Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00848:Cgas'

278006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cgas

Ensembl Gene

ENSMUSG00000032344

Gene Name

cyclic GMP-AMP synthase

Synonyms

Mb21d1, E330016A19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

78337808-78350519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78342770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 344 (P344L)

Ref Sequence

ENSEMBL: ENSMUSP00000034898 (fasta)

Gene Model

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

AlphaFold

Q8C6L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034898
AA Change: P344L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: P344L

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

possibly damaging
Transcript: ENSMUST00000070742
AA Change: P344L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: P344L

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

probably benign
Transcript: ENSMUST00000127190

SMART Domains

Protein: ENSMUSP00000114277
Gene: ENSMUSG00000032344

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144982

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,370,237 (GRCm39)	F508L	probably damaging	Het
Adgra3	C	T	5: 50,159,291 (GRCm39)	G320R	probably damaging	Het
Arhgef40	G	A	14: 52,224,884 (GRCm39)	V10M	probably damaging	Het
Birc6	C	T	17: 75,003,388 (GRCm39)	Q4739*	probably null	Het
Cdcp3	A	G	7: 130,848,453 (GRCm39)	E869G	probably damaging	Het
Cdh20	C	T	1: 104,861,981 (GRCm39)	H54Y	probably benign	Het
Cep112	A	G	11: 108,362,886 (GRCm39)	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,758,970 (GRCm39)	T27S	probably benign	Het
Copa	T	A	1: 171,938,255 (GRCm39)	C523S	possibly damaging	Het
Copz1	T	A	15: 103,207,176 (GRCm39)		probably benign	Het
Crybg1	A	C	10: 43,843,814 (GRCm39)		probably null	Het
Cyp3a11	A	T	5: 145,799,275 (GRCm39)	I304N	probably damaging	Het
Eif2d	C	T	1: 131,092,173 (GRCm39)	Q315*	probably null	Het
Fgfr4	A	G	13: 55,306,983 (GRCm39)	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,505,658 (GRCm39)	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,497,999 (GRCm39)		probably null	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Hrnr	A	T	3: 93,230,204 (GRCm39)	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184 (GRCm39)	S519R	probably damaging	Het
Kcnv1	A	G	15: 44,976,624 (GRCm39)	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,511,833 (GRCm39)	A266V	probably benign	Het
Lmtk2	A	G	5: 144,113,216 (GRCm39)	E1312G	probably benign	Het
Mos	T	C	4: 3,871,459 (GRCm39)	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717 (GRCm39)	H132Y	probably benign	Het
Myo18b	G	A	5: 113,019,351 (GRCm39)	T642I	probably damaging	Het
Myo5c	A	G	9: 75,196,463 (GRCm39)	E1303G	probably benign	Het
Napepld	A	T	5: 21,888,191 (GRCm39)	M86K	probably benign	Het
Nvl	T	A	1: 180,932,690 (GRCm39)	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,166,099 (GRCm39)	E341D	probably benign	Het
Pgghg	G	A	7: 140,522,317 (GRCm39)	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,303,985 (GRCm39)	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,267,178 (GRCm39)	T697M	probably damaging	Het
Piwil4	T	G	9: 14,638,707 (GRCm39)	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,180,718 (GRCm39)		probably benign	Het
Polr3b	A	G	10: 84,516,241 (GRCm39)	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,875 (GRCm39)	T317A	probably benign	Het
Prune2	A	T	19: 17,096,482 (GRCm39)	K662I	probably damaging	Het
Ptger4	T	C	15: 5,264,589 (GRCm39)	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,318,165 (GRCm39)	L16P	possibly damaging	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,578,596 (GRCm39)	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,685,266 (GRCm39)	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,193,059 (GRCm39)	V565M	probably benign	Het
Spns1	T	C	7: 125,970,414 (GRCm39)		probably null	Het
Stk3	T	A	15: 35,114,768 (GRCm39)	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,098,021 (GRCm39)	E100G	probably damaging	Het
Tjp1	T	C	7: 64,952,942 (GRCm39)	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,335,096 (GRCm39)	S69P	probably benign	Het
Usp32	T	C	11: 84,942,007 (GRCm39)		probably benign	Het
Vps45	G	T	3: 95,964,285 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,343,208 (GRCm39)	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,630,299 (GRCm39)	S21T	possibly damaging	Het

Other mutations in Cgas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Cgas	APN	9	78,342,869 (GRCm39)	missense	probably damaging	1.00
IGL00727:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL00730:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL00731:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL00737:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL00753:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL00754:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL00832:Cgas	APN	9	78,341,599 (GRCm39)	missense	probably damaging	1.00
IGL00849:Cgas	APN	9	78,342,770 (GRCm39)	missense	probably damaging	0.99
IGL01627:Cgas	APN	9	78,349,996 (GRCm39)	missense	possibly damaging	0.70
IGL01642:Cgas	APN	9	78,344,680 (GRCm39)	missense	probably damaging	1.00
IGL01993:Cgas	APN	9	78,349,802 (GRCm39)	missense	probably benign	0.18
IGL02206:Cgas	APN	9	78,350,362 (GRCm39)	splice site	probably null
IGL02367:Cgas	APN	9	78,341,667 (GRCm39)	missense	probably benign	0.04
IGL03053:Cgas	APN	9	78,344,719 (GRCm39)	missense	probably benign	0.14
R0361:Cgas	UTSW	9	78,340,534 (GRCm39)	missense	probably damaging	1.00
R0426:Cgas	UTSW	9	78,343,020 (GRCm39)	splice site	probably benign
R1531:Cgas	UTSW	9	78,349,763 (GRCm39)	missense	probably damaging	1.00
R1554:Cgas	UTSW	9	78,342,838 (GRCm39)	missense	probably damaging	1.00
R1817:Cgas	UTSW	9	78,341,593 (GRCm39)	critical splice donor site	probably null
R1872:Cgas	UTSW	9	78,340,484 (GRCm39)	missense	probably benign	0.06
R1964:Cgas	UTSW	9	78,344,737 (GRCm39)	missense	probably damaging	0.99
R4162:Cgas	UTSW	9	78,341,686 (GRCm39)	missense	probably damaging	1.00
R6951:Cgas	UTSW	9	78,349,840 (GRCm39)	missense	probably damaging	1.00
R7199:Cgas	UTSW	9	78,340,315 (GRCm39)	missense	probably benign	0.19
R8798:Cgas	UTSW	9	78,350,348 (GRCm39)	missense	probably benign
R9025:Cgas	UTSW	9	78,349,787 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16