Incidental Mutation 'IGL02956:Gnl1'
| ID |
365107 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gnl1
|
| Ensembl Gene |
ENSMUSG00000024429 |
| Gene Name |
guanine nucleotide binding protein-like 1 |
| Synonyms |
Gnal1, Gna-rs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL02956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36290847-36300354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36298504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 416
(I416T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087200]
|
| AlphaFold |
P36916 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087200
AA Change: I416T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084450
Gene: ENSMUSG00000024429
AA Change: I416T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
SCOP:d1egaa1
|
179 |
232 |
6e-3 |
SMART |
|
Pfam:MMR_HSR1
|
362 |
465 |
1.4e-13 |
PFAM |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172480
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,873,049 (GRCm39) |
A339V |
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,553,436 (GRCm39) |
V349A |
probably benign |
Het |
| Akna |
G |
T |
4: 63,304,516 (GRCm39) |
T546K |
probably benign |
Het |
| Albfm1 |
A |
G |
5: 90,727,497 (GRCm39) |
I372V |
possibly damaging |
Het |
| Ankrd29 |
T |
C |
18: 12,393,993 (GRCm39) |
K274E |
probably damaging |
Het |
| Apc2 |
A |
T |
10: 80,142,209 (GRCm39) |
N376I |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,418,047 (GRCm38) |
|
probably benign |
Het |
| Cbl |
T |
C |
9: 44,080,331 (GRCm39) |
T243A |
probably damaging |
Het |
| Cep15 |
A |
G |
14: 12,287,326 (GRCm38) |
N29S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,901 (GRCm39) |
E56G |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,464,413 (GRCm39) |
P1561Q |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,602,472 (GRCm39) |
S657P |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,690,149 (GRCm39) |
F732L |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,082 (GRCm39) |
D199G |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,650,841 (GRCm39) |
|
probably benign |
Het |
| Fbxl15 |
G |
T |
19: 46,317,690 (GRCm39) |
C124F |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,979,712 (GRCm39) |
S474G |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,368,350 (GRCm39) |
E252G |
probably damaging |
Het |
| Gm6625 |
A |
T |
8: 89,873,667 (GRCm39) |
|
noncoding transcript |
Het |
| Gp1bb |
C |
A |
16: 18,439,675 (GRCm39) |
A140S |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,148,785 (GRCm39) |
V271A |
possibly damaging |
Het |
| Heatr1 |
T |
A |
13: 12,430,940 (GRCm39) |
S1012T |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,523 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,429 (GRCm39) |
E737G |
possibly damaging |
Het |
| Lmod2 |
A |
C |
6: 24,603,631 (GRCm39) |
N202T |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,380,428 (GRCm39) |
V3908I |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,633 (GRCm39) |
V15A |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,959,263 (GRCm39) |
D77E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,823 (GRCm39) |
E1787V |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,467,874 (GRCm39) |
M804K |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,675,822 (GRCm39) |
S32G |
probably benign |
Het |
| Or13c7d |
T |
A |
4: 43,770,399 (GRCm39) |
N204I |
probably benign |
Het |
| Or52h1 |
T |
C |
7: 103,829,334 (GRCm39) |
I94V |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,348 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or8b8 |
A |
G |
9: 37,809,404 (GRCm39) |
K235E |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,390,911 (GRCm39) |
D97G |
possibly damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,054,100 (GRCm39) |
|
probably benign |
Het |
| Rex1bd |
C |
A |
8: 70,958,552 (GRCm39) |
V72F |
possibly damaging |
Het |
| Rgp1 |
A |
G |
4: 43,581,505 (GRCm39) |
T261A |
possibly damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,334 (GRCm39) |
F84L |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,043,973 (GRCm39) |
D494N |
probably benign |
Het |
| Spn |
G |
A |
7: 126,736,432 (GRCm39) |
T25M |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,920 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,324,967 (GRCm39) |
T620A |
unknown |
Het |
| Zfp276 |
T |
C |
8: 123,981,483 (GRCm39) |
L10P |
probably damaging |
Het |
| Zfp93 |
T |
A |
7: 23,974,400 (GRCm39) |
N128K |
probably benign |
Het |
|
| Other mutations in Gnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03325:Gnl1
|
APN |
17 |
36,299,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lepidoptera
|
UTSW |
17 |
36,298,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mariposa
|
UTSW |
17 |
36,298,425 (GRCm39) |
nonsense |
probably null |
|
|
Morning_cloak
|
UTSW |
17 |
36,294,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
papillon
|
UTSW |
17 |
36,298,487 (GRCm39) |
nonsense |
probably null |
|
|
R0648:Gnl1
|
UTSW |
17 |
36,293,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Gnl1
|
UTSW |
17 |
36,298,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Gnl1
|
UTSW |
17 |
36,298,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Gnl1
|
UTSW |
17 |
36,299,584 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2027:Gnl1
|
UTSW |
17 |
36,293,850 (GRCm39) |
missense |
probably benign |
|
|
R2240:Gnl1
|
UTSW |
17 |
36,293,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3944:Gnl1
|
UTSW |
17 |
36,299,413 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4569:Gnl1
|
UTSW |
17 |
36,299,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4849:Gnl1
|
UTSW |
17 |
36,298,603 (GRCm39) |
splice site |
probably null |
|
|
R4969:Gnl1
|
UTSW |
17 |
36,291,581 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5661:Gnl1
|
UTSW |
17 |
36,293,447 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5705:Gnl1
|
UTSW |
17 |
36,292,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6372:Gnl1
|
UTSW |
17 |
36,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Gnl1
|
UTSW |
17 |
36,293,845 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6919:Gnl1
|
UTSW |
17 |
36,298,425 (GRCm39) |
nonsense |
probably null |
|
|
R7022:Gnl1
|
UTSW |
17 |
36,299,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Gnl1
|
UTSW |
17 |
36,294,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7537:Gnl1
|
UTSW |
17 |
36,299,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Gnl1
|
UTSW |
17 |
36,299,112 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8232:Gnl1
|
UTSW |
17 |
36,298,487 (GRCm39) |
nonsense |
probably null |
|
|
R8320:Gnl1
|
UTSW |
17 |
36,293,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Gnl1
|
UTSW |
17 |
36,293,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8883:Gnl1
|
UTSW |
17 |
36,293,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Gnl1
|
UTSW |
17 |
36,299,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:Gnl1
|
UTSW |
17 |
36,294,479 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9508:Gnl1
|
UTSW |
17 |
36,299,625 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0027:Gnl1
|
UTSW |
17 |
36,298,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-12-18 |
Incidental Mutation