Incidental Mutation 'R6971:Nuggc'
| ID |
542271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
Gm600, SLIP-GC, LOC239151 |
| MMRRC Submission |
045081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65598546-65648531 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65608856 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 72
(V72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
| AlphaFold |
D3YWJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079469
AA Change: V88A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: V88A
| 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: V72A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: V72A
| 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: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,165,041 (GRCm38) |
T32S |
possibly damaging |
Het |
| 2210408I21Rik |
A |
G |
13: 77,193,187 (GRCm38) |
S52G |
possibly damaging |
Het |
| Aadacl4 |
G |
A |
4: 144,622,733 (GRCm38) |
V187M |
probably damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,223,476 (GRCm38) |
Q1094L |
probably benign |
Het |
| Amigo1 |
C |
T |
3: 108,188,136 (GRCm38) |
S317L |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,534,005 (GRCm38) |
F32L |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,609,050 (GRCm38) |
|
probably null |
Het |
| Ccdc88c |
A |
T |
12: 100,954,227 (GRCm38) |
D378E |
probably damaging |
Het |
| Ccdc97 |
G |
T |
7: 25,714,959 (GRCm38) |
Y123* |
probably null |
Het |
| Cdk10 |
T |
A |
8: 123,227,674 (GRCm38) |
M46K |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 19,966,218 (GRCm38) |
|
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,188,203 (GRCm38) |
N254Y |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,481,121 (GRCm38) |
R768* |
probably null |
Het |
| Glra1 |
A |
T |
11: 55,536,499 (GRCm38) |
Y3* |
probably null |
Het |
| Gltpd2 |
A |
G |
11: 70,520,464 (GRCm38) |
T194A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,748,743 (GRCm38) |
L2301* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,993,051 (GRCm38) |
M1L |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,432,321 (GRCm38) |
E4133K |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,011,535 (GRCm38) |
L714I |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm38) |
V164A |
possibly damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,797,311 (GRCm38) |
|
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,190,631 (GRCm38) |
Y224N |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,512,908 (GRCm38) |
L624S |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,550,561 (GRCm38) |
Y720H |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,542,429 (GRCm38) |
H385Y |
possibly damaging |
Het |
| Msl2 |
T |
C |
9: 101,100,843 (GRCm38) |
F139L |
probably benign |
Het |
| Olfr826 |
A |
T |
10: 130,180,769 (GRCm38) |
V37E |
possibly damaging |
Het |
| Pde2a |
T |
A |
7: 101,510,313 (GRCm38) |
Y783* |
probably null |
Het |
| Pfkfb2 |
A |
G |
1: 130,700,796 (GRCm38) |
Y358H |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,931,689 (GRCm38) |
S23P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,159,501 (GRCm38) |
|
probably null |
Het |
| Prss36 |
T |
C |
7: 127,945,238 (GRCm38) |
T92A |
probably benign |
Het |
| Rnft2 |
A |
G |
5: 118,194,570 (GRCm38) |
|
probably benign |
Het |
| Sbno2 |
A |
G |
10: 80,060,034 (GRCm38) |
V971A |
possibly damaging |
Het |
| Sec63 |
A |
G |
10: 42,783,442 (GRCm38) |
E42G |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,415,740 (GRCm38) |
L371Q |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,166,693 (GRCm38) |
I807F |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,709,610 (GRCm38) |
|
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,099,290 (GRCm38) |
I556V |
possibly damaging |
Het |
| Stim2 |
T |
A |
5: 54,118,299 (GRCm38) |
C605* |
probably null |
Het |
| Tecrl |
T |
C |
5: 83,354,802 (GRCm38) |
T67A |
possibly damaging |
Het |
| Ttc33 |
C |
A |
15: 5,212,042 (GRCm38) |
A116E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,942,049 (GRCm38) |
T2503I |
possibly damaging |
Het |
| Ubp1 |
T |
C |
9: 113,972,763 (GRCm38) |
I468T |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,718,115 (GRCm38) |
H74Q |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,678,133 (GRCm38) |
I2224T |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,036,415 (GRCm38) |
N150K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,259,247 (GRCm38) |
M821T |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,024,691 (GRCm38) |
A866S |
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 |
|
R6922:Nuggc
|
UTSW |
14 |
65,617,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- AAGTTCTGTGGTAAGCGGGC -3'
(R):5'- AAGAAAGCCTGCAGCCATAG -3'
Sequencing Primer
(F):5'- AGTGAGTGCCTAGCTCCAGTG -3'
(R):5'- GCCTGCAGCCATAGGGATTTTTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation