Incidental Mutation 'R8840:Gnl1'
| ID |
674392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl1
|
| Ensembl Gene |
ENSMUSG00000024429 |
| Gene Name |
guanine nucleotide binding protein-like 1 |
| Synonyms |
Gnal1, Gna-rs1 |
| MMRRC Submission |
068668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R8840 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36290847-36300354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36293486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 224
(L224V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055454]
[ENSMUST00000087200]
[ENSMUST00000165613]
[ENSMUST00000172429]
[ENSMUST00000172900]
[ENSMUST00000173585]
[ENSMUST00000173724]
[ENSMUST00000173872]
[ENSMUST00000174849]
|
| 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: L224V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084450
Gene: ENSMUSG00000024429
AA Change: L224V
| 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 |
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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
G |
A |
5: 53,016,473 (GRCm39) |
D484N |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,152,769 (GRCm39) |
L109F |
probably damaging |
Het |
| Arhgap9 |
A |
G |
10: 127,161,009 (GRCm39) |
T179A |
possibly damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,733,845 (GRCm39) |
I359F |
|
Het |
| Btnl1 |
A |
G |
17: 34,604,577 (GRCm39) |
T453A |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,649,927 (GRCm39) |
I644V |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,567,483 (GRCm39) |
|
probably null |
Het |
| Ccdc8 |
T |
A |
7: 16,728,642 (GRCm39) |
F44I |
probably damaging |
Het |
| Ccz1 |
T |
C |
5: 143,940,982 (GRCm39) |
I191V |
probably damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,286 (GRCm39) |
K31E |
possibly damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,237 (GRCm39) |
D321G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,309,139 (GRCm39) |
N1871D |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,634,718 (GRCm39) |
E1211G |
probably damaging |
Het |
| Eppk1 |
T |
A |
15: 75,994,094 (GRCm39) |
D929V |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,602,819 (GRCm39) |
V246A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,606 (GRCm39) |
I5780V |
probably benign |
Het |
| Gart |
A |
T |
16: 91,433,010 (GRCm39) |
M313K |
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,855,604 (GRCm39) |
V368A |
probably benign |
Het |
| Ibsp |
C |
T |
5: 104,458,006 (GRCm39) |
A181V |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,287,716 (GRCm39) |
E421G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,721,016 (GRCm39) |
Y3831N |
unknown |
Het |
| Meltf |
T |
C |
16: 31,716,020 (GRCm39) |
L733P |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,399,379 (GRCm39) |
F898L |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,329 (GRCm39) |
Y133N |
probably damaging |
Het |
| Or8g29-ps1 |
G |
A |
9: 39,201,018 (GRCm39) |
T56I |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,349,842 (GRCm39) |
V229A |
unknown |
Het |
| Pramel25 |
C |
A |
4: 143,521,638 (GRCm39) |
T418K |
probably damaging |
Het |
| Primpol |
A |
T |
8: 47,046,731 (GRCm39) |
F188L |
probably damaging |
Het |
| Rbm15 |
A |
G |
3: 107,240,305 (GRCm39) |
V31A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,782,570 (GRCm39) |
D322V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,711 (GRCm39) |
N114S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,177 (GRCm39) |
D412G |
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,893,360 (GRCm39) |
S1314P |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,867,313 (GRCm39) |
D770G |
probably damaging |
Het |
| Skint7 |
T |
C |
4: 111,845,183 (GRCm39) |
F332L |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,365 (GRCm39) |
I34F |
possibly damaging |
Het |
| Suclg2 |
T |
A |
6: 95,546,615 (GRCm39) |
E287V |
probably damaging |
Het |
| Trhr2 |
T |
C |
8: 123,085,621 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,606,371 (GRCm39) |
D18146A |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,057,253 (GRCm39) |
T450I |
probably damaging |
Het |
| Xab2 |
A |
G |
8: 3,663,254 (GRCm39) |
F470L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,691 (GRCm39) |
H912R |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,635 (GRCm39) |
S326T |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
probably damaging |
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 |
|
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'- TACTTCTGCCAGAGCTGTGC -3'
(R):5'- GAAGATGTGCCTCTTTCTCCTG -3'
Sequencing Primer
(F):5'- AGAGCTGTGCCTGGTGAC -3'
(R):5'- ATCAGGTGCCCTTGCCAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation