Incidental Mutation 'R5661:Gnl1'
ID |
444107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gnl1
|
Ensembl Gene |
ENSMUSG00000024429 |
Gene Name |
guanine nucleotide binding protein-like 1 |
Synonyms |
Gnal1, Gna-rs1 |
MMRRC Submission |
043304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R5661 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36290847-36300354 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36293447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 211
(Y211H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055454]
[ENSMUST00000087200]
[ENSMUST00000165613]
[ENSMUST00000172429]
[ENSMUST00000172900]
[ENSMUST00000173585]
[ENSMUST00000174849]
[ENSMUST00000173872]
[ENSMUST00000173724]
|
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: Y211H
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000084450 Gene: ENSMUSG00000024429 AA Change: Y211H
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174275
|
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: 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: ENSMUST00000173724
|
Meta Mutation Damage Score |
0.1483 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (57/59) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,128,753 (GRCm39) |
K427E |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
Ccr9 |
A |
C |
9: 123,609,164 (GRCm39) |
Y282S |
probably benign |
Het |
Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
Mocos |
T |
A |
18: 24,799,052 (GRCm39) |
|
probably null |
Het |
Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,110,963 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
Trappc11 |
T |
A |
8: 47,965,642 (GRCm39) |
D528V |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,370,384 (GRCm39) |
D761G |
probably benign |
Het |
Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGACCTGCAGGAAGCTC -3'
(R):5'- GAAGATGTGCCTCTTTCTCCTG -3'
Sequencing Primer
(F):5'- GCCCAGGTTGTTATTAATACCTG -3'
(R):5'- ATCAGGTGCCCTTGCCAAC -3'
|
Posted On |
2016-11-09 |