Incidental Mutation 'R3851:Rgs14'
| ID |
275935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs14
|
| Ensembl Gene |
ENSMUSG00000052087 |
| Gene Name |
regulator of G-protein signaling 14 |
| Synonyms |
Rap1/rap2 interacting protein |
| MMRRC Submission |
040899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55517545-55532500 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55527427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 221
(L221Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063771]
[ENSMUST00000149858]
|
| AlphaFold |
P97492 |
| PDB Structure |
Solution structure of the Ras-binding domain of mouse RGS14 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063771
AA Change: L221Q
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068731
Gene: ENSMUSG00000052087
AA Change: L221Q
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
67 |
184 |
3.42e-44 |
SMART |
|
low complexity region
|
209 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
299 |
N/A |
INTRINSIC |
|
RBD
|
303 |
374 |
2e-26 |
SMART |
|
RBD
|
376 |
446 |
4.53e-16 |
SMART |
|
low complexity region
|
474 |
491 |
N/A |
INTRINSIC |
|
GoLoco
|
500 |
522 |
1.74e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224185
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (36/36) |
| 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 regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in failure to complete the first zygotic cell division. Homozygous mutation of this gene with a second allele results in no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,039,372 (GRCm39) |
W544* |
probably null |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
| Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
| Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
| Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Nubpl |
T |
C |
12: 52,190,810 (GRCm39) |
M65T |
probably damaging |
Het |
| Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
| Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,850,808 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rgs14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01820:Rgs14
|
APN |
13 |
55,531,338 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02691:Rgs14
|
APN |
13 |
55,526,836 (GRCm39) |
splice site |
probably null |
|
|
R1655:Rgs14
|
UTSW |
13 |
55,531,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1716:Rgs14
|
UTSW |
13 |
55,526,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1839:Rgs14
|
UTSW |
13 |
55,530,651 (GRCm39) |
unclassified |
probably benign |
|
|
R2014:Rgs14
|
UTSW |
13 |
55,531,513 (GRCm39) |
nonsense |
probably null |
|
|
R4008:Rgs14
|
UTSW |
13 |
55,517,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4299:Rgs14
|
UTSW |
13 |
55,531,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Rgs14
|
UTSW |
13 |
55,527,875 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4801:Rgs14
|
UTSW |
13 |
55,528,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Rgs14
|
UTSW |
13 |
55,528,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Rgs14
|
UTSW |
13 |
55,527,508 (GRCm39) |
splice site |
probably null |
|
|
R7142:Rgs14
|
UTSW |
13 |
55,527,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7207:Rgs14
|
UTSW |
13 |
55,531,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7701:Rgs14
|
UTSW |
13 |
55,527,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Rgs14
|
UTSW |
13 |
55,531,569 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8405:Rgs14
|
UTSW |
13 |
55,530,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Rgs14
|
UTSW |
13 |
55,531,234 (GRCm39) |
unclassified |
probably benign |
|
|
R9120:Rgs14
|
UTSW |
13 |
55,528,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Rgs14
|
UTSW |
13 |
55,531,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9731:Rgs14
|
UTSW |
13 |
55,528,784 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACCAAGAGTGCCTGCTG -3'
(R):5'- CTTATTGCAGACTGGGTCAGATAG -3'
Sequencing Primer
(F):5'- GGAACCTGGCTCCTCACAC -3'
(R):5'- TAGGAAGAAAAGGGCGGTCC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation