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: 0.146)
|
| 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 |
Incidental Mutation