Mutagenetix > Incidental Mutation

Incidental Mutation 'R6523:Gna11'

521511

Institutional Source

Beutler Lab

Gene Symbol

Gna11

Ensembl Gene

ENSMUSG00000034781

Gene Name

guanine nucleotide binding protein, alpha 11

Synonyms

Dsk7

MMRRC Submission

044649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6523 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

81364558-81380996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81380688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 25 (I25N)

Ref Sequence

ENSEMBL: ENSMUSP00000043190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043604]

AlphaFold

P21278

Predicted Effect

probably damaging
Transcript: ENSMUST00000043604
AA Change: I25N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: I25N

Domain	Start	End	E-Value	Type
G_alpha	19	358	3.09e-208	SMART

Meta Mutation Damage Score

0.9305

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice deficient for this gene do not exhibit any detectable abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,160,120 (GRCm39)		probably null	Het
Alg2	A	T	4: 47,472,071 (GRCm39)	S246T	possibly damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Arid4a	A	G	12: 71,114,115 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,762,553 (GRCm39)		probably null	Het
B430306N03Rik	A	G	17: 48,626,193 (GRCm39)	T129A	possibly damaging	Het
Blvrb	C	A	7: 27,165,142 (GRCm39)		probably null	Het
Ccdc175	T	C	12: 72,191,565 (GRCm39)	N337S	probably benign	Het
Ccdc28b	A	C	4: 129,514,780 (GRCm39)	F110V	probably damaging	Het
Cd200	A	G	16: 45,220,633 (GRCm39)	Y16H	probably benign	Het
Cfh	T	G	1: 140,029,445 (GRCm39)	E950A	possibly damaging	Het
Clec3a	A	T	8: 115,152,345 (GRCm39)	Y117F	probably damaging	Het
CN725425	A	G	15: 91,115,784 (GRCm39)	S9G	probably benign	Het
Coasy	T	A	11: 100,976,944 (GRCm39)	W535R	probably damaging	Het
Cox4i1	T	A	8: 121,399,480 (GRCm39)	S30R	probably benign	Het
Csnk1a1	G	A	18: 61,688,829 (GRCm39)	S3N	probably benign	Het
Dcst2	C	G	3: 89,280,808 (GRCm39)	L669V	probably benign	Het
Dnah14	A	G	1: 181,471,186 (GRCm39)	I1346V	probably benign	Het
Fbxw24	G	A	9: 109,434,048 (GRCm39)	R421*	probably null	Het
Fstl5	G	A	3: 76,443,641 (GRCm39)	V329I	probably benign	Het
Gli3	T	C	13: 15,888,235 (GRCm39)		probably null	Het
Greb1	C	T	12: 16,734,374 (GRCm39)	V1539I	possibly damaging	Het
Hipk3	T	A	2: 104,269,753 (GRCm39)	T479S	possibly damaging	Het
Hspa1b	A	G	17: 35,176,167 (GRCm39)	I606T	probably benign	Het
Idnk	T	A	13: 58,311,457 (GRCm39)	F141L	probably damaging	Het
Ifit3	A	G	19: 34,565,555 (GRCm39)	N367S	probably benign	Het
Kcnn1	A	T	8: 71,299,169 (GRCm39)	D448E	possibly damaging	Het
Krt14	T	C	11: 100,095,923 (GRCm39)	T212A	possibly damaging	Het
Ldlr	G	A	9: 21,648,549 (GRCm39)	C285Y	probably damaging	Het
Mark3	G	A	12: 111,593,669 (GRCm39)	V234I	probably damaging	Het
Meikin	T	A	11: 54,289,327 (GRCm39)	Y233*	probably null	Het
Mtcl2	G	A	2: 156,902,263 (GRCm39)	Q251*	probably null	Het
Muc20	T	C	16: 32,613,820 (GRCm39)	D519G	possibly damaging	Het
Nalcn	T	A	14: 123,555,255 (GRCm39)	H876L	probably benign	Het
Ncaph	A	T	2: 126,947,809 (GRCm39)	I698K	probably damaging	Het
Nipal1	A	T	5: 72,824,951 (GRCm39)	I215F	probably damaging	Het
Nrde2	A	T	12: 100,100,664 (GRCm39)	D607E	possibly damaging	Het
Nt5dc2	T	C	14: 30,857,662 (GRCm39)	F217S	probably damaging	Het
Ntsr2	T	A	12: 16,706,697 (GRCm39)	S156T	probably benign	Het
Or13c9	A	T	4: 52,935,500 (GRCm39)	I261N	probably damaging	Het
Or5b110-ps1	A	C	19: 13,259,728 (GRCm39)	D231E	probably benign	Het
Or5p4	A	C	7: 107,680,762 (GRCm39)	T254P	probably benign	Het
Pfas	A	T	11: 68,881,283 (GRCm39)	I1028K	probably benign	Het
Pnpla5	C	A	15: 83,999,912 (GRCm39)	R329L	possibly damaging	Het
Pramel30	T	C	4: 144,058,218 (GRCm39)	V275A	probably benign	Het
Rhot2	A	G	17: 26,058,394 (GRCm39)	V393A	possibly damaging	Het
Rigi	T	A	4: 40,205,947 (GRCm39)	T882S	probably benign	Het
Rnase9	T	A	14: 51,276,684 (GRCm39)	Y98F	possibly damaging	Het
Sacs	C	A	14: 61,440,410 (GRCm39)	L819I	probably damaging	Het
Sall3	C	T	18: 81,016,403 (GRCm39)	M508I	possibly damaging	Het
Scube3	G	A	17: 28,381,362 (GRCm39)	C301Y	probably damaging	Het
Sgo2b	G	T	8: 64,380,538 (GRCm39)	H765N	probably benign	Het
Sh3gl1	A	T	17: 56,324,617 (GRCm39)	Y344N	possibly damaging	Het
Slc15a2	A	G	16: 36,572,683 (GRCm39)	V635A	probably benign	Het
Slc1a4	T	A	11: 20,282,114 (GRCm39)	Y40F	probably damaging	Het
Slc4a10	A	T	2: 62,117,305 (GRCm39)	K755*	probably null	Het
Slco1a5	C	T	6: 142,212,121 (GRCm39)	G38R	probably damaging	Het
Snx25	T	A	8: 46,508,892 (GRCm39)	D564V	probably damaging	Het
Spon1	T	A	7: 113,486,018 (GRCm39)	D189E	probably benign	Het
Sptbn5	T	C	2: 119,896,095 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,841,170 (GRCm39)	I317V	probably benign	Het
Stil	AAGATTTCCAG	A	4: 114,889,911 (GRCm39)		probably null	Het
Strn3	A	T	12: 51,689,881 (GRCm39)		probably null	Het
Tcaf2	A	T	6: 42,619,953 (GRCm39)	F25I	probably benign	Het
Themis	C	T	10: 28,657,894 (GRCm39)	T154I	possibly damaging	Het
Ttn	T	C	2: 76,626,390 (GRCm39)	R13176G	probably damaging	Het
Utp4	G	A	8: 107,625,095 (GRCm39)	V125M	probably damaging	Het
Vmn1r119	T	A	7: 20,745,777 (GRCm39)	M202L	possibly damaging	Het
Zfp292	G	C	4: 34,816,301 (GRCm39)	F329L	probably benign	Het
Zfp541	C	T	7: 15,829,445 (GRCm39)	P1281L	probably damaging	Het
Zfp616	A	T	11: 73,973,968 (GRCm39)	Q79L	possibly damaging	Het

