Incidental Mutation 'R6445:Gna11'
| ID |
519165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gna11
|
| Ensembl Gene |
ENSMUSG00000034781 |
| Gene Name |
guanine nucleotide binding protein, alpha 11 |
| Synonyms |
Dsk7 |
| MMRRC Submission |
044388-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81364558-81380996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81369167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 132
(I132N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043604]
|
| AlphaFold |
P21278 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043604
AA Change: I132N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: I132N
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
C |
A |
14: 44,738,731 (GRCm39) |
D43E |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 165,012,612 (GRCm39) |
I158V |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,052,860 (GRCm39) |
I1676V |
probably benign |
Het |
| Crem |
T |
C |
18: 3,309,671 (GRCm39) |
Y18C |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,412 (GRCm39) |
I146V |
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,613,668 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,752,558 (GRCm39) |
Y1437C |
probably damaging |
Het |
| Gm3055 |
T |
A |
10: 81,945,506 (GRCm39) |
N375K |
possibly damaging |
Het |
| Gm36864 |
A |
T |
7: 43,886,842 (GRCm39) |
Q245L |
possibly damaging |
Het |
| Ikzf4 |
C |
A |
10: 128,472,424 (GRCm39) |
|
probably null |
Het |
| Il9r |
C |
T |
11: 32,141,000 (GRCm39) |
G346D |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,648,775 (GRCm39) |
R190Q |
probably benign |
Het |
| Mfsd8 |
T |
C |
3: 40,791,553 (GRCm39) |
I54V |
probably damaging |
Het |
| Nktr |
G |
T |
9: 121,577,480 (GRCm39) |
|
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,472 (GRCm39) |
F168Y |
probably damaging |
Het |
| Peli2 |
T |
C |
14: 48,493,905 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,224,670 (GRCm39) |
A202T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,231,353 (GRCm39) |
I832K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,124,212 (GRCm39) |
K2765E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,296,840 (GRCm39) |
N744K |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,669,841 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,211,318 (GRCm39) |
R281S |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,383,393 (GRCm39) |
V1423A |
probably benign |
Het |
| Syt10 |
G |
A |
15: 89,698,471 (GRCm39) |
T291I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,744,880 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,063,719 (GRCm39) |
T186A |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,812,092 (GRCm39) |
D874E |
probably 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 |
|
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'- AGTAGAGTGCTGCCCTGATTG -3'
(R):5'- TAGCCTTGTCGCTTTCTAGAG -3'
Sequencing Primer
(F):5'- CCAGCCTGTGGGTAGTGAGTC -3'
(R):5'- CGCTTTCTAGAGGCCTTGGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation