Mutagenetix > Incidental Mutation

Incidental Mutation 'R8206:Nfatc2ip'

635916

Institutional Source

Beutler Lab

Gene Symbol

Nfatc2ip

Ensembl Gene

ENSMUSG00000030722

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein

Synonyms

NIP45, D7Ertd304e

MMRRC Submission

067629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R8206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125982026-125995909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 125989906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 189 (D189E)

Ref Sequence

ENSEMBL: ENSMUSP00000075094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075671]

AlphaFold

O09130

PDB Structure

The crystal structure of SUMO-like domain 2 in Nip45 [X-RAY DIFFRACTION]
The crystal structure of the SLD2:Ubc9 complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075671
AA Change: D189E

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

SMART Domains

Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: D189E

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
low complexity region	43	58	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC
low complexity region	169	184	N/A	INTRINSIC
coiled coil region	199	227	N/A	INTRINSIC
UBQ	258	328	1.31e-8	SMART
low complexity region	329	338	N/A	INTRINSIC
Pfam:Rad60-SLD	341	411	3.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142947

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Homozygous null mice display profound defects in the expression of NFAT-regulated cytokine genes and defects in the efficient handling of parasites. [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
Ano4	A	G	10: 88,860,958 (GRCm39)	Y342H	probably damaging	Het
Aqp4	T	A	18: 15,526,716 (GRCm39)	D255V	possibly damaging	Het
Arhgap26	C	A	18: 39,439,803 (GRCm39)	S247*	probably null	Het
Arid4a	A	G	12: 71,133,361 (GRCm39)	D1154G	probably damaging	Het
Atpaf2	A	G	11: 60,295,304 (GRCm39)	I182T	probably damaging	Het
Cacna1i	C	A	15: 80,274,016 (GRCm39)		probably null	Het
Ccdc38	A	G	10: 93,399,146 (GRCm39)	S205G	probably damaging	Het
Cep63	A	G	9: 102,498,470 (GRCm39)		probably benign	Het
Cripto	G	A	9: 110,773,352 (GRCm39)		probably benign	Het
Cyp24a1	T	C	2: 170,333,589 (GRCm39)	T255A	possibly damaging	Het
Dlg5	A	G	14: 24,210,336 (GRCm39)	S787P	possibly damaging	Het
Dnah6	A	T	6: 73,014,549 (GRCm39)	C3679*	probably null	Het
Dpy19l3	T	C	7: 35,429,155 (GRCm39)	Y95C	probably damaging	Het
Erc2	G	A	14: 28,024,972 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,509,834 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,060,258 (GRCm39)	T463A	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,820,808 (GRCm39)	S5514P	possibly damaging	Het
Glrb	A	G	3: 80,758,373 (GRCm39)	Y347H	probably damaging	Het
Gm14325	C	A	2: 177,474,767 (GRCm39)	C105F	probably damaging	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Ighv1-76	T	C	12: 115,811,934 (GRCm39)	M1V	probably null	Het
Inppl1	A	G	7: 101,472,783 (GRCm39)	I1207T	possibly damaging	Het
Kmt2c	T	A	5: 25,519,537 (GRCm39)	Q2191L	probably damaging	Het
Krt79	T	A	15: 101,848,705 (GRCm39)		probably null	Het
Mast4	G	A	13: 102,872,247 (GRCm39)	L2374F	probably damaging	Het
Mgam	A	G	6: 40,657,169 (GRCm39)	N951S	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	A	T	13: 100,431,344 (GRCm39)	C1164*	probably null	Het
Nrp1	A	G	8: 129,184,438 (GRCm39)	D361G	probably damaging	Het
Nrp2	T	C	1: 62,786,374 (GRCm39)	I293T	probably damaging	Het
Pate5	A	T	9: 35,750,719 (GRCm39)	F34L	possibly damaging	Het
Pde3a	T	C	6: 141,433,611 (GRCm39)	V831A	probably damaging	Het
Pirb	A	G	7: 3,715,905 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,610,047 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,898,277 (GRCm39)	T973A	possibly damaging	Het
Ppp1r35	T	A	5: 137,778,296 (GRCm39)	I97K	unknown	Het
Ppp1r3c	C	T	19: 36,710,846 (GRCm39)	G308E	probably benign	Het
Prss12	G	A	3: 123,258,611 (GRCm39)		probably null	Het
Rad51b	A	G	12: 79,361,715 (GRCm39)	D142G	probably damaging	Het
Slc13a3	C	T	2: 165,248,745 (GRCm39)	G553D	probably damaging	Het
Spata31d1d	A	C	13: 59,879,344 (GRCm39)	V64G	probably benign	Het
Srp68	G	A	11: 116,164,809 (GRCm39)	R42C	probably damaging	Het
Syne2	T	C	12: 76,062,365 (GRCm39)	V4229A	probably benign	Het
Tas2r144	G	A	6: 42,192,325 (GRCm39)	V22M	probably damaging	Het
Tcf7l1	A	G	6: 72,604,395 (GRCm39)	L583P	probably damaging	Het
Tdrd3	A	G	14: 87,749,214 (GRCm39)	D708G	probably benign	Het
Tns4	A	T	11: 98,976,627 (GRCm39)	L98Q	probably damaging	Het
Zfp677	T	A	17: 21,612,717 (GRCm39)		probably null	Het