Other mutations in Gna11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Gna11	APN	10	81,366,718 (GRCm39)	missense	probably damaging	1.00
IGL02972:Gna11	APN	10	81,369,225 (GRCm39)	missense	probably benign
IGL03290:Gna11	APN	10	81,366,771 (GRCm39)	missense	probably damaging	1.00
Knapweed	UTSW	10	81,366,715 (GRCm39)	missense
R0057:Gna11	UTSW	10	81,366,774 (GRCm39)	missense	probably benign	0.19
R0057:Gna11	UTSW	10	81,366,774 (GRCm39)	missense	probably benign	0.19
R0417:Gna11	UTSW	10	81,366,738 (GRCm39)	missense	probably damaging	1.00
R1542:Gna11	UTSW	10	81,369,162 (GRCm39)	missense	probably benign
R1957:Gna11	UTSW	10	81,366,678 (GRCm39)	missense	probably damaging	1.00
R5180:Gna11	UTSW	10	81,380,707 (GRCm39)	missense	probably benign	0.01
R5534:Gna11	UTSW	10	81,366,967 (GRCm39)	missense	probably damaging	1.00
R5967:Gna11	UTSW	10	81,366,643 (GRCm39)	missense	probably benign	0.11
R6445:Gna11	UTSW	10	81,369,167 (GRCm39)	missense	probably damaging	1.00
R7450:Gna11	UTSW	10	81,368,356 (GRCm39)	missense
R7556:Gna11	UTSW	10	81,367,208 (GRCm39)	missense
R9076:Gna11	UTSW	10	81,366,715 (GRCm39)	missense
R9180:Gna11	UTSW	10	81,370,942 (GRCm39)	missense
R9660:Gna11	UTSW	10	81,370,918 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GAATGAATCTAAGGCCTGGATAAC -3'
(R):5'- GGCGATCCTAAAGTCCTGTC -3'

Sequencing Primer
(F):5'- ACTAGTTGCCCCGAGGACATC -3'
(R):5'- TAAAGTCCTGTCCCTGCGG -3'

Posted On

2018-06-06