Incidental Mutation 'R8861:Nuggc'
| ID |
675680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
SLIP-GC, Gm600, LOC239151 |
| MMRRC Submission |
068740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65835995-65885980 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 65847484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
| AlphaFold |
D3YWJ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079469
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamin_N
|
119 |
372 |
2.2e-15 |
PFAM |
|
low complexity region
|
406 |
421 |
N/A |
INTRINSIC |
|
Blast:AAA
|
434 |
739 |
4e-14 |
BLAST |
|
coiled coil region
|
758 |
792 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150897
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamin_N
|
103 |
356 |
6.1e-16 |
PFAM |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Blast:AAA
|
418 |
723 |
4e-14 |
BLAST |
|
coiled coil region
|
742 |
776 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased somatic mutation frequency immunoglobulin and non-immunoglobulin loci in B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,396,642 (GRCm39) |
|
probably benign |
Het |
| Acly |
A |
G |
11: 100,375,424 (GRCm39) |
|
probably null |
Het |
| Agap2 |
T |
G |
10: 126,926,383 (GRCm39) |
V896G |
unknown |
Het |
| Agtpbp1 |
T |
C |
13: 59,643,287 (GRCm39) |
Y724C |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,373 (GRCm39) |
N135D |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,189,460 (GRCm39) |
I387K |
probably benign |
Het |
| Bysl |
T |
C |
17: 47,917,884 (GRCm39) |
E103G |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,861,690 (GRCm39) |
K1168* |
probably null |
Het |
| Chmp5 |
T |
A |
4: 40,964,608 (GRCm39) |
V208E |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,585,630 (GRCm39) |
H311P |
possibly damaging |
Het |
| Cilk1 |
T |
A |
9: 78,071,844 (GRCm39) |
N505K |
probably benign |
Het |
| Dcaf11 |
C |
A |
14: 55,801,955 (GRCm39) |
Y235* |
probably null |
Het |
| Dlx5 |
A |
C |
6: 6,878,233 (GRCm39) |
S266A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,280,236 (GRCm39) |
S2722T |
possibly damaging |
Het |
| Drc1 |
G |
A |
5: 30,521,839 (GRCm39) |
|
probably benign |
Het |
| En2 |
T |
A |
5: 28,371,733 (GRCm39) |
I70N |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,466,656 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Fermt2 |
A |
T |
14: 45,697,466 (GRCm39) |
F628L |
possibly damaging |
Het |
| Fkrp |
T |
A |
7: 16,544,749 (GRCm39) |
D371V |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,195,149 (GRCm39) |
L283P |
unknown |
Het |
| Gm13271 |
G |
A |
4: 88,673,366 (GRCm39) |
V88I |
probably benign |
Het |
| Gnmt |
G |
A |
17: 47,037,618 (GRCm39) |
T120M |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,353,290 (GRCm39) |
V10D |
possibly damaging |
Het |
| Hbs1l |
T |
A |
10: 21,220,963 (GRCm39) |
|
probably benign |
Het |
| Igf2bp3 |
A |
C |
6: 49,082,550 (GRCm39) |
M344R |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,217,582 (GRCm39) |
V347A |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,851,865 (GRCm39) |
S2R |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,675,164 (GRCm39) |
S199P |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,590,094 (GRCm39) |
Q44L |
probably benign |
Het |
| Map3k20 |
C |
A |
2: 72,219,811 (GRCm39) |
|
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,234,825 (GRCm39) |
Y549N |
|
Het |
| Mcoln3 |
T |
A |
3: 145,845,159 (GRCm39) |
F452I |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,352,802 (GRCm39) |
V47A |
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,607,105 (GRCm39) |
L145S |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,064,646 (GRCm39) |
I224N |
|
Het |
| Nat8f1 |
A |
G |
6: 85,887,444 (GRCm39) |
L172P |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,567,364 (GRCm39) |
K438I |
probably benign |
Het |
| Nr1h3 |
T |
G |
2: 91,024,026 (GRCm39) |
|
probably benign |
Het |
| Or4b12 |
T |
C |
2: 90,096,803 (GRCm39) |
|
probably benign |
Het |
| Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
| Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,456 (GRCm39) |
Y98N |
probably benign |
Het |
| Ppp6r2 |
T |
G |
15: 89,143,368 (GRCm39) |
C172G |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,446,186 (GRCm39) |
D979G |
probably damaging |
Het |
| Rbm28 |
A |
G |
6: 29,152,284 (GRCm39) |
I329T |
probably damaging |
Het |
| Rnf144a |
T |
C |
12: 26,389,343 (GRCm39) |
T33A |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,445,984 (GRCm39) |
T273A |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,333,062 (GRCm39) |
R2758H |
|
Het |
| Slc22a19 |
A |
T |
19: 7,660,324 (GRCm39) |
M362K |
possibly damaging |
Het |
| Slc29a4 |
G |
C |
5: 142,704,580 (GRCm39) |
R374P |
probably damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,691,748 (GRCm39) |