Other mutations in Nfatc2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02106:Nfatc2ip	APN	7	125,989,736 (GRCm39)	splice site	probably null
IGL03137:Nfatc2ip	APN	7	125,989,740 (GRCm39)	missense	possibly damaging	0.77
Weissgott	UTSW	7	125,995,182 (GRCm39)	missense	possibly damaging	0.80
R0136:Nfatc2ip	UTSW	7	125,990,507 (GRCm39)	missense	probably benign	0.11
R0521:Nfatc2ip	UTSW	7	125,995,751 (GRCm39)	missense	possibly damaging	0.93
R0657:Nfatc2ip	UTSW	7	125,990,507 (GRCm39)	missense	probably benign	0.11
R1610:Nfatc2ip	UTSW	7	125,986,579 (GRCm39)	missense	probably damaging	0.99
R1768:Nfatc2ip	UTSW	7	125,989,634 (GRCm39)	missense	probably benign	0.00
R1932:Nfatc2ip	UTSW	7	125,984,164 (GRCm39)	missense	probably damaging	1.00
R2116:Nfatc2ip	UTSW	7	125,984,280 (GRCm39)	missense	probably damaging	1.00
R2130:Nfatc2ip	UTSW	7	125,989,634 (GRCm39)	missense	probably benign	0.00
R2202:Nfatc2ip	UTSW	7	125,990,467 (GRCm39)	missense	probably benign	0.01
R2350:Nfatc2ip	UTSW	7	125,995,170 (GRCm39)	missense	probably benign	0.30
R4946:Nfatc2ip	UTSW	7	125,995,784 (GRCm39)	missense	possibly damaging	0.79
R5545:Nfatc2ip	UTSW	7	125,989,642 (GRCm39)	missense	possibly damaging	0.86
R6229:Nfatc2ip	UTSW	7	125,995,113 (GRCm39)	critical splice donor site	probably null
R6460:Nfatc2ip	UTSW	7	125,986,909 (GRCm39)	missense	probably damaging	1.00
R6741:Nfatc2ip	UTSW	7	125,995,182 (GRCm39)	missense	possibly damaging	0.80
R7355:Nfatc2ip	UTSW	7	125,986,783 (GRCm39)	critical splice donor site	probably null
R7912:Nfatc2ip	UTSW	7	125,989,617 (GRCm39)	nonsense	probably null
R8004:Nfatc2ip	UTSW	7	125,989,577 (GRCm39)	missense	possibly damaging	0.89
R8851:Nfatc2ip	UTSW	7	125,986,617 (GRCm39)	missense	probably damaging	1.00
R9799:Nfatc2ip	UTSW	7	125,989,739 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTCACTTCCCTGGGTATGGAC -3'
(R):5'- AGTGCCTGGTGTAATGTTGAAC -3'

Sequencing Primer
(F):5'- ACTTCCCTGGGTATGGACAAGAC -3'
(R):5'- GCCTGGTGTAATGTTGAACAATTGAC -3'

Posted On

2020-07-13