Incidental Mutation 'R8914:Nuggc'
ID |
678849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuggc
|
Ensembl Gene |
ENSMUSG00000061356 |
Gene Name |
nuclear GTPase, germinal center associated |
Synonyms |
SLIP-GC, Gm600, LOC239151 |
MMRRC Submission |
068766-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R8914 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
65835995-65885980 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65879354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 705
(V705I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
AlphaFold |
D3YWJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079469
AA Change: V705I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078434 Gene: ENSMUSG00000061356 AA Change: V705I
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
AA Change: V689I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118402 Gene: ENSMUSG00000061356 AA Change: V689I
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (62/62) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5330417H12Rik |
C |
T |
7: 107,223,922 (GRCm39) |
E51K |
unknown |
Het |
Akr1c20 |
T |
C |
13: 4,561,215 (GRCm39) |
D146G |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,000,843 (GRCm39) |
C205* |
probably null |
Het |
Ap3s2 |
A |
G |
7: 79,564,911 (GRCm39) |
I86T |
probably benign |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atp9a |
C |
T |
2: 168,479,420 (GRCm39) |
|
probably null |
Het |
Bcl11b |
C |
A |
12: 107,883,163 (GRCm39) |
R384L |
probably damaging |
Het |
Bltp3a |
T |
G |
17: 28,105,887 (GRCm39) |
D804E |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,465,208 (GRCm39) |
D1657E |
probably damaging |
Het |
Cabyr |
C |
A |
18: 12,884,077 (GRCm39) |
T188N |
probably damaging |
Het |
Capn5 |
C |
A |
7: 97,784,997 (GRCm39) |
W159L |
probably damaging |
Het |
Ccdc121rt3 |
A |
T |
5: 112,503,087 (GRCm39) |
Y206N |
probably damaging |
Het |
Ccnl1 |
A |
T |
3: 65,854,080 (GRCm39) |
S514T |
unknown |
Het |
Cdk14 |
G |
T |
5: 5,086,515 (GRCm39) |
H286Q |
possibly damaging |
Het |
Cpsf3 |
T |
A |
12: 21,345,112 (GRCm39) |
H141Q |
probably damaging |
Het |
Ddx24 |
A |
G |
12: 103,390,665 (GRCm39) |
S109P |
possibly damaging |
Het |
Dnmt3a |
A |
T |
12: 3,916,192 (GRCm39) |
R126* |
probably null |
Het |
Dpys |
C |
A |
15: 39,720,619 (GRCm39) |
R47L |
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,152,090 (GRCm39) |
V361A |
probably benign |
Het |
Epha7 |
T |
G |
4: 28,963,892 (GRCm39) |
D962E |
probably damaging |
Het |
Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
Fyb2 |
T |
C |
4: 104,857,700 (GRCm39) |
S626P |
probably benign |
Het |
Gtpbp1 |
T |
A |
15: 79,600,393 (GRCm39) |
V442D |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,422,188 (GRCm39) |
I973F |
probably damaging |
Het |
Igkv1-99 |
A |
C |
6: 68,519,340 (GRCm39) |
K99T |
|
Het |
Igkv6-14 |
C |
T |
6: 70,412,180 (GRCm39) |
V35I |
probably benign |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Klk1b9 |
C |
T |
7: 43,628,925 (GRCm39) |
T143I |
possibly damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Mettl15 |
A |
C |
2: 108,967,625 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
G |
7: 135,299,595 (GRCm39) |
V1813A |
|
Het |
Mrps30 |
A |
G |
13: 118,523,755 (GRCm39) |
Y6H |
possibly damaging |
Het |
Mthfd1 |
T |
A |
12: 76,329,710 (GRCm39) |
I176K |
probably benign |
Het |
Nckap5l |
C |
T |
15: 99,323,761 (GRCm39) |
G914D |
probably damaging |
Het |
Nemf |
C |
A |
12: 69,363,089 (GRCm39) |
E930* |
probably null |
Het |
Omd |
A |
T |
13: 49,745,718 (GRCm39) |
K376M |
probably damaging |
Het |
Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or4k42 |
C |
A |
2: 111,320,004 (GRCm39) |
L166F |
probably damaging |
Het |
Or51l14 |
T |
A |
7: 103,101,090 (GRCm39) |
L182Q |
probably damaging |
Het |
Or5g27 |
A |
G |
2: 85,410,056 (GRCm39) |
T158A |
possibly damaging |
Het |
Or5p68 |
A |
G |
7: 107,945,759 (GRCm39) |
V143A |
probably benign |
Het |
Or6c200-ps1 |
C |
A |
10: 128,871,372 (GRCm39) |
M2I |
probably benign |
Het |
Pi15 |
A |
G |
1: 17,691,962 (GRCm39) |
Y217C |
probably damaging |
Het |
Pou5f1 |
T |
C |
17: 35,821,371 (GRCm39) |
S328P |
probably benign |
Het |
Pparg |
T |
A |
6: 115,440,133 (GRCm39) |
S236T |
probably benign |
Het |
Prss23 |
T |
C |
7: 89,159,854 (GRCm39) |
T72A |
probably benign |
Het |
Ptprb |
C |
A |
10: 116,158,567 (GRCm39) |
S546* |
probably null |
Het |
Ranbp9 |
A |
G |
13: 43,578,560 (GRCm39) |
I171T |
probably benign |
Het |
Rap1gap2 |
A |
T |
11: 74,326,587 (GRCm39) |
L160* |
probably null |
Het |
Rfxap |
T |
C |
3: 54,715,042 (GRCm39) |
T19A |
probably benign |
Het |
Sctr |
T |
A |
1: 119,959,386 (GRCm39) |
F95I |
probably benign |
Het |
Sf3b3 |
T |
A |
8: 111,540,439 (GRCm39) |
Q994L |
probably benign |
Het |
Slfn9 |
A |
T |
11: 82,872,132 (GRCm39) |
I868N |
probably damaging |
Het |
Top3a |
A |
T |
11: 60,631,405 (GRCm39) |
C986S |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,272,847 (GRCm39) |
L245Q |
unknown |
Het |
Trim27 |
A |
G |
13: 21,364,993 (GRCm39) |
D110G |
possibly damaging |
Het |
Ubxn2a |
T |
C |
12: 4,930,754 (GRCm39) |
D202G |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,607,122 (GRCm39) |
K36R |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,293,604 (GRCm39) |
T252A |
|
Het |
Vmn1r73 |
C |
A |
7: 11,490,328 (GRCm39) |
H49N |
probably damaging |
Het |
Vmn2r117 |
C |
T |
17: 23,679,143 (GRCm39) |
V694I |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,038,983 (GRCm39) |
F853L |
probably benign |
Het |
Vmn2r55 |
A |
T |
7: 12,405,024 (GRCm39) |
H126Q |
probably benign |
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 |
R8861:Nuggc
|
UTSW |
14 |
65,847,484 (GRCm39) |
critical splice donor site |
probably null |
|
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'- ATGTACATGTGCGTTTCTGC -3'
(R):5'- CCATGTGGCCATATGCTAGG -3'
Sequencing Primer
(F):5'- GCTTGCTTGCTTGCCCGG -3'
(R):5'- GATGGCATCCAGCTCTACTG -3'
|
Posted On |
2021-08-02 |