Incidental Mutation 'R6184:Gnl2'
| ID |
488137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl2
|
| Ensembl Gene |
ENSMUSG00000028869 |
| Gene Name |
guanine nucleotide binding protein nucleolar 2 |
| Synonyms |
Ngp-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124920866-124949175 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 124948022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030684]
[ENSMUST00000030684]
[ENSMUST00000036383]
|
| AlphaFold |
Q99LH1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030684
|
| SMART Domains |
Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NGP1NT
|
43 |
174 |
1.2e-51 |
PFAM |
|
SCOP:d1egaa1
|
178 |
261 |
8e-3 |
SMART |
|
Pfam:FeoB_N
|
311 |
398 |
3.1e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
312 |
432 |
3.4e-13 |
PFAM |
|
low complexity region
|
480 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
710 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000030684
|
| SMART Domains |
Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NGP1NT
|
43 |
174 |
1.2e-51 |
PFAM |
|
SCOP:d1egaa1
|
178 |
261 |
8e-3 |
SMART |
|
Pfam:FeoB_N
|
311 |
398 |
3.1e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
312 |
432 |
3.4e-13 |
PFAM |
|
low complexity region
|
480 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
710 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036383
|
| SMART Domains |
Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
Pfam:Ax_dynein_light
|
66 |
252 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147550
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,057,179 (GRCm39) |
F106S |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,957 (GRCm39) |
F4696I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,756,047 (GRCm39) |
I1073V |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,884,033 (GRCm39) |
D415E |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,390,792 (GRCm39) |
|
probably null |
Het |
| Coro2a |
T |
C |
4: 46,540,504 (GRCm39) |
T472A |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,069,574 (GRCm39) |
F878I |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,787,127 (GRCm39) |
D80E |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,506,481 (GRCm39) |
V2E |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,867,896 (GRCm39) |
H1508R |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,176,656 (GRCm39) |
N344S |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,829,388 (GRCm39) |
V503A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,429 (GRCm39) |
H1060R |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,814 (GRCm39) |
R233Q |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,211 (GRCm39) |
K238R |
probably damaging |
Het |
| Flg |
T |
A |
3: 93,187,357 (GRCm39) |
S270T |
probably benign |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,519,659 (GRCm39) |
V32D |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
| Il2ra |
T |
A |
2: 11,652,790 (GRCm39) |
|
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,586,810 (GRCm39) |
L375P |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,854,499 (GRCm39) |
M254K |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,039 (GRCm39) |
I258T |
probably benign |
Het |
| Mbnl1 |
T |
C |
3: 60,523,165 (GRCm39) |
L328S |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,001,430 (GRCm39) |
D277G |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,014,005 (GRCm39) |
I364V |
probably benign |
Het |
| Myh7 |
G |
A |
14: 55,226,315 (GRCm39) |
R442C |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,090,511 (GRCm39) |
L968P |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,404 (GRCm39) |
T241A |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,542,188 (GRCm39) |
Y21N |
probably benign |
Het |
| Or8g53 |
T |
G |
9: 39,683,916 (GRCm39) |
Y60S |
probably damaging |
Het |
| Per1 |
C |
T |
11: 68,993,730 (GRCm39) |
P403S |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,661,730 (GRCm39) |
I723V |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,153,943 (GRCm38) |
T555A |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,703,194 (GRCm39) |
M187I |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,517,453 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Stx1b |
G |
A |
7: 127,407,077 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tsc22d4 |
T |
A |
5: 137,757,351 (GRCm39) |
M35K |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,218 (GRCm39) |
K452E |
probably damaging |
Het |
| Zfp386 |
A |
G |
12: 116,024,133 (GRCm39) |
N582S |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,440,976 (GRCm39) |
V437A |
possibly damaging |
Het |
| Zfp599 |
T |
C |
9: 22,160,947 (GRCm39) |
Y406C |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,315,501 (GRCm39) |
S1325F |
probably damaging |
Het |
|
| Other mutations in Gnl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01977:Gnl2
|
APN |
4 |
124,941,405 (GRCm39) |
splice site |
probably null |
|
|
IGL02536:Gnl2
|
APN |
4 |
124,946,401 (GRCm39) |
nonsense |
probably null |
|
|
IGL03358:Gnl2
|
APN |
4 |
124,946,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Gnl2
|
UTSW |
4 |
124,940,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Gnl2
|
UTSW |
4 |
124,940,175 (GRCm39) |
splice site |
probably benign |
|
|
R0419:Gnl2
|
UTSW |
4 |
124,947,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Gnl2
|
UTSW |
4 |
124,942,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1529:Gnl2
|
UTSW |
4 |
124,940,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Gnl2
|
UTSW |
4 |
124,938,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Gnl2
|
UTSW |
4 |
124,923,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2095:Gnl2
|
UTSW |
4 |
124,928,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Gnl2
|
UTSW |
4 |
124,947,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3712:Gnl2
|
UTSW |
4 |
124,940,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3781:Gnl2
|
UTSW |
4 |
124,931,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4656:Gnl2
|
UTSW |
4 |
124,934,790 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Gnl2
|
UTSW |
4 |
124,947,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4710:Gnl2
|
UTSW |
4 |
124,947,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4734:Gnl2
|
UTSW |
4 |
124,934,811 (GRCm39) |
missense |
probably benign |
|
|
R4916:Gnl2
|
UTSW |
4 |
124,937,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Gnl2
|
UTSW |
4 |
124,947,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5310:Gnl2
|
UTSW |
4 |
124,946,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5506:Gnl2
|
UTSW |
4 |
124,949,158 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5967:Gnl2
|
UTSW |
4 |
124,934,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6395:Gnl2
|
UTSW |
4 |
124,940,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6432:Gnl2
|
UTSW |
4 |
124,946,353 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6672:Gnl2
|
UTSW |
4 |
124,942,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Gnl2
|
UTSW |
4 |
124,923,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8387:Gnl2
|
UTSW |
4 |
124,949,127 (GRCm39) |
makesense |
probably null |
|
|
R8408:Gnl2
|
UTSW |
4 |
124,938,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9083:Gnl2
|
UTSW |
4 |
124,941,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Gnl2
|
UTSW |
4 |
124,947,250 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
RF003:Gnl2
|
UTSW |
4 |
124,937,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACACAGGGCTTGTTCCTACAG -3'
(R):5'- CTCAAAATGGACTTCTACTGCTC -3'
Sequencing Primer
(F):5'- ACAGGGCTTGTTCCTACAGTAGTC -3'
(R):5'- CAAAATGGACTTCTACTGCTCTTTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation