Incidental Mutation 'R7693:Gnl1'
ID |
593517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gnl1
|
Ensembl Gene |
ENSMUSG00000024429 |
Gene Name |
guanine nucleotide binding protein-like 1 |
Synonyms |
Gnal1, Gna-rs1 |
MMRRC Submission |
045708-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R7693 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36290847-36300354 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36299112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 517
(C517R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087200]
|
AlphaFold |
P36916 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087200
AA Change: C517R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084450 Gene: ENSMUSG00000024429 AA Change: C517R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
Het |
|
Other mutations in Gnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02956:Gnl1
|
APN |
17 |
36,298,504 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGAACTCTTCCCTGGACTGTG -3'
(R):5'- AGTTCCTGCATGCCCTCAAG -3'
Sequencing Primer
(F):5'- CTTCCCTGGACTGTGTGGAAC -3'
(R):5'- GCATGCCCTCAAGTCCCC -3'
|
Posted On |
2019-11-12 |