Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Nfatc3'

379117

Institutional Source

Beutler Lab

Gene Symbol

Nfatc3

Ensembl Gene

ENSMUSG00000031902

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3

Synonyms

NFATx, D8Ertd281e, NFAT4

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106785472-106857169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106806359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 401 (H401Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000211991] [ENSMUST00000212742]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109308
AA Change: H409Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: H409Q

Domain	Start	End	E-Value	Type
low complexity region	153	182	N/A	INTRINSIC
low complexity region	205	225	N/A	INTRINSIC
low complexity region	257	271	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
Pfam:RHD_DNA_bind	434	593	4.9e-25	PFAM
IPT	600	699	1.19e-20	SMART
low complexity region	713	722	N/A	INTRINSIC
low complexity region	917	938	N/A	INTRINSIC
low complexity region	954	967	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211991
AA Change: H401Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212577

Predicted Effect

probably damaging
Transcript: ENSMUST00000212742
AA Change: H401Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212936

Meta Mutation Damage Score

0.1481

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some embryonic lethality and reduced body size. Developmental defects also exist in the immune system , skeletal muscle, vasculature, heart, and sensory nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,422,350 (GRCm39)	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 59,887,957 (GRCm39)	E161G	probably benign	Het
Abcc5	A	G	16: 20,195,296 (GRCm39)	S734P	possibly damaging	Het
Actn1	T	G	12: 80,228,188 (GRCm39)	H394P	probably damaging	Het
Adam8	A	T	7: 139,569,286 (GRCm39)	D144E	probably benign	Het
Ankrd50	A	T	3: 38,510,824 (GRCm39)	N514K	probably damaging	Het
Ankrd50	T	A	3: 38,509,122 (GRCm39)	K1082*	probably null	Het
Atp4a	A	G	7: 30,418,517 (GRCm39)	I602V	possibly damaging	Het
Baz2a	A	G	10: 127,946,677 (GRCm39)	T64A	probably damaging	Het
Btbd19	A	G	4: 116,977,764 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,028,998 (GRCm39)	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,284,007 (GRCm39)	D103E	probably benign	Het
Cd209d	T	C	8: 3,927,948 (GRCm39)	N52S	probably benign	Het
Cdh20	T	A	1: 110,066,053 (GRCm39)	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,299,140 (GRCm39)	V101A	probably damaging	Het
Cldn22	T	C	8: 48,277,742 (GRCm39)	V60A	probably benign	Het
Clec10a	G	A	11: 70,060,797 (GRCm39)	G183D	probably benign	Het
Cnga3	T	C	1: 37,281,023 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,714,634 (GRCm39)	F224I	probably benign	Het
Dync2i2	A	G	2: 29,922,472 (GRCm39)		probably null	Het
Fbxo40	A	G	16: 36,790,064 (GRCm39)	Y349H	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gm10029	A	T	13: 6,712,592 (GRCm39)		noncoding transcript	Het
Gm14399	T	A	2: 174,973,182 (GRCm39)		probably benign	Het
Gm9932	T	C	5: 100,347,014 (GRCm39)		noncoding transcript	Het
Immp1l	A	G	2: 105,767,462 (GRCm39)	Y107C	probably damaging	Het
Ism1	G	T	2: 139,520,672 (GRCm39)	G28V	probably benign	Het
Klf1	C	A	8: 85,629,814 (GRCm39)	S213*	probably null	Het
Krt12	T	C	11: 99,309,188 (GRCm39)	E329G	probably damaging	Het
Lama2	A	T	10: 27,040,942 (GRCm39)	N1460K	probably benign	Het
Llgl2	T	A	11: 115,744,800 (GRCm39)	Y932*	probably null	Het
Lrrc7	T	C	3: 157,866,877 (GRCm39)	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,312,899 (GRCm39)	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,329,275 (GRCm39)	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,811,677 (GRCm39)		noncoding transcript	Het
Mical3	T	A	6: 120,984,259 (GRCm39)	M206L	probably benign	Het
Mndal	T	G	1: 173,690,256 (GRCm39)	N358T	probably damaging	Het
Nckap5	A	G	1: 125,953,889 (GRCm39)	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,573,554 (GRCm39)		probably benign	Het
Npas2	T	C	1: 39,401,066 (GRCm39)	V810A	unknown	Het
Nt5c2	A	G	19: 46,884,978 (GRCm39)	V245A	possibly damaging	Het
Or1j4	A	T	2: 36,740,270 (GRCm39)	I71F	probably benign	Het
Or4d5	A	T	9: 40,011,955 (GRCm39)	M277K	probably benign	Het
Or51ah3	A	G	7: 103,210,241 (GRCm39)	M186V	possibly damaging	Het
Or52h9	A	G	7: 104,202,518 (GRCm39)	R131G	probably damaging	Het
Or5b109	A	G	19: 13,212,157 (GRCm39)	D181G	probably damaging	Het
Otof	A	T	5: 30,536,005 (GRCm39)		probably null	Het
Pck1	C	T	2: 172,998,816 (GRCm39)	T358I	probably damaging	Het
Pclo	T	C	5: 14,730,065 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pgr	G	A	9: 8,947,044 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,367,475 (GRCm39)	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,142,581 (GRCm39)	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,279,450 (GRCm39)	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,390,703 (GRCm39)		probably null	Het
Rgs22	T	A	15: 36,087,570 (GRCm39)	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,732,051 (GRCm39)	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,503,505 (GRCm39)	L393P	probably damaging	Het
Snw1	T	C	12: 87,506,259 (GRCm39)	I214V	probably benign	Het
Sorbs1	G	A	19: 40,328,491 (GRCm39)	Q595*	probably null	Het
Spata21	T	A	4: 140,824,432 (GRCm39)		probably null	Het
Ss18l1	G	T	2: 179,705,192 (GRCm39)		probably null	Het
Tmem163	A	T	1: 127,447,107 (GRCm39)	L176H	probably damaging	Het
Tpd52	T	C	3: 9,009,668 (GRCm39)		probably null	Het
Tpsab1	T	A	17: 25,562,436 (GRCm39)	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,728,538 (GRCm39)	T450A	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Txndc11	A	T	16: 10,906,398 (GRCm39)	H377Q	probably benign	Het
Usp17la	A	G	7: 104,510,355 (GRCm39)	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,770,348 (GRCm39)	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Wdr33	T	C	18: 32,040,046 (GRCm39)	*1331Q	probably null	Het
Wdr90	T	A	17: 26,079,624 (GRCm39)		probably benign	Het
Xpo7	T	C	14: 70,908,069 (GRCm39)	M903V	probably benign	Het
Zfhx3	T	A	8: 109,519,986 (GRCm39)	S369R	probably damaging	Het
Zfp808	T	C	13: 62,319,287 (GRCm39)	F172S	possibly damaging	Het
Zfp821	A	G	8: 110,450,625 (GRCm39)	E55G	probably benign	Het
Zfp964	T	C	8: 70,115,972 (GRCm39)	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,621,646 (GRCm39)	T250A	probably damaging	Het

