Incidental Mutation 'R6922:Nuggc'
| ID |
539697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
Gm600, SLIP-GC, LOC239151 |
| MMRRC Submission |
045041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6922 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65598546-65648531 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65617643 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 325
(S325P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
| AlphaFold |
D3YWJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079469
AA Change: S341P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: S341P
| 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 damaging
Transcript: ENSMUST00000150897
AA Change: S325P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: S325P
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810013L24Rik |
A |
G |
16: 8,830,689 (GRCm38) |
|
probably null |
Het |
| Ago2 |
T |
C |
15: 73,113,752 (GRCm38) |
I665V |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,152,687 (GRCm38) |
M74L |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,304 (GRCm38) |
C90R |
possibly damaging |
Het |
| B3galt4 |
T |
A |
17: 33,950,847 (GRCm38) |
D139V |
probably damaging |
Het |
| Camta2 |
A |
C |
11: 70,674,138 (GRCm38) |
I852S |
probably benign |
Het |
| Cox4i2 |
G |
T |
2: 152,757,095 (GRCm38) |
E57D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,193,843 (GRCm38) |
I1055T |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 138,097,335 (GRCm38) |
P284S |
probably damaging |
Het |
| Ephb1 |
C |
A |
9: 101,929,264 (GRCm38) |
|
probably null |
Het |
| Fbxw7 |
A |
T |
3: 84,972,416 (GRCm38) |
|
probably null |
Het |
| Frem1 |
C |
A |
4: 82,922,269 (GRCm38) |
D1789Y |
probably damaging |
Het |
| Gm16368 |
T |
A |
12: 88,083,832 (GRCm38) |
W46R |
probably benign |
Het |
| Gm29106 |
A |
T |
1: 118,199,794 (GRCm38) |
R405S |
probably damaging |
Het |
| Gm609 |
A |
T |
16: 45,443,931 (GRCm38) |
M88K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,547,482 (GRCm38) |
V1567M |
possibly damaging |
Het |
| Heatr1 |
C |
A |
13: 12,435,075 (GRCm38) |
D1983E |
probably benign |
Het |
| Lhfpl2 |
G |
T |
13: 94,174,521 (GRCm38) |
A100S |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,605,301 (GRCm38) |
V1073D |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,302,198 (GRCm38) |
L364F |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,303,537 (GRCm38) |
L921P |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 119,727,727 (GRCm38) |
E49K |
probably damaging |
Het |
| Nsun5 |
A |
C |
5: 135,370,192 (GRCm38) |
N32T |
probably damaging |
Het |
| Olfr1135 |
T |
A |
2: 87,671,453 (GRCm38) |
K305* |
probably null |
Het |
| Olfr716 |
A |
G |
7: 107,148,083 (GRCm38) |
I256V |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,715,657 (GRCm38) |
D239G |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,553,447 (GRCm38) |
D523G |
probably benign |
Het |
| Prokr1 |
C |
A |
6: 87,588,473 (GRCm38) |
W130L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,490,736 (GRCm38) |
N266S |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,106,031 (GRCm38) |
V5A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,030,385 (GRCm38) |
L1140P |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,211,425 (GRCm38) |
D3640G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,691,349 (GRCm38) |
E916G |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,243,894 (GRCm38) |
H160Q |
probably damaging |
Het |
| Svs1 |
T |
G |
6: 48,987,574 (GRCm38) |
F172C |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,256,953 (GRCm38) |
|
probably null |
Het |
| Tmprss4 |
A |
G |
9: 45,185,922 (GRCm38) |
V15A |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 71,707,134 (GRCm38) |
L559P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,335,846 (GRCm38) |
L990H |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,909,614 (GRCm38) |
T278A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,774,436 (GRCm38) |
L18385F |
probably damaging |
Het |
| Upf3a |
G |
T |
8: 13,791,911 (GRCm38) |
A149S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Zfp316 |
A |
T |
5: 143,253,525 (GRCm38) |
F913Y |
probably damaging |
Het |
|
| Other mutations in Nuggc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Nuggc
|
APN |
14 |
65,623,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01403:Nuggc
|
APN |
14 |
65,623,186 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01413:Nuggc
|
APN |
14 |
65,638,581 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02588:Nuggc
|
APN |
14 |
65,617,777 (GRCm38) |
splice site |
probably benign |
|
|
R0102:Nuggc
|
UTSW |
14 |
65,613,551 (GRCm38) |
missense |
probably null |
1.00 |
|
R0102:Nuggc
|
UTSW |
14 |
65,613,551 (GRCm38) |
missense |
probably null |
1.00 |
|
R0395:Nuggc
|
UTSW |
14 |
65,613,472 (GRCm38) |
nonsense |
probably null |
|
|
R0827:Nuggc
|
UTSW |
14 |
65,608,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1496:Nuggc
|
UTSW |
14 |
65,624,133 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1861:Nuggc
|
UTSW |
14 |
65,642,001 (GRCm38) |
splice site |
probably benign |
|
|
R1986:Nuggc
|
UTSW |
14 |
65,641,921 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1995:Nuggc
|
UTSW |
14 |
65,611,174 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2283:Nuggc
|
UTSW |
14 |
65,638,612 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2317:Nuggc
|
UTSW |
14 |
65,624,142 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R3799:Nuggc
|
UTSW |
14 |
65,619,638 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3980:Nuggc
|
UTSW |
14 |
65,619,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4303:Nuggc
|
UTSW |
14 |
65,611,172 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4431:Nuggc
|
UTSW |
14 |
65,611,210 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4734:Nuggc
|
UTSW |
14 |
65,623,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5095:Nuggc
|
UTSW |
14 |
65,635,090 (GRCm38) |
nonsense |
probably null |
|
|
R5108:Nuggc
|
UTSW |
14 |
65,638,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5360:Nuggc
|
UTSW |
14 |
65,638,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5547:Nuggc
|
UTSW |
14 |
65,641,881 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5636:Nuggc
|
UTSW |
14 |
65,648,188 (GRCm38) |
nonsense |
probably null |
|
|
R6494:Nuggc
|
UTSW |
14 |
65,648,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6971:Nuggc
|
UTSW |
14 |
65,608,856 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7124:Nuggc
|
UTSW |
14 |
65,608,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7273:Nuggc
|
UTSW |
14 |
65,619,608 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7282:Nuggc
|
UTSW |
14 |
65,617,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7578:Nuggc
|
UTSW |
14 |
65,648,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7670:Nuggc
|
UTSW |
14 |
65,613,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7780:Nuggc
|
UTSW |
14 |
65,645,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7871:Nuggc
|
UTSW |
14 |
65,623,251 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8250:Nuggc
|
UTSW |
14 |
65,641,869 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8329:Nuggc
|
UTSW |
14 |
65,641,282 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8334:Nuggc
|
UTSW |
14 |
65,645,029 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8463:Nuggc
|
UTSW |
14 |
65,613,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Nuggc
|
UTSW |
14 |
65,641,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8737:Nuggc
|
UTSW |
14 |
65,645,086 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8861:Nuggc
|
UTSW |
14 |
65,610,035 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8914:Nuggc
|
UTSW |
14 |
65,641,905 (GRCm38) |
missense |
probably benign |
|
|
R9573:Nuggc
|
UTSW |
14 |
65,611,154 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9666:Nuggc
|
UTSW |
14 |
65,619,596 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9792:Nuggc
|
UTSW |
14 |
65,609,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9793:Nuggc
|
UTSW |
14 |
65,609,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9795:Nuggc
|
UTSW |
14 |
65,609,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF019:Nuggc
|
UTSW |
14 |
65,648,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGAGCCACTTTGTTGG -3'
(R):5'- TTTCATAGCCAGAACCCAGG -3'
Sequencing Primer
(F):5'- CAGAGTGGAGTGGGAGCTCTG -3'
(R):5'- GAAAGAAAGTCCCCAGGCTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation