Mutagenetix > Incidental Mutation

Incidental Mutation 'R8004:Nfatc2ip'

616516

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

046044-MU

Accession Numbers

Essential gene?

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

Stock #

R8004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125982026-125995909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125989577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 269 (V269A)

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

possibly damaging
Transcript: ENSMUST00000075671
AA Change: V269A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: V269A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 12,021,286 (GRCm39)		probably benign	Het
Abcb11	T	A	2: 69,087,554 (GRCm39)	K1070N	possibly damaging	Het
Ankrd24	T	A	10: 81,474,191 (GRCm39)	N179K	unknown	Het
Atp6v0a4	A	T	6: 38,027,484 (GRCm39)	F775L	possibly damaging	Het
Bbs2	A	G	8: 94,809,118 (GRCm39)	V269A	possibly damaging	Het
Bpifc	T	G	10: 85,815,148 (GRCm39)	S273R	probably benign	Het
Cdan1	C	T	2: 120,561,924 (GRCm39)	R20Q	unknown	Het
Cfap251	T	C	5: 123,392,513 (GRCm39)	W216R	unknown	Het
Chrm2	T	A	6: 36,500,221 (GRCm39)	I26N	probably damaging	Het
Cngb3	A	G	4: 19,505,273 (GRCm39)	K669E	possibly damaging	Het
Cnot1	T	C	8: 96,479,380 (GRCm39)	I876V	probably benign	Het
Col12a1	T	A	9: 79,591,683 (GRCm39)	T926S	probably damaging	Het
Cyp2b23	G	T	7: 26,378,891 (GRCm39)	T191K	probably benign	Het
Dipk1a	T	C	5: 108,057,532 (GRCm39)	D342G	probably damaging	Het
Dpp4	A	G	2: 62,189,172 (GRCm39)	V453A	probably benign	Het
Eif2ak4	T	C	2: 118,247,775 (GRCm39)	S271P	possibly damaging	Het
Fbxw20	G	T	9: 109,050,449 (GRCm39)	P392H	probably damaging	Het
Fcho2	T	A	13: 98,926,013 (GRCm39)	E118V	possibly damaging	Het
Gm2042	C	G	12: 87,926,921 (GRCm39)	Q413E	possibly damaging	Het
Gm904	G	A	13: 50,799,343 (GRCm39)		probably null	Het
H2-D1	A	G	17: 35,485,672 (GRCm39)	S352G	probably benign	Het
Igf2bp3	C	A	6: 49,067,954 (GRCm39)	V451L	probably benign	Het
Igkv1-99	T	C	6: 68,519,112 (GRCm39)	V23A		Het
Igsf10	A	G	3: 59,237,130 (GRCm39)	I1017T	probably benign	Het
Il18r1	G	A	1: 40,513,917 (GRCm39)	C41Y	probably damaging	Het
Itgb4	A	G	11: 115,873,531 (GRCm39)	D249G	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrn2	T	A	1: 132,865,489 (GRCm39)	F185I	probably damaging	Het
Mllt6	G	T	11: 97,566,966 (GRCm39)	E635D	possibly damaging	Het
Msh6	A	G	17: 88,294,215 (GRCm39)	E990G	probably damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Nfkb1	C	A	3: 135,297,312 (GRCm39)		probably benign	Het
Nol12	A	T	15: 78,824,717 (GRCm39)	K181N	probably damaging	Het
Npl	T	A	1: 153,379,286 (GRCm39)	T266S	probably benign	Het
Oog2	A	T	4: 143,920,821 (GRCm39)	I85L	probably benign	Het
Or5k3	T	A	16: 58,969,351 (GRCm39)	V46E	probably damaging	Het
Or7e171-ps1	A	T	9: 19,853,408 (GRCm39)	D109E	possibly damaging	Het
Parm1	A	C	5: 91,742,132 (GRCm39)	S167R	probably benign	Het
Pcsk4	T	C	10: 80,158,674 (GRCm39)	D526G	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Psmd9	T	C	5: 123,379,998 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,749,242 (GRCm39)	V1220A	probably damaging	Het
Rbm25	A	T	12: 83,721,166 (GRCm39)	E577D	possibly damaging	Het
Rbm44	T	A	1: 91,079,880 (GRCm39)		probably benign	Het
S100a6	T	C	3: 90,521,119 (GRCm39)	F16L	probably benign	Het
Sar1a	C	A	10: 61,520,945 (GRCm39)	H53Q	probably benign	Het
Setd2	G	A	9: 110,421,613 (GRCm39)	A282T		Het
Slc35f5	A	T	1: 125,517,624 (GRCm39)	H474L	probably damaging	Het
Slc4a3	T	C	1: 75,525,711 (GRCm39)		probably null	Het
Smc1b	G	A	15: 84,981,815 (GRCm39)	S735F	probably damaging	Het
Sp3	A	T	2: 72,800,552 (GRCm39)	I531K	possibly damaging	Het
St6galnac5	A	T	3: 152,545,802 (GRCm39)	M252K	probably damaging	Het
Tas2r120	T	A	6: 132,634,390 (GRCm39)	H157Q	possibly damaging	Het
Tbc1d10b	T	A	7: 126,798,183 (GRCm39)	S653C	probably damaging	Het
Tex10	T	C	4: 48,452,047 (GRCm39)	E693G	possibly damaging	Het
Thada	A	G	17: 84,499,633 (GRCm39)	S1855P	probably benign	Het
Tjp2	G	A	19: 24,091,484 (GRCm39)	P559L	probably damaging	Het
Tmem184b	A	G	15: 79,246,966 (GRCm39)	S368P	probably damaging	Het
Tnc	G	A	4: 63,902,894 (GRCm39)	S1461L	probably benign	Het
Tnpo2	T	C	8: 85,771,328 (GRCm39)	F177S	probably benign	Het
Vmn1r58	A	T	7: 5,413,506 (GRCm39)	Y241*	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
R8206:Nfatc2ip	UTSW	7	125,989,906 (GRCm39)	missense	probably damaging	1.00
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'- GATATGCCTAAGAAGCCTTGAAAG -3'
(R):5'- TGTCTTGTCCATACCCAGGGAAG -3'

Sequencing Primer
(F):5'- GCCTTGAAAGATGGGTAAATTTTGCC -3'
(R):5'- TTGTCCATACCCAGGGAAGTGAAC -3'

Posted On

2020-01-23