Incidental Mutation 'R6355:Gnat1'
| ID |
512342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnat1
|
| Ensembl Gene |
ENSMUSG00000034837 |
| Gene Name |
G protein subunit alpha transducin 1 |
| Synonyms |
transducin, Gnat-1, Tralpha, irdr, Ird2, Ird1 |
| MMRRC Submission |
044507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R6355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107551636-107556833 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107554623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 81
(V81F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010205]
[ENSMUST00000080560]
[ENSMUST00000192271]
[ENSMUST00000192727]
|
| AlphaFold |
P20612 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010205
AA Change: V81F
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000010205
Gene: ENSMUSG00000034837
AA Change: V81F
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
9 |
349 |
5.13e-223 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080560
|
| SMART Domains |
Protein: ENSMUSP00000079400
Gene: ENSMUSG00000034684
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Sema
|
57 |
498 |
5.46e-206 |
SMART |
|
PSI
|
516 |
568 |
1.87e-12 |
SMART |
|
IGc2
|
586 |
654 |
3.79e-4 |
SMART |
|
low complexity region
|
673 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192271
|
| SMART Domains |
Protein: ENSMUSP00000141571
Gene: ENSMUSG00000034837
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192727
|
| SMART Domains |
Protein: ENSMUSP00000141865
Gene: ENSMUSG00000034684
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Sema
|
57 |
529 |
3.31e-205 |
SMART |
|
PSI
|
547 |
599 |
1.87e-12 |
SMART |
|
IGc2
|
617 |
685 |
3.79e-4 |
SMART |
|
low complexity region
|
704 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194802
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display retinal degeneration with age and abnormal electrophysiology of the rods. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
| Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
| Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
| Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
| Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
| Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
| Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
| Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
| Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
| Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
| Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
probably benign |
Het |
|
| Other mutations in Gnat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Gnat1
|
APN |
9 |
107,556,633 (GRCm39) |
splice site |
probably null |
|
|
IGL01514:Gnat1
|
APN |
9 |
107,553,500 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0730:Gnat1
|
UTSW |
9 |
107,556,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Gnat1
|
UTSW |
9 |
107,554,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1268:Gnat1
|
UTSW |
9 |
107,553,076 (GRCm39) |
unclassified |
probably benign |
|
|
R1440:Gnat1
|
UTSW |
9 |
107,554,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Gnat1
|
UTSW |
9 |
107,553,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Gnat1
|
UTSW |
9 |
107,554,433 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4966:Gnat1
|
UTSW |
9 |
107,554,433 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7035:Gnat1
|
UTSW |
9 |
107,553,827 (GRCm39) |
unclassified |
probably benign |
|
|
R7218:Gnat1
|
UTSW |
9 |
107,553,184 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9439:Gnat1
|
UTSW |
9 |
107,553,511 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCTTGGGCATTGTGC -3'
(R):5'- ATGAAGTGAGTGTTCCCTGCC -3'
Sequencing Primer
(F):5'- TCCTCAATAGTATCTGCCATGTG -3'
(R):5'- ATCCTAAGGCCCCCTAGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation