Mutagenetix > Incidental Mutation

Incidental Mutation 'R8334:Nuggc'

644544

Institutional Source

Beutler Lab

Gene Symbol

Nuggc

Ensembl Gene

ENSMUSG00000061356

Gene Name

nuclear GTPase, germinal center associated

Synonyms

Gm600, SLIP-GC, LOC239151

MMRRC Submission

067862-MU

Accession Numbers

Essential gene?

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

Stock #

R8334 (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 65645029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 741 (V741A)

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: V741A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: V741A

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: V725A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: V725A

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

98% (63/64)

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
9530077C05Rik	A	G	9: 22,444,118 (GRCm38)	E483G	probably benign	Het
Abca8a	A	T	11: 110,068,824 (GRCm38)	S696T	probably damaging	Het
Abhd12	T	C	2: 150,858,453 (GRCm38)	I75V	probably benign	Het
Adamts9	T	C	6: 92,937,244 (GRCm38)		probably null	Het
Ap2a1	C	T	7: 44,904,711 (GRCm38)	V499I	possibly damaging	Het
Arhgef16	T	A	4: 154,282,767 (GRCm38)	K394*	probably null	Het
Armc2	A	G	10: 41,923,765 (GRCm38)	F699S	probably damaging	Het
Atat1	C	T	17: 35,909,258 (GRCm38)		probably null	Het
Atm	A	G	9: 53,522,273 (GRCm38)	S226P	probably benign	Het
Bcas3	A	G	11: 85,576,811 (GRCm38)	T687A	possibly damaging	Het
Bmp2k	T	C	5: 97,027,894 (GRCm38)	M78T	possibly damaging	Het
Brinp3	T	A	1: 146,902,053 (GRCm38)	L746H	probably damaging	Het
Capn8	G	A	1: 182,611,105 (GRCm38)		probably null	Het
Ccdc154	T	A	17: 25,171,607 (GRCm38)	F602I	probably damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,841,272 (GRCm38)		probably null	Het
Chd3	A	G	11: 69,350,796 (GRCm38)	F1504L	probably damaging	Het
Cpsf1	A	T	15: 76,603,587 (GRCm38)	N77K	probably benign	Het
Crybb3	T	A	5: 113,075,979 (GRCm38)	Q188L	possibly damaging	Het
Dnah8	T	A	17: 30,769,831 (GRCm38)	H3258Q	probably benign	Het
Dnajb6	C	T	5: 29,781,240 (GRCm38)	R269W	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611 (GRCm38)		probably benign	Het
Ech1	A	G	7: 28,831,823 (GRCm38)	I279V	probably benign	Het
Ehbp1	C	A	11: 22,007,170 (GRCm38)	R1173L	probably damaging	Het
Ehd4	T	C	2: 120,137,064 (GRCm38)	E83G	probably damaging	Het
Epha7	A	G	4: 28,938,777 (GRCm38)	E544G	probably benign	Het
Esp23	A	G	17: 39,073,904 (GRCm38)	V67A	possibly damaging	Het
Etl4	T	C	2: 20,781,046 (GRCm38)	V726A	probably damaging	Het
Fbxo39	G	A	11: 72,317,644 (GRCm38)	W274*	probably null	Het
Filip1l	T	C	16: 57,570,147 (GRCm38)	I366T	probably benign	Het
Gm4841	T	C	18: 60,270,982 (GRCm38)	D13G	probably benign	Het
Gm6205	T	G	5: 94,682,776 (GRCm38)	N44K	probably benign	Het
Gtpbp2	T	A	17: 46,166,442 (GRCm38)	F411Y	possibly damaging	Het
Kmt5b	G	T	19: 3,814,795 (GRCm38)	V620L	probably benign	Het
Lrrc24	T	C	15: 76,716,000 (GRCm38)	Q313R	probably benign	Het
Lsm1	A	G	8: 25,802,019 (GRCm38)	E108G	probably benign	Het
Macf1	T	C	4: 123,432,108 (GRCm38)	K5201E	possibly damaging	Het
Mki67	G	T	7: 135,696,516 (GRCm38)	T2263K	probably damaging	Het
Mroh1	G	A	15: 76,446,556 (GRCm38)	G1156S	probably benign	Het
Ncor1	A	T	11: 62,383,244 (GRCm38)	M190K	probably damaging	Het
Nsmce3	A	G	7: 64,872,719 (GRCm38)	V67A	probably damaging	Het
Olfm3	G	T	3: 115,122,557 (GRCm38)	L379F	probably damaging	Het
Olfr1274-ps	T	C	2: 90,400,933 (GRCm38)	S91P	probably benign	Het
Olfr935	T	A	9: 38,994,593 (GRCm38)	I281F	probably benign	Het
Pcdhb13	A	G	18: 37,444,800 (GRCm38)	T744A	probably damaging	Het
Plek	T	C	11: 16,983,220 (GRCm38)	T298A	probably benign	Het
Pou5f2	A	G	13: 78,025,273 (GRCm38)	I111M	probably benign	Het
Pou6f2	C	T	13: 18,125,406 (GRCm38)	R556H	probably damaging	Het
Rcor1	G	A	12: 111,093,095 (GRCm38)	A148T		Het
Rnh1	A	G	7: 141,168,631 (GRCm38)	V11A	probably benign	Het
Rrnad1	C	T	3: 87,927,749 (GRCm38)	V31I	possibly damaging	Het
Slc35f1	T	C	10: 53,108,148 (GRCm38)	F335L	possibly damaging	Het
Srrm2	T	C	17: 23,808,356 (GRCm38)	V22A	unknown	Het
St7	A	T	6: 17,934,221 (GRCm38)	H534L	probably damaging	Het
Swi5	T	A	2: 32,280,451 (GRCm38)		probably benign	Het
Syf2	T	A	4: 134,931,275 (GRCm38)	H40Q	probably benign	Het
Tgtp2	G	A	11: 49,058,894 (GRCm38)	L284F	probably benign	Het
Tnn	C	T	1: 160,118,483 (GRCm38)	G922R	probably damaging	Het
Trbc1	A	C	6: 41,539,112 (GRCm38)		probably benign	Het
Trim33	A	T	3: 103,353,829 (GRCm38)	T1115S	probably benign	Het
Ttc22	C	A	4: 106,638,918 (GRCm38)		probably null	Het
Ttn	C	T	2: 76,808,030 (GRCm38)	A13969T	probably damaging	Het
Tuba4a	T	C	1: 75,217,301 (GRCm38)	D74G	probably benign	Het
Ube3c	T	A	5: 29,590,884 (GRCm38)	D90E	probably benign	Het
Ubr7	T	C	12: 102,758,138 (GRCm38)	V37A	probably damaging	Het
Vmn2r28	A	C	7: 5,484,060 (GRCm38)	C535G	probably damaging	Het
Wdr36	A	G	18: 32,859,293 (GRCm38)	T628A	possibly damaging	Het
Whrn	C	T	4: 63,494,810 (GRCm38)	V142M	probably damaging	Het
Wnk2	A	T	13: 49,050,482 (GRCm38)		probably null	Het
Xkr7	C	T	2: 153,054,963 (GRCm38)	T579I	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
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
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'- GGTCATCAGTACACTCCCAAG -3'
(R):5'- CAGTCTCACCCTGATGTTGGTG -3'

Sequencing Primer
(F):5'- AAGTGCTTCTCCTTTAGACCTGAC -3'
(R):5'- TTTACCTCTGGGAAAGCAGC -3'

Posted On

2020-09-02