Incidental Mutation 'R5967:Gna11'
| ID |
470672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gna11
|
| Ensembl Gene |
ENSMUSG00000034781 |
| Gene Name |
guanine nucleotide binding protein, alpha 11 |
| Synonyms |
Dsk7 |
| MMRRC Submission |
043248-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81364558-81380996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81366643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 356
(Y356H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043604]
|
| AlphaFold |
P21278 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043604
AA Change: Y356H
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: Y356H
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
19 |
358 |
3.09e-208 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218454
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
| Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
| Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
| Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
| Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
| Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
| Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
| Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
| Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
| Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
probably benign |
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 |
|
R6445:Gna11
|
UTSW |
10 |
81,369,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Gna11
|
UTSW |
10 |
81,380,688 (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'- GCACACTGCTGTTCATGTATC -3'
(R):5'- ATCACTGTGCTCATCTGCAG -3'
Sequencing Primer
(F):5'- TCAAGCCACATTGAGTCAAGG -3'
(R):5'- TCATCTGCAGGGCCACAGAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation