Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Nuggc'

586604

Institutional Source

Beutler Lab

Gene Symbol

Nuggc

Ensembl Gene

ENSMUSG00000061356

Gene Name

nuclear GTPase, germinal center associated

Synonyms

Gm600, SLIP-GC, LOC239151

MMRRC Submission

045663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65598546-65648531 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65648174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 766 (V766A)

Ref Sequence

ENSEMBL: ENSMUSP00000078434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079469] [ENSMUST00000150897]

AlphaFold

D3YWJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000079469
AA Change: V766A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: V766A

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: V750A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: V750A

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

97% (66/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,183,533 (GRCm38)	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,921,090 (GRCm38)	T75P	probably benign	Het
4930516K23Rik	T	C	7: 104,058,897 (GRCm38)	E235G	probably benign	Het
Adam15	A	G	3: 89,344,192 (GRCm38)	C449R	probably damaging	Het
Adam24	T	C	8: 40,680,255 (GRCm38)	V254A	probably benign	Het
Akap9	C	G	5: 3,968,745 (GRCm38)	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,618,002 (GRCm38)	R98S	probably damaging	Het
Alg9	A	G	9: 50,789,535 (GRCm38)	I202V	probably benign	Het
Anks1b	G	A	10: 90,049,927 (GRCm38)	E162K	probably damaging	Het
Armc4	A	T	18: 7,211,593 (GRCm38)	D760E	probably benign	Het
Atp6v1b2	A	G	8: 69,103,476 (GRCm38)	T268A	probably benign	Het
Atxn1	C	T	13: 45,567,358 (GRCm38)	V354I	probably benign	Het
B3galt1	A	G	2: 68,118,552 (GRCm38)	T204A	probably damaging	Het
Catsperb	T	A	12: 101,588,285 (GRCm38)	I746K	probably benign	Het
Cdh23	G	A	10: 60,407,407 (GRCm38)	T1063M	probably benign	Het
Cherp	G	A	8: 72,464,258 (GRCm38)	R543C		Het
Cldn20	A	G	17: 3,532,999 (GRCm38)	D149G	probably damaging	Het
Clk2	A	G	3: 89,176,500 (GRCm38)	Q474R	probably benign	Het
Cp	A	G	3: 19,989,098 (GRCm38)	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,510,956 (GRCm38)	L29P	probably damaging	Het
Dscr3	A	C	16: 94,499,069 (GRCm38)	N275K	probably damaging	Het
Ebf3	C	T	7: 137,313,532 (GRCm38)	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,549,871 (GRCm38)	M183L	probably damaging	Het
Fam160a1	G	T	3: 85,665,898 (GRCm38)	L915I	probably damaging	Het
Fam71d	T	C	12: 78,715,501 (GRCm38)		probably null	Het
Filip1l	A	G	16: 57,513,282 (GRCm38)	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,031 (GRCm38)	S283G	possibly damaging	Het
Fras1	A	T	5: 96,684,437 (GRCm38)	Y1543F	probably damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Gjd3	A	G	11: 98,982,475 (GRCm38)	V181A	probably damaging	Het
Gm49368	T	A	7: 128,112,258 (GRCm38)	C711*	probably null	Het
Gtf3c2	A	G	5: 31,172,997 (GRCm38)	S210P	probably benign	Het
Herc2	A	G	7: 56,134,800 (GRCm38)	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,631,624 (GRCm38)	D128E	probably benign	Het
Itgav	T	A	2: 83,747,875 (GRCm38)	D113E	probably benign	Het
Kcnd3	A	G	3: 105,459,617 (GRCm38)	M268V	probably benign	Het
Kirrel3	G	T	9: 34,939,112 (GRCm38)	G19V	probably damaging	Het
Klf17	T	G	4: 117,760,719 (GRCm38)	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,665,383 (GRCm38)	R22H	probably damaging	Het
Lysmd4	T	A	7: 67,226,289 (GRCm38)	Y233*	probably null	Het
Lyzl6	A	G	11: 103,635,006 (GRCm38)	V96A	probably benign	Het
Mki67	T	C	7: 135,700,915 (GRCm38)	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,504,528 (GRCm38)	H399Q	probably benign	Het
Oas1c	A	T	5: 120,802,179 (GRCm38)	D307E	probably damaging	Het
Olfr432	T	A	1: 174,050,700 (GRCm38)	M109K	possibly damaging	Het
Olfr785	T	C	10: 129,409,675 (GRCm38)	I103T	probably damaging	Het
P4ha3	T	C	7: 100,293,914 (GRCm38)	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068 (GRCm38)		probably benign	Het
Pkhd1	T	C	1: 20,347,361 (GRCm38)	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,411,290 (GRCm38)	D433G	probably benign	Het
Ptcd3	A	G	6: 71,908,707 (GRCm38)	S12P	probably benign	Het
Ptpn23	T	A	9: 110,387,608 (GRCm38)	Q1060L	probably benign	Het
Rai14	C	T	15: 10,593,103 (GRCm38)	G152R	probably damaging	Het
Rai14	G	T	15: 10,574,828 (GRCm38)	N710K	probably benign	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932 (GRCm38)		probably benign	Het
Satb2	A	G	1: 56,871,784 (GRCm38)	V234A	probably benign	Het
Scg2	T	C	1: 79,436,895 (GRCm38)	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,740,579 (GRCm38)	S230T	probably damaging	Het
Slc39a2	T	C	14: 51,895,416 (GRCm38)	V272A	probably damaging	Het
Smg7	T	A	1: 152,845,430 (GRCm38)	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,168,146 (GRCm38)	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,932,862 (GRCm38)	F102L	probably benign	Het
Sstr3	T	C	15: 78,540,517 (GRCm38)	E10G	probably benign	Het
Tekt3	A	T	11: 63,094,660 (GRCm38)	I431F	probably damaging	Het
Trio	C	T	15: 27,854,939 (GRCm38)	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,549,913 (GRCm38)	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,231,442 (GRCm38)	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,954,344 (GRCm38)	K577*	probably null	Het
Yes1	G	A	5: 32,645,086 (GRCm38)	R115Q	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
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
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'- GGCTTTTAAAGGGGTAGGCTCC -3'
(R):5'- TCTCTTTAGACAAAAGCCCCTC -3'

Sequencing Primer
(F):5'- TTAAGAGTGATCTTCCCACATCAC -3'
(R):5'- CTCCTCCCCAAACTAAAGTTTTG -3'

Posted On

2019-10-24