Other mutations in Nfatc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Nfatc3	APN	8	106,825,809 (GRCm39)	missense	probably damaging	1.00
IGL01755:Nfatc3	APN	8	106,854,553 (GRCm39)	missense	probably benign	0.42
IGL02314:Nfatc3	APN	8	106,805,532 (GRCm39)	missense	probably benign	0.21
IGL02724:Nfatc3	APN	8	106,834,817 (GRCm39)	missense	probably benign	0.29
Kampf	UTSW	8	106,825,782 (GRCm39)	missense	probably benign	0.23
Struggles	UTSW	8	106,810,502 (GRCm39)	nonsense	probably null
PIT1430001:Nfatc3	UTSW	8	106,786,605 (GRCm39)	missense	possibly damaging	0.78
PIT4515001:Nfatc3	UTSW	8	106,805,835 (GRCm39)	missense	possibly damaging	0.94
R0088:Nfatc3	UTSW	8	106,854,574 (GRCm39)	missense	possibly damaging	0.90
R0348:Nfatc3	UTSW	8	106,818,827 (GRCm39)	missense	probably damaging	1.00
R0410:Nfatc3	UTSW	8	106,822,828 (GRCm39)	missense	probably damaging	1.00
R1509:Nfatc3	UTSW	8	106,810,486 (GRCm39)	missense	possibly damaging	0.46
R1702:Nfatc3	UTSW	8	106,818,792 (GRCm39)	missense	probably damaging	1.00
R1735:Nfatc3	UTSW	8	106,810,466 (GRCm39)	missense	probably damaging	1.00
R1736:Nfatc3	UTSW	8	106,805,482 (GRCm39)	missense	probably damaging	1.00
R1758:Nfatc3	UTSW	8	106,825,768 (GRCm39)	missense	probably damaging	1.00
R2370:Nfatc3	UTSW	8	106,835,087 (GRCm39)	missense	probably damaging	1.00
R2878:Nfatc3	UTSW	8	106,818,776 (GRCm39)	missense	probably damaging	1.00
R3802:Nfatc3	UTSW	8	106,806,277 (GRCm39)	missense	probably damaging	0.99
R3959:Nfatc3	UTSW	8	106,825,709 (GRCm39)	nonsense	probably null
R4006:Nfatc3	UTSW	8	106,835,471 (GRCm39)	missense	probably benign	0.00
R4079:Nfatc3	UTSW	8	106,806,123 (GRCm39)	missense	probably damaging	0.98
R4589:Nfatc3	UTSW	8	106,805,705 (GRCm39)	missense	probably damaging	1.00
R4818:Nfatc3	UTSW	8	106,835,011 (GRCm39)	missense	probably benign	0.00
R5042:Nfatc3	UTSW	8	106,834,757 (GRCm39)	missense	probably benign	0.25
R5632:Nfatc3	UTSW	8	106,805,689 (GRCm39)	missense	probably damaging	1.00
R5741:Nfatc3	UTSW	8	106,805,698 (GRCm39)	missense	probably damaging	1.00
R5885:Nfatc3	UTSW	8	106,822,944 (GRCm39)	missense	probably benign	0.00
R6439:Nfatc3	UTSW	8	106,810,502 (GRCm39)	nonsense	probably null
R6557:Nfatc3	UTSW	8	106,845,986 (GRCm39)	missense	probably benign	0.01
R6737:Nfatc3	UTSW	8	106,810,601 (GRCm39)	missense	probably damaging	1.00
R6925:Nfatc3	UTSW	8	106,845,954 (GRCm39)	missense	probably benign	0.00
R7260:Nfatc3	UTSW	8	106,835,578 (GRCm39)	missense	probably benign	0.00
R7429:Nfatc3	UTSW	8	106,835,035 (GRCm39)	missense	probably benign	0.00
R7430:Nfatc3	UTSW	8	106,835,035 (GRCm39)	missense	probably benign	0.00
R7526:Nfatc3	UTSW	8	106,805,715 (GRCm39)	missense	probably damaging	1.00
R7760:Nfatc3	UTSW	8	106,834,973 (GRCm39)	missense	possibly damaging	0.66
R8783:Nfatc3	UTSW	8	106,825,784 (GRCm39)	missense	possibly damaging	0.63
R8867:Nfatc3	UTSW	8	106,805,640 (GRCm39)	missense	probably damaging	1.00
R8978:Nfatc3	UTSW	8	106,835,402 (GRCm39)	missense	probably benign	0.03
R9021:Nfatc3	UTSW	8	106,818,745 (GRCm39)	missense	probably damaging	1.00
R9066:Nfatc3	UTSW	8	106,825,782 (GRCm39)	missense	probably benign	0.23
R9538:Nfatc3	UTSW	8	106,834,784 (GRCm39)	missense	probably benign	0.35
R9656:Nfatc3	UTSW	8	106,830,766 (GRCm39)	missense	probably damaging	1.00
X0063:Nfatc3	UTSW	8	106,810,571 (GRCm39)	missense	probably damaging	1.00
X0064:Nfatc3	UTSW	8	106,834,981 (GRCm39)	missense	probably benign	0.04
Z1177:Nfatc3	UTSW	8	106,818,698 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCATACTACCAGGAAAATTAG -3'
(R):5'- AATTGCTGAGCCATCTCTCCAG -3'

Sequencing Primer
(F):5'- CCAGGAAAATTAGAGATCTGTTCAG -3'
(R):5'- ATCTCTCCAGCCCCTATCTATTTAC -3'

Posted On

2016-04-15