Incidental Mutation 'R0102:Nuggc'
| ID |
63306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
Gm600, SLIP-GC, LOC239151 |
| MMRRC Submission |
038388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R0102 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65598546-65648531 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65613551 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 290
(D290G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
| AlphaFold |
D3YWJ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079469
AA Change: D306G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: D306G
| 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 null
Transcript: ENSMUST00000150897
AA Change: D290G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: D290G
| 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 |
|
| Meta Mutation Damage Score |
0.8792 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 138,068,113 (GRCm38) |
K1021R |
probably damaging |
Het |
| 2610528J11Rik |
G |
A |
4: 118,529,565 (GRCm38) |
V36M |
probably damaging |
Het |
| 4930402F06Rik |
T |
A |
2: 35,375,783 (GRCm38) |
R292* |
probably null |
Het |
| Abcb4 |
T |
C |
5: 8,909,194 (GRCm38) |
F207S |
probably damaging |
Het |
| Afap1l2 |
G |
T |
19: 56,928,440 (GRCm38) |
|
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,845,465 (GRCm38) |
H203L |
probably benign |
Het |
| Cfi |
A |
C |
3: 129,848,767 (GRCm38) |
H90P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,520,775 (GRCm38) |
S371T |
possibly damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,404,593 (GRCm38) |
M229I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,751 (GRCm38) |
|
probably benign |
Het |
| Dnttip2 |
G |
T |
3: 122,275,803 (GRCm38) |
M222I |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 104,428,125 (GRCm38) |
Y284N |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,991,455 (GRCm38) |
Y413H |
probably benign |
Het |
| Exog |
A |
G |
9: 119,452,253 (GRCm38) |
T186A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,444,113 (GRCm38) |
N66S |
possibly damaging |
Het |
| Gad1 |
G |
A |
2: 70,587,239 (GRCm38) |
|
probably null |
Het |
| Golgb1 |
C |
A |
16: 36,875,468 (GRCm38) |
|
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,079,035 (GRCm38) |
N160I |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,165,914 (GRCm38) |
|
probably null |
Het |
| Klhl20 |
A |
T |
1: 161,090,445 (GRCm38) |
C90* |
probably null |
Het |
| Krt84 |
T |
A |
15: 101,528,703 (GRCm38) |
I342L |
probably damaging |
Het |
| Lifr |
G |
A |
15: 7,178,892 (GRCm38) |
D584N |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,408,985 (GRCm38) |
|
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 29,022,227 (GRCm38) |
|
probably benign |
Het |
| Med25 |
C |
T |
7: 44,885,480 (GRCm38) |
V80I |
possibly damaging |
Het |
| Mest |
A |
G |
6: 30,746,270 (GRCm38) |
I279V |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,713,803 (GRCm38) |
R81G |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,435,569 (GRCm38) |
D787G |
possibly damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,112,504 (GRCm38) |
P465S |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,176,134 (GRCm38) |
R133Q |
probably damaging |
Het |
| Necab3 |
G |
A |
2: 154,545,312 (GRCm38) |
R302C |
probably damaging |
Het |
| Nsg1 |
A |
T |
5: 38,158,910 (GRCm38) |
D32E |
probably damaging |
Het |
| Nup205 |
A |
T |
6: 35,225,780 (GRCm38) |
|
probably benign |
Het |
| Olfr1100 |
A |
T |
2: 86,978,205 (GRCm38) |
I197N |
possibly damaging |
Het |
| Olfr1216 |
T |
C |
2: 89,013,671 (GRCm38) |
Y131C |
probably damaging |
Het |
| Olfr1250 |
T |
C |
2: 89,656,655 (GRCm38) |
N262S |
probably benign |
Het |
| Olfr1308 |
G |
C |
2: 111,960,597 (GRCm38) |
Q159E |
probably damaging |
Het |
| Olfr1361 |
T |
C |
13: 21,658,735 (GRCm38) |
D196G |
probably damaging |
Het |
| Olfr743 |
T |
A |
14: 50,533,631 (GRCm38) |
L73Q |
probably damaging |
Het |
| Otp |
T |
C |
13: 94,877,155 (GRCm38) |
V27A |
probably benign |
Het |
| Phip |
A |
T |
9: 82,905,792 (GRCm38) |
|
probably null |
Het |
| Pon2 |
A |
G |
6: 5,289,091 (GRCm38) |
|
probably benign |
Het |
| Ppp1r12b |
T |
A |
1: 134,835,899 (GRCm38) |
|
probably null |
Het |
| Ppp1r15b |
A |
G |
1: 133,133,170 (GRCm38) |
N475S |
probably damaging |
Het |
| Prrt3 |
A |
T |
6: 113,497,829 (GRCm38) |
L144H |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,643,365 (GRCm38) |
V50A |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,204,568 (GRCm38) |
S1354R |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,583,964 (GRCm38) |
T29A |
probably benign |
Het |
| Shbg |
T |
A |
11: 69,617,589 (GRCm38) |
|
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,744,452 (GRCm38) |
I447T |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,135,849 (GRCm38) |
V48A |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,406,983 (GRCm38) |
C322S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,746,752 (GRCm38) |
F260L |
probably damaging |
Het |
| Trim10 |
C |
A |
17: 36,870,182 (GRCm38) |
H102N |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,549,925 (GRCm38) |
T215A |
possibly damaging |
Het |
| Vcan |
T |
G |
13: 89,703,668 (GRCm38) |
T1058P |
probably benign |
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 |
|
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 |
|
R6922:Nuggc
|
UTSW |
14 |
65,617,643 (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'- GCATCACAGTCAGCCCAGGATAAAG -3'
(R):5'- CCTGCCCTGTTTAACACCTGAACAC -3'
Sequencing Primer
(F):5'- CAGCCCAGGATAAAGAGCTGTC -3'
(R):5'- TTAACACCTGAACACAGAATATGAGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation