Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03326:Gm20422'

416644

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 #

IGL03326

Quality Score

Status

Chromosome

Chromosomal Location

70195512-70227536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70219348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000123252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131784] [ENSMUST00000137573] [ENSMUST00000149782]

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: ENSMUST00000131784
AA Change: T59A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116972
Gene: ENSMUSG00000043090
AA Change: T59A

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	2e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000137573
AA Change: T91A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119781
Gene: ENSMUSG00000043090
AA Change: T91A

Domain	Start	End	E-Value	Type
KRAB	4	67	4.26e-18	SMART
ZnF_C2H2	162	184	6.42e-4	SMART
ZnF_C2H2	190	212	3.69e-4	SMART
ZnF_C2H2	218	240	3.89e-3	SMART
ZnF_C2H2	246	268	3.34e-2	SMART
ZnF_C2H2	274	296	1.76e-1	SMART
ZnF_C2H2	302	324	5.42e-2	SMART
ZnF_C2H2	330	352	1.38e-3	SMART
ZnF_C2H2	358	380	6.78e-3	SMART
ZnF_C2H2	386	408	2.09e-3	SMART
ZnF_C2H2	414	436	9.44e-2	SMART
ZnF_C2H2	442	464	2.95e-3	SMART
ZnF_C2H2	470	492	9.73e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149782
AA Change: T59A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123252
Gene: ENSMUSG00000092544
AA Change: T59A

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

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
Adam22	A	G	5: 8,177,421 (GRCm39)	S563P	probably damaging	Het
Adamtsl1	A	T	4: 86,170,985 (GRCm39)		probably benign	Het
Ampd2	T	A	3: 107,986,603 (GRCm39)	Y227F	probably benign	Het
Cyp2c67	A	T	19: 39,631,713 (GRCm39)		probably null	Het
Gk5	G	A	9: 96,019,892 (GRCm39)		probably null	Het
Gria1	A	T	11: 57,208,599 (GRCm39)	K831N	probably damaging	Het
Hspa5	C	A	2: 34,666,129 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,054 (GRCm39)	D75G	probably benign	Het
Jmjd8	T	C	17: 26,048,139 (GRCm39)		probably null	Het
Kcnh2	A	T	5: 24,531,411 (GRCm39)	F158Y	probably damaging	Het
Kmt2a	A	T	9: 44,730,044 (GRCm39)	C456*	probably null	Het
Krtap5-2	A	T	7: 141,729,100 (GRCm39)	C193*	probably null	Het
Mrpl2	T	C	17: 46,960,853 (GRCm39)	V249A	possibly damaging	Het
Obscn	A	T	11: 58,923,728 (GRCm39)	I6433N	probably damaging	Het
Or52a20	T	A	7: 103,366,069 (GRCm39)	F89L	probably benign	Het
Or5p63	T	C	7: 107,810,837 (GRCm39)	I300V	probably benign	Het
Or5w14	A	C	2: 87,542,039 (GRCm39)	D70E	probably damaging	Het
Plb1	C	T	5: 32,488,671 (GRCm39)	T985I	probably benign	Het
Polr3b	T	C	10: 84,503,259 (GRCm39)	I392T	probably benign	Het
Ppp1r1c	A	T	2: 79,638,727 (GRCm39)	N107I	probably benign	Het
Ppp1r3a	C	T	6: 14,719,765 (GRCm39)	R383Q	probably damaging	Het
Ptpre	T	C	7: 135,274,546 (GRCm39)	I499T	probably damaging	Het
Rapgef2	A	G	3: 78,999,140 (GRCm39)	I544T	probably damaging	Het
Rbm20	A	T	19: 53,802,431 (GRCm39)	Q313L	possibly damaging	Het
Rnf38	A	T	4: 44,149,182 (GRCm39)	I55N	probably benign	Het
Rtel1	T	C	2: 180,997,354 (GRCm39)		probably benign	Het
Scube1	T	C	15: 83,491,617 (GRCm39)	Y959C	probably damaging	Het
Selenow	A	G	7: 15,654,051 (GRCm39)		probably benign	Het
Tbx5	T	C	5: 120,009,363 (GRCm39)	Y291H	probably damaging	Het
Tln2	A	T	9: 67,241,539 (GRCm39)	M1022K	possibly damaging	Het
Tmtc4	G	A	14: 123,182,952 (GRCm39)	R249W	probably damaging	Het
Trim34a	A	G	7: 103,910,587 (GRCm39)	Q463R	probably benign	Het
Vps35	C	A	8: 86,001,526 (GRCm39)	E431*	probably null	Het
Wdpcp	T	C	11: 21,835,048 (GRCm39)	C684R	probably benign	Het
Xirp2	G	A	2: 67,312,590 (GRCm39)	V20I	probably benign	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
IGL01103:Gm20422	APN	8	70,195,776 (GRCm39)	missense	possibly damaging	0.71
R0238:Gm20422	UTSW	8	70,219,365 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02