T528A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,801,630 (GRCm39) |
Y172N |
probably damaging |
Het |
| Srpra |
T |
A |
9: 35,127,045 (GRCm39) |
M573K |
probably benign |
Het |
| Steap4 |
A |
G |
5: 8,025,672 (GRCm39) |
I78V |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,974,606 (GRCm39) |
L26P |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,470,615 (GRCm39) |
K738E |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 135,981,810 (GRCm39) |
R56H |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,726 (GRCm39) |
V1575A |
probably damaging |
Het |
| Togaram1 |
T |
G |
12: 65,027,406 (GRCm39) |
S798R |
possibly damaging |
Het |
|
| Other mutations in Nuggc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Nuggc
|
APN |
14 |
65,860,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01403:Nuggc
|
APN |
14 |
65,860,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01413:Nuggc
|
APN |
14 |
65,876,030 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02588:Nuggc
|
APN |
14 |
65,855,226 (GRCm39) |
splice site |
probably benign |
|
|
R0102:Nuggc
|
UTSW |
14 |
65,851,000 (GRCm39) |
missense |
probably null |
1.00 |
|
R0102:Nuggc
|
UTSW |
14 |
65,851,000 (GRCm39) |
missense |
probably null |
1.00 |
|
R0395:Nuggc
|
UTSW |
14 |
65,850,921 (GRCm39) |
nonsense |
probably null |
|
|
R0827:Nuggc
|
UTSW |
14 |
65,846,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Nuggc
|
UTSW |
14 |
65,861,582 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1861:Nuggc
|
UTSW |
14 |
65,879,450 (GRCm39) |
splice site |
probably benign |
|
|
R1986:Nuggc
|
UTSW |
14 |
65,879,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1995:Nuggc
|
UTSW |
14 |
65,848,623 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2283:Nuggc
|
UTSW |
14 |
65,876,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2317:Nuggc
|
UTSW |
14 |
65,861,591 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3799:Nuggc
|
UTSW |
14 |
65,857,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3980:Nuggc
|
UTSW |
14 |
65,856,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4303:Nuggc
|
UTSW |
14 |
65,848,621 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4431:Nuggc
|
UTSW |
14 |
65,848,659 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4734:Nuggc
|
UTSW |
14 |
65,860,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Nuggc
|
UTSW |
14 |
65,872,539 (GRCm39) |
nonsense |
probably null |
|
|
R5108:Nuggc
|
UTSW |
14 |
65,876,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5360:Nuggc
|
UTSW |
14 |
65,876,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5547:Nuggc
|
UTSW |
14 |
65,879,330 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5636:Nuggc
|
UTSW |
14 |
65,885,637 (GRCm39) |
nonsense |
probably null |
|
|
R6494:Nuggc
|
UTSW |
14 |
65,885,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Nuggc
|
UTSW |
14 |
65,855,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Nuggc
|
UTSW |
14 |
65,846,305 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7124:Nuggc
|
UTSW |
14 |
65,846,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7273:Nuggc
|
UTSW |
14 |
65,857,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7282:Nuggc
|
UTSW |
14 |
65,855,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Nuggc
|
UTSW |
14 |
65,885,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Nuggc
|
UTSW |
14 |
65,850,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Nuggc
|
UTSW |
14 |
65,882,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Nuggc
|
UTSW |
14 |
65,860,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8250:Nuggc
|
UTSW |
14 |
65,879,318 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8329:Nuggc
|
UTSW |
14 |
65,878,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8334:Nuggc
|
UTSW |
14 |
65,882,478 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8463:Nuggc
|
UTSW |
14 |
65,851,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Nuggc
|
UTSW |
14 |
65,878,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8737:Nuggc
|
UTSW |
14 |
65,882,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8914:Nuggc
|
UTSW |
14 |
65,879,354 (GRCm39) |
missense |
probably benign |
|
|
R9573:Nuggc
|
UTSW |
14 |
65,848,603 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9666:Nuggc
|
UTSW |
14 |
65,857,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9792:Nuggc
|
UTSW |
14 |
65,847,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Nuggc
|
UTSW |
14 |
65,847,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9795:Nuggc
|
UTSW |
14 |
65,847,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF019:Nuggc
|
UTSW |
14 |
65,885,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGAATCACTGGAGCTGG -3'
(R):5'- GCATATGTGTACATGTTTGCCC -3'
Sequencing Primer
(F):5'- CTGGCAAGAGCTCTCTGATCAATG -3'
(R):5'- CTGGAGGTCCAAACTTAAGCCTATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation