Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Nuggc'

440390

Institutional Source

Beutler Lab

Gene Symbol

Nuggc

Ensembl Gene

ENSMUSG00000061356

Gene Name

nuclear GTPase, germinal center associated

Synonyms

Gm600, SLIP-GC, LOC239151

MMRRC Submission

043287-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65598546-65648531 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 65648188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 755 (K755*)

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: K771*

SMART Domains

Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: K771*

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: K755*

SMART Domains

Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: K755*

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933		probably benign	Het
Atp10d	A	G	5: 72,288,219	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385		probably benign	Het
Bms1	C	A	6: 118,388,825	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,438,306	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078	D644G	probably benign	Het
Lrrc6	A	T	15: 66,500,816		probably null	Het
Mdn1	C	T	4: 32,695,480	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr1501	C	T	19: 13,838,337	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192		probably null	Het
Ric3	G	A	7: 109,038,820	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829		probably null	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404		probably benign	Het
Stam	G	T	2: 14,117,427	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429	H605R	probably damaging	Het

Other mutations in Nuggc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Nuggc	APN	14	65623207	missense	probably damaging	1.00
IGL01403:Nuggc	APN	14	65623186	missense	probably benign	0.01
IGL01413:Nuggc	APN	14	65638581	missense	probably benign	0.23
IGL02588:Nuggc	APN	14	65617777	splice site	probably benign
R0102:Nuggc	UTSW	14	65613551	missense	probably null	1.00
R0102:Nuggc	UTSW	14	65613551	missense	probably null	1.00
R0395:Nuggc	UTSW	14	65613472	nonsense	probably null
R0827:Nuggc	UTSW	14	65608891	missense	probably damaging	1.00
R1496:Nuggc	UTSW	14	65624133	missense	probably damaging	0.96
R1861:Nuggc	UTSW	14	65642001	splice site	probably benign
R1986:Nuggc	UTSW	14	65641921	missense	probably damaging	0.98
R1995:Nuggc	UTSW	14	65611174	missense	probably benign	0.02
R2283:Nuggc	UTSW	14	65638612	missense	possibly damaging	0.89
R2317:Nuggc	UTSW	14	65624142	missense	possibly damaging	0.81
R3799:Nuggc	UTSW	14	65619638	missense	probably benign	0.00
R3980:Nuggc	UTSW	14	65619093	critical splice donor site	probably null
R4303:Nuggc	UTSW	14	65611172	missense	possibly damaging	0.77
R4431:Nuggc	UTSW	14	65611210	missense	probably benign	0.19
R4734:Nuggc	UTSW	14	65623230	missense	probably damaging	1.00
R5095:Nuggc	UTSW	14	65635090	nonsense	probably null
R5108:Nuggc	UTSW	14	65638680	missense	probably damaging	0.99
R5360:Nuggc	UTSW	14	65638626	missense	probably damaging	1.00
R5547:Nuggc	UTSW	14	65641881	missense	possibly damaging	0.87
R6494:Nuggc	UTSW	14	65648222	missense	probably damaging	1.00
R6922:Nuggc	UTSW	14	65617643	missense	probably damaging	1.00
R6971:Nuggc	UTSW	14	65608856	missense	probably benign	0.04
R7124:Nuggc	UTSW	14	65608802	missense	probably damaging	1.00
R7273:Nuggc	UTSW	14	65619608	missense	probably damaging	0.99
R7282:Nuggc	UTSW	14	65617623	missense	probably damaging	1.00
R7578:Nuggc	UTSW	14	65648174	missense	probably damaging	1.00
R7670:Nuggc	UTSW	14	65613526	missense	probably damaging	1.00
R7780:Nuggc	UTSW	14	65645041	missense	probably damaging	1.00
R7871:Nuggc	UTSW	14	65623251	missense	probably benign	0.01
R8250:Nuggc	UTSW	14	65641869	missense	probably benign	0.10
R8329:Nuggc	UTSW	14	65641282	missense	probably benign	0.01
R8334:Nuggc	UTSW	14	65645029	missense	probably benign	0.04
R8463:Nuggc	UTSW	14	65613562	missense	probably damaging	1.00
R8503:Nuggc	UTSW	14	65641348	critical splice donor site	probably null
R8737:Nuggc	UTSW	14	65645086	missense	probably benign	0.00
R8861:Nuggc	UTSW	14	65610035	critical splice donor site	probably null
R8914:Nuggc	UTSW	14	65641905	missense	probably benign
R9573:Nuggc	UTSW	14	65611154	missense	probably benign	0.37
RF019:Nuggc	UTSW	14	65648264	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTGATCTTCCCACATCACC -3'
(R):5'- CTGGTTATTTGGCTCCAGGC -3'

Sequencing Primer
(F):5'- CCCAAGCCATGCTGAGATG -3'
(R):5'- CAGGCCTATTTTCATCTCTTTAGAC -3'

Posted On

2016-11-08