Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Adcy1'

409897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

I-AC, D11Bwg1392e, AC1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

7063489-7178506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7109051 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 319 (T319I)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020706]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020706
AA Change: T319I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: T319I

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
low complexity region	58	90	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
CYCc	257	455	2.05e-80	SMART
transmembrane domain	608	630	N/A	INTRINSIC
transmembrane domain	634	656	N/A	INTRINSIC
transmembrane domain	676	698	N/A	INTRINSIC
CYCc	827	1038	1.71e-50	SMART
low complexity region	1090	1104	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	probably benign	Het

Other mutations in Adcy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Adcy1	APN	11	7137385	missense	probably damaging	0.99
IGL01325:Adcy1	APN	11	7064102	missense	possibly damaging	0.58
IGL01531:Adcy1	APN	11	7169414	missense	possibly damaging	0.95
IGL01585:Adcy1	APN	11	7167143	missense	probably damaging	1.00
IGL01932:Adcy1	APN	11	7100565	splice site	probably benign
IGL01945:Adcy1	APN	11	7161891	missense	probably damaging	1.00
IGL02532:Adcy1	APN	11	7144737	missense	probably benign	0.26
IGL02649:Adcy1	APN	11	7167156	missense	probably damaging	1.00
IGL02658:Adcy1	APN	11	7138279	splice site	probably benign
IGL02813:Adcy1	APN	11	7146591	missense	possibly damaging	0.83
IGL02931:Adcy1	APN	11	7079012	missense	probably benign	0.19
IGL03116:Adcy1	APN	11	7150071	missense	probably benign
IGL03214:Adcy1	APN	11	7167054	splice site	probably benign
PIT4431001:Adcy1	UTSW	11	7064089	missense	possibly damaging	0.93
PIT4520001:Adcy1	UTSW	11	7167133	missense	probably damaging	1.00
R0032:Adcy1	UTSW	11	7144729	missense	possibly damaging	0.93
R0032:Adcy1	UTSW	11	7144729	missense	possibly damaging	0.93
R0080:Adcy1	UTSW	11	7149497	splice site	probably benign
R0082:Adcy1	UTSW	11	7149497	splice site	probably benign
R0238:Adcy1	UTSW	11	7139162	missense	possibly damaging	0.80
R0238:Adcy1	UTSW	11	7139162	missense	possibly damaging	0.80
R0312:Adcy1	UTSW	11	7149538	missense	probably benign	0.08
R0569:Adcy1	UTSW	11	7146514	missense	probably benign	0.34
R1055:Adcy1	UTSW	11	7109075	missense	probably damaging	1.00
R1144:Adcy1	UTSW	11	7137400	missense	probably damaging	1.00
R1179:Adcy1	UTSW	11	7167054	splice site	probably null
R1245:Adcy1	UTSW	11	7169410	splice site	probably benign
R1467:Adcy1	UTSW	11	7138396	missense	probably damaging	0.97
R1467:Adcy1	UTSW	11	7138396	missense	probably damaging	0.97
R1823:Adcy1	UTSW	11	7161312	missense	probably benign	0.23
R1953:Adcy1	UTSW	11	7078991	missense	probably benign	0.01
R1957:Adcy1	UTSW	11	7161945	missense	probably benign	0.00
R2029:Adcy1	UTSW	11	7139142	missense	probably benign	0.10
R2051:Adcy1	UTSW	11	7161885	nonsense	probably null
R2483:Adcy1	UTSW	11	7130348	missense	probably benign	0.01
R3108:Adcy1	UTSW	11	7169453	missense	probably damaging	1.00
R3623:Adcy1	UTSW	11	7130348	missense	probably benign	0.01
R3624:Adcy1	UTSW	11	7130348	missense	probably benign	0.01
R4082:Adcy1	UTSW	11	7064117	missense	probably damaging	1.00
R4159:Adcy1	UTSW	11	7063889	missense	probably damaging	1.00
R4470:Adcy1	UTSW	11	7144804	missense	probably benign	0.17
R4472:Adcy1	UTSW	11	7130369	missense	probably damaging	1.00
R4951:Adcy1	UTSW	11	7138336	missense	possibly damaging	0.83
R4997:Adcy1	UTSW	11	7161298	missense	probably benign	0.25
R5237:Adcy1	UTSW	11	7149553	missense	probably benign	0.00
R5288:Adcy1	UTSW	11	7161351	missense	probably benign	0.01
R5304:Adcy1	UTSW	11	7064198	missense	probably benign	0.00
R5341:Adcy1	UTSW	11	7130375	missense	probably damaging	0.99
R5379:Adcy1	UTSW	11	7146532	missense	probably damaging	1.00
R5592:Adcy1	UTSW	11	7139088	nonsense	probably null
R5677:Adcy1	UTSW	11	7161914	missense	probably damaging	1.00
R5680:Adcy1	UTSW	11	7109020	missense	probably damaging	1.00
R5753:Adcy1	UTSW	11	7130300	missense	probably damaging	1.00
R5888:Adcy1	UTSW	11	7139095	missense	possibly damaging	0.66
R5943:Adcy1	UTSW	11	7161337	missense	probably damaging	1.00
R6435:Adcy1	UTSW	11	7161367	missense	possibly damaging	0.60
R6931:Adcy1	UTSW	11	7150884	missense	possibly damaging	0.81
R6998:Adcy1	UTSW	11	7079026	missense	probably damaging	1.00
R7368:Adcy1	UTSW	11	7144765	missense	probably damaging	1.00
R7378:Adcy1	UTSW	11	7169543	missense	possibly damaging	0.56
R7393:Adcy1	UTSW	11	7137381	missense	probably damaging	1.00
R7500:Adcy1	UTSW	11	7144762	missense	probably damaging	1.00
R7529:Adcy1	UTSW	11	7139157	missense	probably damaging	0.98
X0027:Adcy1	UTSW	11	7161930	missense	possibly damaging	0.47
Z1088:Adcy1	UTSW	11	7150019	missense	probably benign	0.19
Z1176:Adcy1	UTSW	11	7109098	missense	probably damaging	1.00
Z1176:Adcy1	UTSW	11	7149536	missense	probably damaging	0.99
Z1176:Adcy1	UTSW	11	7150857	missense	probably damaging	0.96
Z1176:Adcy1	UTSW	11	7150858	missense	possibly damaging	0.62
Z1177:Adcy1	UTSW	11	7100642	nonsense	probably null
Z1177:Adcy1	UTSW	11	7144802	missense	probably damaging	1.00

Posted On

2016-08-02