Incidental Mutation 'R5705:Gnl1'
ID |
451949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gnl1
|
Ensembl Gene |
ENSMUSG00000024429 |
Gene Name |
guanine nucleotide binding protein-like 1 |
Synonyms |
Gnal1, Gna-rs1 |
MMRRC Submission |
043330-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R5705 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36290847-36300354 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36292492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 191
(V191I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055454]
[ENSMUST00000087200]
[ENSMUST00000165613]
[ENSMUST00000172429]
[ENSMUST00000172900]
[ENSMUST00000173724]
[ENSMUST00000173872]
[ENSMUST00000174849]
[ENSMUST00000173585]
|
AlphaFold |
P36916 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055454
|
SMART Domains |
Protein: ENSMUSP00000052166 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
low complexity region
|
73 |
95 |
N/A |
INTRINSIC |
low complexity region
|
110 |
120 |
N/A |
INTRINSIC |
ZnF_C3H1
|
158 |
184 |
3.04e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087200
AA Change: V191I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000084450 Gene: ENSMUSG00000024429 AA Change: V191I
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 |
probably benign
Transcript: ENSMUST00000165613
|
SMART Domains |
Protein: ENSMUSP00000125802 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172429
|
SMART Domains |
Protein: ENSMUSP00000129651 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
ZnF_C3H1
|
111 |
137 |
3.04e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172900
|
SMART Domains |
Protein: ENSMUSP00000134115 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174275
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173872
|
SMART Domains |
Protein: ENSMUSP00000134021 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174849
|
SMART Domains |
Protein: ENSMUSP00000134505 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173585
|
SMART Domains |
Protein: ENSMUSP00000134373 Gene: ENSMUSG00000038500
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
ZnF_C3H1
|
111 |
137 |
3.04e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGCTACTTTGAGCACAATC -3'
(R):5'- ATGGCAAGCACCTGCAAATC -3'
Sequencing Primer
(F):5'- CAGCTACTTTGAGCACAATCTGGAG -3'
(R):5'- CTTTTGTAGACCAGTATGGACAGCC -3'
|
Posted On |
2017-01-03 |