Incidental Mutation 'R8883:Gnl1'
| ID |
677132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl1
|
| Ensembl Gene |
ENSMUSG00000024429 |
| Gene Name |
guanine nucleotide binding protein-like 1 |
| Synonyms |
Gnal1, Gna-rs1 |
| MMRRC Submission |
068689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R8883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36290847-36300354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36293490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 225
(N225S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055454]
[ENSMUST00000087200]
[ENSMUST00000165613]
[ENSMUST00000172429]
[ENSMUST00000172900]
[ENSMUST00000173585]
[ENSMUST00000173872]
[ENSMUST00000174849]
[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 damaging
Transcript: ENSMUST00000087200
AA Change: N225S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000084450
Gene: ENSMUSG00000024429
AA Change: N225S
| 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: 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: ENSMUST00000173724
|
| Meta Mutation Damage Score |
0.8361 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,283,168 (GRCm39) |
S3197P |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,486,992 (GRCm39) |
S315P |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,246,122 (GRCm39) |
L29Q |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,990,227 (GRCm39) |
P1842S |
probably damaging |
Het |
| Ccnb1ip1 |
G |
C |
14: 51,027,359 (GRCm39) |
P248A |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,766,540 (GRCm39) |
Q262R |
probably benign |
Het |
| Cox10 |
T |
C |
11: 63,884,775 (GRCm39) |
E210G |
probably damaging |
Het |
| Dcaf1 |
T |
G |
9: 106,724,839 (GRCm39) |
|
probably benign |
Het |
| Dgki |
A |
T |
6: 36,993,608 (GRCm39) |
D584E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,121,243 (GRCm39) |
E428G |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,753,922 (GRCm39) |
F807L |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,305,044 (GRCm39) |
V533A |
|
Het |
| Fermt3 |
G |
T |
19: 6,980,600 (GRCm39) |
D322E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,809,524 (GRCm39) |
V1948L |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,442,204 (GRCm39) |
D206G |
probably benign |
Het |
| Gjd3 |
A |
G |
11: 102,691,769 (GRCm39) |
V78A |
probably damaging |
Het |
| Hmces |
G |
A |
6: 87,910,396 (GRCm39) |
A269T |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,814,025 (GRCm39) |
N2434K |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,361,342 (GRCm39) |
S49T |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lap3 |
C |
A |
5: 45,669,272 (GRCm39) |
H474N |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,073,412 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,747 (GRCm39) |
V62A |
probably benign |
Het |
| Map3k14 |
T |
G |
11: 103,130,278 (GRCm39) |
Q213P |
probably benign |
Het |
| Mboat2 |
T |
G |
12: 25,009,033 (GRCm39) |
H478Q |
|
Het |
| Mepce |
C |
A |
5: 137,784,779 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,355,636 (GRCm39) |
R233H |
|
Het |
| Muc2 |
A |
G |
7: 141,287,469 (GRCm39) |
H216R |
probably damaging |
Het |
| Ntmt1 |
G |
A |
2: 30,712,466 (GRCm39) |
A170T |
probably benign |
Het |
| Or2ag15 |
A |
G |
7: 106,340,274 (GRCm39) |
I289T |
possibly damaging |
Het |
| Or2d3 |
A |
C |
7: 106,490,536 (GRCm39) |
M260R |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,583,838 (GRCm39) |
L166F |
probably damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,083 (GRCm39) |
H229R |
probably benign |
Het |
| Pebp4 |
G |
T |
14: 70,085,098 (GRCm39) |
C52F |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,085 (GRCm39) |
Y274N |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,424,468 (GRCm39) |
S358P |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,767,368 (GRCm39) |
I252T |
probably benign |
Het |
| Prss3b |
G |
T |
6: 41,009,305 (GRCm39) |
Y176* |
probably null |
Het |
| Racgap1 |
A |
G |
15: 99,526,540 (GRCm39) |
V341A |
probably benign |
Het |
| Rprd1a |
T |
C |
18: 24,640,260 (GRCm39) |
D172G |
possibly damaging |
Het |
| Spg11 |
T |
C |
2: 121,943,561 (GRCm39) |
D197G |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,474 (GRCm39) |
D339G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,021,145 (GRCm39) |
K574N |
possibly damaging |
Het |
| Srrd |
A |
T |
5: 112,487,790 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,080,257 (GRCm39) |
H547L |
unknown |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tap1 |
T |
C |
17: 34,406,867 (GRCm39) |
V5A |
unknown |
Het |
| Tent5c |
C |
A |
3: 100,379,707 (GRCm39) |
A350S |
probably benign |
Het |
| Usp45 |
G |
A |
4: 21,825,006 (GRCm39) |
G586D |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,855,479 (GRCm39) |
A2515S |
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,375,211 (GRCm39) |
|
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 |
|
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 |
|
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'- TACTTCTGCCAGAGCTGTGC -3'
(R):5'- GTGAAGATGTGCCTCTTTCTCC -3'
Sequencing Primer
(F):5'- AGAGCTGTGCCTGGTGAC -3'
(R):5'- ATCAGGTGCCCTTGCCAAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation