Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02670:Gm572'

302901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm572

Ensembl Gene

ENSMUSG00000070577

Gene Name

predicted gene 572

Synonyms

b2b1167Clo, LOC230909

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02670

Quality Score

Status

Chromosome

Chromosomal Location

148643317-148671572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148651228 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 38 (H38L)

Ref Sequence

ENSEMBL: ENSMUSP00000101323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105698]

Predicted Effect

probably benign
Transcript: ENSMUST00000105698
AA Change: H38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: H38L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF4556	144	358	1.9e-117	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,967,305	Q2193*	probably null	Het
Asb1	T	C	1: 91,546,918		probably benign	Het
Cnot6	G	A	11: 49,685,114	Q178*	probably null	Het
Col5a1	C	T	2: 27,974,715	A737V	unknown	Het
Cyp27b1	T	C	10: 127,050,358	S303P	probably benign	Het
Dnah5	T	C	15: 28,409,296	L3620P	probably damaging	Het
Dock7	A	T	4: 98,966,286		probably null	Het
Fam161b	T	C	12: 84,357,594	D104G	probably benign	Het
Fam8a1	A	G	13: 46,673,604	M284V	possibly damaging	Het
Fkbp3	T	A	12: 65,069,103	K65*	probably null	Het
Gatb	A	G	3: 85,613,551		probably null	Het
Gm6576	A	C	15: 27,025,512		noncoding transcript	Het
L2hgdh	G	A	12: 69,692,480	R406W	possibly damaging	Het
Lmo7	A	T	14: 101,880,980	T214S	probably damaging	Het
Map3k12	T	C	15: 102,503,546	H361R	probably benign	Het
Mios	T	C	6: 8,235,378		probably benign	Het
Mta1	T	C	12: 113,130,121	L315P	probably damaging	Het
Pask	A	C	1: 93,310,818	V1315G	probably damaging	Het
Pias4	A	T	10: 81,164,070	C50S	probably damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sgk1	T	A	10: 21,928,546	C92S	probably benign	Het
Slc2a13	C	T	15: 91,497,509	G259E	probably damaging	Het
Slc5a4b	A	G	10: 76,075,100	C301R	probably damaging	Het
Sstr4	G	T	2: 148,396,533	G355*	probably null	Het
Tnrc6a	T	A	7: 123,171,312	L775Q	possibly damaging	Het
Vmn1r218	A	G	13: 23,137,004	I94V	probably benign	Het
Xpa	A	G	4: 46,185,682	F99L	probably benign	Het

Other mutations in Gm572

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Gm572	APN	4	148667392	missense	possibly damaging	0.93
IGL01766:Gm572	APN	4	148654895	missense	possibly damaging	0.53
IGL02716:Gm572	APN	4	148654870	missense	probably benign	0.01
PIT1430001:Gm572	UTSW	4	148671393	missense	unknown
R1346:Gm572	UTSW	4	148654897	missense	possibly damaging	0.96
R1546:Gm572	UTSW	4	148666819	missense	possibly damaging	0.71
R1564:Gm572	UTSW	4	148651186	missense	possibly damaging	0.53
R1672:Gm572	UTSW	4	148668509	missense	possibly damaging	0.86
R2516:Gm572	UTSW	4	148664384	missense	possibly damaging	0.93
R3852:Gm572	UTSW	4	148668872	missense	possibly damaging	0.71
R4366:Gm572	UTSW	4	148654865	missense	possibly damaging	0.85
R4884:Gm572	UTSW	4	148667362	missense	possibly damaging	0.85
R4888:Gm572	UTSW	4	148666845	critical splice donor site	probably null
R5026:Gm572	UTSW	4	148654844	missense	possibly damaging	0.92
R5121:Gm572	UTSW	4	148666845	critical splice donor site	probably null
R5797:Gm572	UTSW	4	148666798	missense	probably benign	0.02
R5988:Gm572	UTSW	4	148668507	missense	possibly damaging	0.85
R6827:Gm572	UTSW	4	148658086	missense	possibly damaging	0.96
R7709:Gm572	UTSW	4	148668951	missense	probably damaging	0.98
RF029:Gm572	UTSW	4	148671393	frame shift	probably null
RF030:Gm572	UTSW	4	148671393	frame shift	probably null

Posted On

2015-04-16