chromosome

Chromosomal Location

70195512-70227536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70195776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 168 (T168A)

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 benign
Transcript: ENSMUST00000130458
AA Change: T226A

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119087
Gene: ENSMUSG00000092260
AA Change: T226A

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

possibly damaging
Transcript: ENSMUST00000149782
AA Change: T168A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123252
Gene: ENSMUSG00000092544
AA Change: T168A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calhm6	A	T	10: 34,002,361 (GRCm39)	C241S	probably benign	Het
Cdh3	A	G	8: 107,281,937 (GRCm39)	Y775C	probably damaging	Het
Clip2	A	G	5: 134,521,204 (GRCm39)	S980P	possibly damaging	Het
Ddx51	C	T	5: 110,803,729 (GRCm39)	A375V	probably benign	Het
Eif4e	A	G	3: 138,253,412 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,577 (GRCm39)	D588G	probably benign	Het
Fer1l4	C	T	2: 155,886,361 (GRCm39)		probably null	Het
Fli1	T	C	9: 32,335,236 (GRCm39)	N399D	probably benign	Het
Kcnk12	C	T	17: 88,054,195 (GRCm39)	G156R	probably damaging	Het
Kntc1	T	A	5: 123,902,283 (GRCm39)	S309T	probably damaging	Het
Lcp1	T	A	14: 75,464,533 (GRCm39)		probably null	Het
Neo1	A	G	9: 58,788,082 (GRCm39)	C1324R	possibly damaging	Het
Nin	G	A	12: 70,103,532 (GRCm39)	T236I	probably damaging	Het
Npy6r	A	G	18: 44,408,585 (GRCm39)	E2G	probably benign	Het
Numa1	T	C	7: 101,650,778 (GRCm39)	V136A	probably benign	Het
Pcdhb8	A	G	18: 37,490,253 (GRCm39)	K644E	probably damaging	Het
Polr3h	T	A	15: 81,806,697 (GRCm39)	N41Y	probably damaging	Het
Prrx1	T	C	1: 163,089,531 (GRCm39)	T99A	probably damaging	Het
Prss1l	T	A	6: 41,374,091 (GRCm39)	V231D	probably damaging	Het
Rbm18	G	A	2: 36,024,184 (GRCm39)	R26*	probably null	Het
Repin1	G	T	6: 48,574,887 (GRCm39)		probably benign	Het
Rnase1	T	C	14: 51,383,079 (GRCm39)	N92D	probably benign	Het
Sidt1	A	T	16: 44,063,906 (GRCm39)	C782*	probably null	Het
Slc27a6	T	A	18: 58,689,836 (GRCm39)	S101T	probably benign	Het
Stard9	A	G	2: 120,532,328 (GRCm39)	N2862D	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tril	A	G	6: 53,796,023 (GRCm39)	Y400H	probably damaging	Het
Trim34b	T	C	7: 103,979,106 (GRCm39)	C118R	probably damaging	Het
Vwa7	T	C	17: 35,243,918 (GRCm39)	V784A	probably damaging	Het

Other mutations in Gm20422

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Gm20422	APN	8	70,195,642 (GRCm39)	nonsense	probably null
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

2013-06-21