Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Nfatc4'

39469

Institutional Source

Beutler Lab

Gene Symbol

Nfatc4

Ensembl Gene

ENSMUSG00000023411

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4

Synonyms

3110041H08Rik

MMRRC Submission

038648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0448 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

56062252-56071400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 56069111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 625 (D625E)

Ref Sequence

ENSEMBL: ENSMUSP00000132763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357]

AlphaFold

Q8K120

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024179
AA Change: D625E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: D625E

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD_DNA_bind	419	578	3.5e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172271
AA Change: D625E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: D625E

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD	419	578	3.4e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC
low complexity region	878	889	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226293

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226357
AA Change: D555E

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226834

Predicted Effect

unknown
Transcript: ENSMUST00000228308
AA Change: D98E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227746

Meta Mutation Damage Score

0.1231

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a 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 stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Adam9	A	G	8: 25,454,926 (GRCm39)	S732P	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,433,965 (GRCm39)	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Or4k45	T	A	2: 111,395,559 (GRCm39)	I77F	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rcbtb2	T	C	14: 73,415,869 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,536,405 (GRCm39)	N134S	probably benign	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,024,811 (GRCm39)	F462S	probably damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	probably benign	Het

Other mutations in Nfatc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Nfatc4	APN	14	56,070,019 (GRCm39)	missense	probably damaging	1.00
IGL01295:Nfatc4	APN	14	56,069,962 (GRCm39)	missense	probably benign	0.03
IGL01791:Nfatc4	APN	14	56,069,695 (GRCm39)	missense	probably null	0.04
IGL02536:Nfatc4	APN	14	56,067,367 (GRCm39)	missense	probably damaging	1.00
R0571:Nfatc4	UTSW	14	56,067,485 (GRCm39)	missense	probably damaging	0.96
R0743:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0884:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0965:Nfatc4	UTSW	14	56,064,043 (GRCm39)	missense	probably damaging	1.00
R1141:Nfatc4	UTSW	14	56,070,088 (GRCm39)	missense	probably damaging	1.00
R2309:Nfatc4	UTSW	14	56,064,461 (GRCm39)	missense	probably damaging	1.00
R2680:Nfatc4	UTSW	14	56,070,291 (GRCm39)	unclassified	probably benign
R4200:Nfatc4	UTSW	14	56,069,489 (GRCm39)	missense	probably damaging	1.00
R4905:Nfatc4	UTSW	14	56,068,039 (GRCm39)	missense	probably benign	0.16
R5067:Nfatc4	UTSW	14	56,069,875 (GRCm39)	missense	probably damaging	0.98
R5202:Nfatc4	UTSW	14	56,064,116 (GRCm39)	missense	probably damaging	1.00
R5415:Nfatc4	UTSW	14	56,070,091 (GRCm39)	missense	probably benign
R5585:Nfatc4	UTSW	14	56,064,212 (GRCm39)	missense	probably damaging	0.98
R5599:Nfatc4	UTSW	14	56,069,733 (GRCm39)	missense	probably benign	0.02
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6172:Nfatc4	UTSW	14	56,066,990 (GRCm39)	missense	possibly damaging	0.83
R7292:Nfatc4	UTSW	14	56,062,512 (GRCm39)	missense	probably damaging	1.00
R7473:Nfatc4	UTSW	14	56,069,421 (GRCm39)	missense	probably benign	0.19
R7738:Nfatc4	UTSW	14	56,069,414 (GRCm39)	missense	possibly damaging	0.83
R8309:Nfatc4	UTSW	14	56,063,848 (GRCm39)	missense	probably damaging	0.99
R8445:Nfatc4	UTSW	14	56,063,875 (GRCm39)	missense	possibly damaging	0.85
R8853:Nfatc4	UTSW	14	56,063,690 (GRCm39)	missense	probably damaging	0.98
R9177:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9268:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9553:Nfatc4	UTSW	14	56,070,259 (GRCm39)	missense	probably damaging	1.00
R9667:Nfatc4	UTSW	14	56,066,964 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AAGTCCCAGGCGTTTCCTTTGC -3'
(R):5'- AGGAGTTAAGCCCGTTGCGTTGAG -3'

Sequencing Primer
(F):5'- CAGGCGTTTCCTTTGCTTTAG -3'
(R):5'- GATCTCCCTACTGGAGCAACTAAG -3'

Posted On

2013-05-23