Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03053:Mb21d1'

409141

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mb21d1

Ensembl Gene

ENSMUSG00000032344

Gene Name

Mab-21 domain containing 1

Synonyms

E330016A19Rik, cGas

Accession Numbers

NCBI RefSeq: NM_173386; MGI:2442261

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

78430526-78443237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78437437 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 234 (F234Y)

Ref Sequence

ENSEMBL: ENSMUSP00000034898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034898] [ENSMUST00000070742]

Predicted Effect

probably benign
Transcript: ENSMUST00000034898
AA Change: F234Y

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: F234Y

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	148	163	N/A	INTRINSIC
Mab-21	199	394	1.89e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070742
AA Change: F234Y

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: F234Y

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	148	163	N/A	INTRINSIC
Mab-21	199	498	2.79e-91	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000127190
AA Change: F169Y

SMART Domains

Protein: ENSMUSP00000114277
Gene: ENSMUSG00000032344
AA Change: F169Y

Domain	Start	End	E-Value	Type
low complexity region	84	99	N/A	INTRINSIC
Pfam:Mab-21	136	229	6.8e-16	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a DNA binding cytosolic protein that catalyzes the synthesis of cyclic guanosine monophosphate-adenosine monophosphate (cGAMP) after sensing the presence of DNA in the cytoplasm. cGAMP binds another protein, Stimulator of interferon genes (STING), leading to the induction of interferons, and a host immune response. Reduced expression of this gene inhibits interferon induction in the presence of some viral infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to viral infection and abnormal innate immunity. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,755,853	Q342*	probably null	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 155,966,464	N297Y	probably damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Ehd3	A	G	17: 73,805,442	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Kit	A	G	5: 75,610,914	N244D	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rc3h1	T	A	1: 160,955,817	D734E	probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		probably benign	Het

Other mutations in Mb21d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Mb21d1	APN	9	78435587	missense	probably damaging	1.00
IGL00727:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00730:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00731:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00737:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00753:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00754:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00832:Mb21d1	APN	9	78434317	missense	probably damaging	1.00
IGL00848:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL00849:Mb21d1	APN	9	78435488	missense	probably damaging	0.99
IGL01627:Mb21d1	APN	9	78442714	missense	possibly damaging	0.70
IGL01642:Mb21d1	APN	9	78437398	missense	probably damaging	1.00
IGL01993:Mb21d1	APN	9	78442520	missense	probably benign	0.18
IGL02206:Mb21d1	APN	9	78443080	splice site	probably null
IGL02367:Mb21d1	APN	9	78434385	missense	probably benign	0.04
R0361:Mb21d1	UTSW	9	78433252	missense	probably damaging	1.00
R0426:Mb21d1	UTSW	9	78435738	splice site	probably benign
R1531:Mb21d1	UTSW	9	78442481	missense	probably damaging	1.00
R1554:Mb21d1	UTSW	9	78435556	missense	probably damaging	1.00
R1817:Mb21d1	UTSW	9	78434311	critical splice donor site	probably null
R1872:Mb21d1	UTSW	9	78433202	missense	probably benign	0.06
R1964:Mb21d1	UTSW	9	78437455	missense	probably damaging	0.99
R4162:Mb21d1	UTSW	9	78434404	missense	probably damaging	1.00
R6951:Mb21d1	UTSW	9	78442558	missense	probably damaging	1.00
R7199:Mb21d1	UTSW	9	78433033	missense	probably benign	0.19

Posted On

2016-08-02