Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Gnaz'

542465

Institutional Source

Beutler Lab

Gene Symbol

Gnaz

Ensembl Gene

ENSMUSG00000040009

Gene Name

guanine nucleotide binding protein, alpha z subunit

Synonyms

MMRRC Submission

045382-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74803009-74852739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74827268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 7 (S7P)

Ref Sequence

ENSEMBL: ENSMUSP00000124639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000037813] [ENSMUST00000159991] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]

AlphaFold

O70443

Predicted Effect

probably benign
Transcript: ENSMUST00000009214

SMART Domains

Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	9.9e-8	PFAM
ARM	138	178	3.18e1	SMART
ARM	218	258	1.88e0	SMART
ARM	259	300	3.32e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037813
AA Change: S7P

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036087
Gene: ENSMUSG00000040009
AA Change: S7P

Domain	Start	End	E-Value	Type
G_alpha	13	354	1.05e-210	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159991
AA Change: S7P

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124639
Gene: ENSMUSG00000040009
AA Change: S7P

Domain	Start	End	E-Value	Type
G_alpha	13	354	1.05e-210	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160072

SMART Domains

Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	1.6e-8	PFAM
Blast:ARM	138	161	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160450

SMART Domains

Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	4.1e-8	PFAM
Blast:ARM	138	178	3e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166088

SMART Domains

Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Blast:ARM	48	88	1e-7	BLAST
Blast:ARM	89	129	3e-16	BLAST
ARM	171	211	3.18e1	SMART
ARM	251	291	1.88e0	SMART
ARM	292	333	3.32e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179546

SMART Domains

Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	9.9e-8	PFAM
ARM	138	178	3.18e1	SMART
ARM	218	258	1.88e0	SMART
ARM	259	300	3.32e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypertolerance to morphine. Mice homozygous for a reporter allele exhibit impaired platelet aggregation, increased resistance to fatal thromboembolism, reduced morphine-elicited antinociception, and altered behavioral responses to addictive substances. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fam83c	T	A	2: 155,672,157 (GRCm39)	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Il9r	G	A	11: 32,143,177 (GRCm39)	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or13e8	A	G	4: 43,697,170 (GRCm39)	M1T	probably null	Het
Or2ag17	A	T	7: 106,389,434 (GRCm39)	M258K	probably damaging	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	probably damaging	Het
Zfp943	T	C	17: 22,209,922 (GRCm39)	S65P	possibly damaging	Het

Other mutations in Gnaz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Gnaz	APN	10	74,827,776 (GRCm39)	missense	probably damaging	1.00
IGL01942:Gnaz	APN	10	74,850,706 (GRCm39)	missense	probably damaging	1.00
IGL02695:Gnaz	APN	10	74,827,974 (GRCm39)	critical splice donor site	probably null
R0039:Gnaz	UTSW	10	74,850,866 (GRCm39)	missense	probably damaging	1.00
R1768:Gnaz	UTSW	10	74,827,702 (GRCm39)	missense	possibly damaging	0.77
R4924:Gnaz	UTSW	10	74,827,545 (GRCm39)	missense	probably benign	0.00
R5209:Gnaz	UTSW	10	74,827,823 (GRCm39)	missense	probably benign	0.00
R5747:Gnaz	UTSW	10	74,827,235 (GRCm39)	intron	probably benign
R5798:Gnaz	UTSW	10	74,850,703 (GRCm39)	missense	probably damaging	1.00
R9278:Gnaz	UTSW	10	74,827,437 (GRCm39)	missense	probably benign	0.00
Z1177:Gnaz	UTSW	10	74,850,792 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTGCTCTGTGACACAGCCTC -3'
(R):5'- TGATGAGGGGCTTGTACTCC -3'

Sequencing Primer
(F):5'- TCGCCCCAAAGCCAGTG -3'
(R):5'- GGCTTGTACTCCTTGCAGGC -3'

Posted On

2018-11-28